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350664 tn?1322829601
Bad Nuchal Translucency results...high risk.
Hi everyone. I just came back from my IPS testing to look for any chromasomal abnormalities like Down's syndrome, spina bifida, and trisomy 18. The baby's NT measured 4.1mm. Which is high and puts me at an increased risk for having a baby with down's, trisomy 18, or heart defect. So now I need to get more testing done...possibly amnio or cvs. Normal NT is less than 3mm. I'm soo worried, I can't stop crying and thinking the worst. Like what did I do wrong? I'm really scared about the results. I want nothing more than a healthy baby. Just can't believe this is happening to me. Anyone else have a high NT measurement and have a normal healthy baby. I'm worried b/c I'm still very young to be having such a high result. I also had blood drawn today to check for the proteins...don't know when I'll get the results....hopefully tomorrow. The wait is killing me.
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A lot of people get false positives or they're considered high risk for those abnormalities but go on to have healthy babies. Don't beat yourself up with grief and regret. Take this one step at a time and don't conjure up the worst-case-scenarios. Okay?! Everything just might be perfectly fine!
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350664 tn?1322829601
I know so I've been told that false postives are actually more common than you would think. I am just so worried. I want our little bean to be perfectly healthy. DH and I go to a genetic counselor today to talk things out. I've decided I will try to think positive till I get both blood tests back to compare with the NT in about 2-3 weeks and then see what the risk ratio is. I'm hoping it's over 1200 which would really ease my mind and make the decision about an amnio easier. I'm such a worrier by nature. DH is being so great and supportive of me but I know he is worried to.
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279473 tn?1222144363
My sister in law just had a positive NT screen about a month ago. She went on to have an amnio and EVERYTHING looks fine. The baby is as healthy as can be. Just like Joy said, MANY women get false positives with the NT scan. I wouldn't worry too much until there is actually something to worry about. I am sure you will be fine. Keep us posted.
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Hello, my last pregnancy I was also high risk for down syndrome. My doctor wanted to do an amnio, but I refused because of the risks, It really wouldn't have mattered to me anyways, because I was going to love him no matter what, but yes it is very scary. I knew in my heart that he was healthy, he just wanted to stir things up a bit. He was born beautiful and super healthy. Try not to worry too much because like everyone says, this happens ALOT, and more times than not everything is fine
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350664 tn?1322829601
Thanks girls your words are encouraging. I am hoping I'm one of those mommies to be that has a false postive. It's such a stressful process to go through, the waiting. I'm hoping for the best. I know I would terminate if it was Trisomy18, a heart defect I don't think I would unless it would be fatal and unable to be repaired and as for down's I would prob term. also. That one is still up in the air. Only time will tell I guess. Hopefully I don't have to make that decision and all is well with the baby.
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362119 tn?1223141536
My mother and aunt both got bad results from this as well...but just needed further testing. They BOTH ended up having healthy babies:-) My brother is now 7 and cousin is 2:-)
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I am 31 and got a bad nuchal translucency measurement, 3.0.  I went to a specialist and got a better reading, 2.5 but still not great.  My bloodwork looks great and is normal.  I refused a CVS for fear of a miscarriage but am considering an amnio.  I am a little nervous, does anyone have any thoughts or advise?  Am I overreacting to these numbers?  I have a perfectly healty little boy who is a year old and am just hoping for another healthy baby!
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350664 tn?1322829601
I think your overreacting to these numbers. My number 4.1 was considered high. They like to see it below 3.0mm, and my genetic counselor actually said 3.5mm was the real cutoff. So your right in the normal range if they remeasured it and got 2.5 then your considered to have a nomral nuchal on your baby and your bloodwork looks fine then I wouldn't worry and an amnio doesn't seem neccessary. What did they say your risk ratio is. So far mine is 1:560 but i've only had my bloodwork drawn once. The second part of my bloodwork is in a week and a half and then they will have a more accurate reading. I would go on what number they gave you. Mine is high for my age (25yrs) it should be over 1,000. So i'm terrified. I haven't decided if I'm going to have an amnio or not. My fetal eccho is not till end of april and my level 2 u/s. My 1st set of bloodwork however came back great so i'm holding out hope my numbers go up closer to 1,000 with the next draw. Good luck and I pray everything is ok with your little one.
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359142 tn?1321124523
Wanting to know if anyone has any updates.  I'm 34 and my NT came back at 2.8.  I'm scared to death.  I've heard stories both ways, good and bad.  How is everyone?
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363110 tn?1340924019
wannabamommy~ Just so you know, I didn't have a NT, as I was already having an amnio for my genetic skin condition.
My worst fear was a baby with D/S or Autism... guess what?

MY little man has Down Syndrome, and at first it scared the h*ll out of me. but after a little research.. I came to realize it isn't NEARLY the worst thing that can happen to me or him. These kids grow up to get married, live mostly or totally on they're own.. and are ALWAYS happy!

You hear of babies born with 1/2 a brain, or heart, or things like that who aren't gonna make it after birth. Guess what?
%90 of heart defects in D/S babies are MINOR and either heal by themselves or by minor heart surgery. (yea, heart surgery is anything but minor... but if you consider it compared to other kinds of surgery... it isn't the worst)

Turns out my baby also has my rare skin disorder which causes %25 of babies born with it to die. BUT, I always knew the %50/50 risk of it, and what comes with it and would do it all over again.

Already I love my little boy so much and he isn't even here yet. Just remember.. ALL OF YOU LADIES~ If you have your Amnio or other test come back Positive for Down Syndrome .. or any other genetic defect,

I am going thru it RIGHT NOW and have done TONS of research and I'm here for you to talk to! Just PM me or post on the forum!

Cindie
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Hi,
I'm 12 weeks pregnant and have just had two scans done, one trhough NHS and one privately. They both came back with extremely high risk of Trisomy defects. NHS nuchal translucency measurement was 5.5mm with 1;15 risk and the results from the private /and more advanced test/ were 6.1mm and 1:3 risk.
I'm worried senseless about this and have had CVS test done yesterday to find out 100% results. I'm a healthy 26 year old female with no previous family history of defects. My husband says i shouldn't worry and that our baby is fine but i just cannot relax and share his faith in this matter. The NT measurements are sky high and that surely must mean things are not as they should be. I have done tons of research and spoke to several people about this...What i've learnt is that sometimes it doesn't mean things are not right...Even such high measurements can mean that the baby is fine, which gives me great hope. During CVS procedure, my doctor said that the baby seems to be very active which also is a good sign...We've had 3 individual scans done and the baby was always on the move so i'm hopefull. I wish i have my husband's approach to this matter but i won't rest until i know that the baby is healthy...I need to know that it is OK and the waiting is driving me crazy. We need to wait until Tuesday next week to hear the cvs results...Please say a prayer for us and the little one if you can and i'll post the results on TUESDAY...

...LOTS OF LOVE...
'worried' Kate
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202436 tn?1326477933
Keep in mind that a lot of these tests have extremely high rates of false positives.  it's understandable to be worried but try not to stress too much until you have some more definitive testing done.  Also, talk to MartikaDragoon, as she said she has loads of information that could beneficial to you.  
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Had my NT scan and first blood work done at 12 wks 4 days...NT was 2.1 mm, which from what I have read is well within the normal range, but high compared to the average of 1.44 mm which is used as the norm for 12 wks 4 days...missed the second blood work at 15 weeks because was out of the country...received my partial IPS results this week and was told that my initial blood work and NT scan gives me a 1/320 risk for Downs...I am 35 and very nervous, have to go for an amnio next week and then wait endlessly until the results come back, I am 20 weeks along already...has anyone had 1/320 odds with a healthy outcome??

Also had my morphology u/s this week, everything looked fine, baby girl!!! was active and the report said no fetal abnormalities seen.

Would love to hear your stories!!
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I have a beautiful healthy 19 month old girl, with another on the way (due April 09).
I just had my 12 week nuchal scan done last Friday and the results have had me and my husband worrying since. It gave me the odds of having a baby with Down Syndrome as 1:230 (0.5% chance), when it should be 1:590 for my age (30). The nuchal thickness was 2.7mm. The blood test showed that the 'Free(beta)hCG (human chorionic gonadotrophin)' was higher than normal, and the 'PAPP-A (pregnancy-associated plasma protein- A)' was lower than normal, which apparently is characteristic of Down Syndrome.
I am totally freaked out and am trying to be positive and remember that there's a 99.5% chance that this baby will be healthy.
We're considering an amnio at the moment, but worried about the risks...
Would love to hear from anyone else out there going through something similar...
wannabamommy: How did your blood test results go?
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You can see by my post of Sept 26 (right above yours) that my odds were 1/320. I had my amnio on Sept 30 - it went very well. Before the amnio, the u/s technician conducted a very thorough u/s - looking at all the organs and taking all the measurements. When the ob came in to conduct the amnio he asked the tech if she had seen any markers of chromosal related problems in the u/s - she did not. (Some of the markers include calcium spots on the heart, too few veins in the umbilical cord, short femur measurement). With just that clear u/s the ob told me that my odds doubled in favour of all being okay. Then he did the amnio. I promise any mom out there that an amnio is not a horrible procedure at all. Of course you are nervous and tense, but it feels like a tiny ***** and that is all. I did have a slight cramping of the uterus which the ob could see on the ultrasound, he said it is normal, it sometimes happens and sometimes doesn't. He sent me home to relax for the remainder of the day - no lifting, no flying, no sex for about a week (even after that I plan on taking it easier than I have been). All this to say, any mom would get freaked out by the words positive screen, and if an amnio is the direction you choose please don't be afraid of it. I plan on writing in what the final results are in a couple of weeks when I get them (which is the really hard part - the waiting).

Take care
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Thank you for your response to my post :o)
We're still deciding whether or not to go for an amnio. We're not as worried now that we've kinda settled with the possibility of our child having DS.
Sounds like things are done a little differently where you are (US I assume?). I live in Australia, and we have the optional nuchal ultrasound at 12 weeks, bloods at around 10-12 weeks, another ultrasound at 20 weeks, and that's it (if I remember correctly) besides the 'unofficial' ultrasounds at the obstetrician's using his little machine when you see him every 4 weeks, til the last couple of months when it's every 2 weeks...
Good to hear that the u/s tech didn't see any markers! That's great news! I also heard that babies with DS usually don't have a nasal bone (ours did :o>).
All the best as you wait for your results to come back, please keep us posted - looking forward to hearing how it all went :o)
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350664 tn?1322829601
Just wanted to post to let everyone know about our final IPS results that I wrote about initally back in March. After the second round of blood tests and the level 2 u/s our results came back 1/17,000. I felt so relieved that everything seemed ok and that the odds dramatically increased from the first test. What a scare. Rest assured I had a beautiful healthy baby boy on September 15th. We're both doing great. Try to have hope when you get these scary results. Most of the time everything is ok. I'm so glad I didn't get the amnio done. I don't know what I would have done if I had miscarried this beautiful boy. Good luck to everyone going through this. I wish nothing but healthy beautiful babies. Also my husband and I will probably not do the IPS testing next time due to all the worry and false positives.
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I am so glad to hear that you've just had a healthy beautiful baby boy! COngratulations!! I've been wondering how everything worked out for you :o)
Thank you so much for remembering to come back here to encourage us with the wonderful ending to your story! I needed to hear that!
Congrats again!
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363110 tn?1340924019
an update to this, I had my baby boy, and he had a heart problem: a LARGE VSD and will have surgery at 2 1/2 mo old. (this month) he also does have downs and my skin problem. But I love him all the same. He is BEAUTIFUL!

I just wanted to tell you congrats!
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Hi... i just turned 36 and 19 weeks pregnant with my 2nd child. Last week i just got my IPS results and although everything came back neg, my OB has questioned that the Down's results have come back 1:375... even though it is above the cut off at 1:250.  I don't think i would have been concerned if i hadn't asked what my son was... he was 1:20,000!!  Both my 13 wk & 18 wk has come back with no "markers" or abnormalities... in fact very good... and there is no history in both our families of any genetic disorders.  I don't know the NT results but hope to find out tomorrow when I see my OB. Of course the prospect of an amnio has come up and i really don't know if i do or don't want to go ahead with it.  On one side i would like to know for definate if the baby is ok but on the other doesn't having a miscarriage outway the risk if the baby not being fine (1:375 compaired to 1:200).

Anyway it's great to here all your stories epecially ciaomommies, as yours is so similar.  I look forward to hearing you results... and good luck.
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I know!! My son was 1/21000....I was 32 at that time. I have no idea if two separate pregnancies can in any way be compared, I doubt it - but to have such a wonderful ratio with one baby, and then such an opposite ratio with another is frightening. When my ob gave me my results two weeks ago (positive screen), I was of course terribly worried - and she was not all that comforting when she was telling me either. She simply told me that my risk is the same as my age and she didn't really understand why I received a positive screen nor why I felt the need for an amnio. So I went home terrified and felt that way until I saw the genetic counsellor three days later, after which I still felt no better - here in Ottawa, the patient has to call and make arrangements for these procedures, you would think a health official would offer to do it. Anyway, I didn't actually feel any better until I saw the ob and u/s at my amnio - the amnio was one week ago tomorrow and all is fine. As soon as it was over I started to feel less worried for some reason, however I know that I will start feeling anxious again next week when the phone call will come with the results.

If the ratio cutoff is 1/250, why would we be given positive screens at 1/317 and 1/320 I wonder, what is the point of a cutoff?? Anyway, as I wrote last week the amnio was no problem and for us we just felt the need to know what is really going on with our little girl. Let me know what you guys decide on the amnio, and good luck, although I think science has taken out the need for much luck where amnios are concerned. I will definitely report what my results are when I receive them.
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Sorry, I mistyped your ratio as 1/317, I meant 1/375!!
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616452 tn?1253881244
i think the ratio has to do with different countries and what they seem to find as normal - here in Australia my ratio is 300 cut off but i was also told that some countries take it up to 350 - i think it makes everyone more confused.

All the best to both of you hope all worke's out well and will be thinking of you all
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My thoughts exactly... why have a cut of but still make us think that something is wrong... the nurse told me my was condisered negative!!!! It's the one of many questions i am going to ask my OB today.  They also mentioned about seeing a genetic counsellor, which i think we might do just to put my mind at rest, although i hope they're a little more helpful & reassuring than the one you seemed to have seen.  I can't believe they make you arrange the appointment... i'm in Toronto so not sure if it will be the same case - i'll find out today i suppose.  

I'm also wondering if anything else can affect the results... this time round i have been very sick, throwing up, not eating & just generally feeling ****.  It all stop around 16-17 weeks and i was taking Diclentin for morning sickness right up to that point.  With my son it was a breeze... no morning sickness, eating healthy & feeling good from day one.  Oh they also pointed out that i was low in iron... which is possible at the time as my diet was awful from the nausea.  Can something like that affect the results??

All my fingers are crossed that all is well and i'll let you know how things go today with my OB.  This is my first visit since the news as they phoned me to tell me!!
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well just to update you my OB, who is also a maternal fetal medicine specialist, told me that he feels nothing else needs be done. All my other results have turned out normal and good and he is satisfied that all is well... which is a relief, even if i am a little upset at the nurse calling and making me worry & upset this last week.  He also explained that the reason for the 1:200 cut of is because of the amnio ratio.  So if your result is negative (low risk - over 1:200, like mine 1:375) then the risk of having a MC is higher than the risk of the baby having Downs... which kinda makes sense and what i had already thought.
He also pointed out that my morning sickness etc would not have made any difference to the results... but i still wonder as it's based on different proteins, but then i'm not the expert!!!
I still wait with anticipation to see what ciaomommies results turn out... and hope there is a happy ending.
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Just heard from the genetic counsellor at CHEO. Looks like my amnio tested negative for spina bifida (one hurdle down), however she is still waiting on the chromosome results - she may receive them today but it could also take the full 3 weeks. It has now been 2.5 weeks since my amnio, at first the waiting was okay because I knew not to expect any calls, but since Tuesday, my heart races every time I hear the phone ring. I wish I could know the results today instead of having to go through the weekend, but you can't rush this test I suppose. Anyway, I will write back with my chromosome results when I find out.
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Got the second call from the genetic counsellor late this afternoon. Good news, all of the baby's chromosomes are just as they should be...and it is definitely a little girl who has been doing all that poking around. Well, we are very relieved here and thankful to have been another false positive case.

Hope all is well with you and all mommies out there, we are a tough group aren't we :)
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My comments are well after the original post.  I hope the story turned out well.  So, I'm posting my experience for others who are seeking information and support.  Our nuchal translucency was measured at 5mm (age 34).  We were told the news and were immediately asked to skip the blood tests (and results) and have a CVS done immediately.  We waited for 24 of the longest hours of our lives for the results -- and the test came back with no abnormalities.  I have heard about 4 instances where the nuchal translucency flags a pregnancy as high risk, only for the more thorough diagnostic test results to come back without abnormalities.  I understand the emotional toll that this screening took on us, and wouldn't wish it on anyone, ever.  I am a father that now understands how precious life really is -- this is our first child -- and to be completely honest, at the end of the day we wouldn't have ended the pregnancy regardless.  And I'm as liberal as they come.  Always have faith, as much as that is possible, and know that others are thinking about you even when you don't know it.
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847258 tn?1238763335
Thank you so much for sharing your story.  I am 43 and so far have had a healthy pregnancy, but our NT came back at almost 4.0 today.  I was so distraught (baby is due to multiple fertility treatments and IUI) that I let myself be talked into CVS on the spot, no thinking, no counseling.

Since this morning, I have been in the bed crying, certain that our blessing is doomed from that number.  Perhaps that is still true, but after reading your post, I think I can at least stand back up for a while.  I was already grieving, but the answer won't be back until tomorrow afternoon.

Thank you again.  Any more positive stories?
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I just got my CVS results back today and got good news.  On Friday I found out our NT was 4.0 mm, and I am a 30 year old with no history of genetic problems in the family except some mild cleft lip.  I was shocked and got the CVS.  It was a totally miserable weekend, waiting and trying to just lay low and not think too hard.

Today around noon found out that the "preliminary" results arethat everything is normal, and our gen counselor said that it is rare for anything to change with the "final results"

My question is this: apparently because of our high NT, we have a 10% chance of "major fetal abnormalities" and a 3.7% chance of heart defect.  Does anyone know what exactly major fetal abnormalities are?  The chart our gen counselor showed us indicated that even with these relatively high chances of problems, the rate of fetal death is 2.7%.  Any links to info appreciated.
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My husband and I went for our NT scan 2 days ago.  NT measurement was 4.3mm.  I have been on the computer ever since researching and finding any info that I can about NT scans, Down Syndrome, Amnio, and anything else that I think will help me make informed decisions.

I just wanted to say that the stories here of healthy babies after not so great NT scans is absolutely heartwarming and makes me feel so much more at ease.  We have to wait 1-3 weeks for our blood work to come back, so until then I have only these stories to help me keep my chin up!!

Congratulations to all the new mommies and daddies on this thread.
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Hi everyone,
I'm mummy to 2.5 year old Teaghan and 4 month old Lucas. I told myself that I must return her after Lucas' birth and leave a message :o)
When I was pregnant with him, he was given a 1 in 231 chance of having downs syndrome, which is considered high risk. We were shocked, both in our 30s with no family history of DS. His NT was 2.7mm at 12 weeks and blood work wasn't great either with the free beta hCG up and PAPP-A down, apparently characteristic of a down syndrome baby. Tho the risk wasn't very very high, it was high compared to his sister's 1 in 3000+ chance of having DS. We had regular scans after that but Lucas' NT stayed on the borderline high end. We decided against having an amnio, as we were going to keep and love this child regardless. We were a wreck and worried sick about him for months. It preyed on my mind day and night. Our prayer every night was that "Lucas won't have DS".
Lucas William was born March this year, 2 days after his daddy's birthday. He was 100% perfect and healthy :o) It was a special moment as we cuddled him minutes after his birth and said a quick prayer of thanksgiving to God.
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Hi, I am now 12 weeks pregnant.  At 10 weeks, I had an NT scan which measured at 3.8mm.  Needless to say, I was so shocked and upset to learn this...especially since I am a healthy 27 year old (husband is 29) with both having no previous family history of genetic disorders.

As soon as I reached home (and finished crying), I did my research online.  What i was surprised to learn was that my doctor didn't even advise us to do a blood test (triple test) first.  Instead, he straight away recommended a cvs or amnio.  On top of that, he barely explained to us anything! In fact, the impression I got was that my baby is definitely downs, and that the amnio is just to double confirm.  Which was very upsetting.

So, my husband and i decided that we will change gynae's and get a second opinion else where.

Yesterday, I went to see a new gyane.  He called in his Scan specialist, who measured the NT again.  He also drew some blood to do a Triple test.  This time round, my NT measured between 2.4-2.7mm (which is much less than 3.8mm).  

I am not sure if this reduced (after all this is all in God's hands to form and to change), or the previous scan was not done properly.

I will hopefully get my Triple test results (which will calculate the risk of Downs based on blood test, NT and age) in 1-2 weeks.

All i can say is, after reading these posts...i do feel much better (and even cried a bit...must be the hormones..:p) knowing that with bad NT scans, there are still chances of healthy babies being born.

Whatever it is, I will always love this baby whether he is Downs or not.  I can't help it.  Not after hearing his heartbeat.  
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Thanks for posting your stories on here, i dont feel so alone reading your comments. I had a NT at 11 weeks of 4mm, i have decided against invasive treatments for risk of miscarriage. My husband and i are very upset about it and he wants me to have the amnio, we are against eachother on this and its putting a strain on our relationship. I am trying to be positive and pray that the baby will be healthy, i have a my next scan at 16 weeks on 25th Nov to see if the fluid has resolved and anonomoly scan at 20 weeks. I willl let nature take its course, but this has got to be the most worrying time of my life. 1% risk of miscarriage after an amnio seems a very low risk and i wish i could go through with it but its still a risk which i'm afraid to take.
I wish everyone well and i will keep you updated.
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To  everyone..........i never got any of those tests done??? did someone force you or..... did your doctor convince you ???? but then again, im PRO-life............ I actually didnt even know about all this.......... all these crazy numbers................ and keep in mind noBODY is perfect. Leave your little baby alone while his heart is beating anyway.......... ppl talk about babies like they are an object........... Its a human being( in case some of you dont think it is..)    when i found out my test was positive.............. all i had in my thoughts was im pregnant!!!!!!!!!!!!!!!!!! not some amneio test/high risk............ do this............ leave it up to God. every little person on this planet was planned by HIM.
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363110 tn?1340924019
Disney~ My prayers are with you that you have a happy, and healthy baby. You and your husband shouldn't be fighting about getting an amnio or not. it's YOUR body, and both of your baby. You should be supporting eachother during this trying time. Maybe go talk to someone who can counsell you two on how to handle this and draw closer rather than have it push you apart?  

Julian~ people aren't forced to do these tests. The NT and the triple scan are routine tests done by most OB's. Few actually ask if a woman wants it and just does it during their other normal testing.  My OB didn't and asked if I wanted the tests done or not. (with this 2nd baby) with my first however that doctor knew I was having an amnio and I don't think they screened my blood first since we were getting a definite. I had my amnio for other reasons, no one pushed me to do it and it was a choice I had made from the time I  found out I was pregnant (actually years before)

The Amnio and other invasive tests (even a level 2 ultrasound) are completely optional.

It is each woman's choice on what she wants done. Many of these tests have no risk (the blood tests, the ultrasounds, etc) and the amnio has a minimal risk. I CHOSE to have one with both pregnancies. I am very glad that i chose to have the amnio done because with my first son it allowed me to prepare ahead of time for the challenges we'd face once he got here and for this second son I just got peace of mind early that he was ok.

I'm a christian and believe fully that it's gods plan for every baby to be here that's here. But I am also fully for testing if it's simply so the parents are able to know what they face.
~~~~~~~~~~~~~~~
UPDATE: POSITIVE DS AMNIO..... I posted about getting a positive amnio for down syndrome. My lil man was born Aug 14th, 2008 at 35w5d because of no amniotic fluid. I am so proud to have him. He was born with heart problems and had open heart surgery at 10w old, and did develop some complications of infection a few weeks later. 11/4 we celebrated his 1 year OHS anniversary and he is a completely different baby from back then. Our lil man says Dada, Signs Mama (I speak sign language). Sure he had health issues, but when he was 6mo old and out of the woods health wise (if barely) we decided to talk about TTC #2.... and went ahead. We are welcoming a 2nd healthy baby boy next month and are very happy about our decision. He doesn't have my skin disorder and it's going to be strange having a "normal" baby simply because all we know is our first son.

I have a journal on my profile for those facing a possible down syndrome diagnoses or a positive NT, triple scan, etc. feel free to click my screenname and then look at my journal.
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i'm 27 years old and had the routine nuchal screening 12 weeks into my pregnancy. the measurement was 4.3mm and the genetic counselor told us we had 1 out of 3 chance that something may be really wrong with the baby and we needed to consider our options for further testing and then start thinking if whether we would want to continue with the pregnancy.

i had the CVS test done (which was painful) and waited 2 days for the FISH results and another few days for the full results. they turned out normal. but we were also told to go in for a fetal echo done because the high nuchal may also mean heart defects. that also came back normal. then they told us we had to wait for our 18 week scan before we could relax.. we waited and that came back normal. then we had to wait for the AFP screening results and that also came back normal.. the stress during this time was unbelievable and i would never want to go through it again.. because of all these what ifs i still couldn't relax until my baby was born.

i gave birth to a perfect baby girl last month. so for those stressing about high results from this test, keep your faith and hope up. it's not always bad news. god bless your little ones.
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Its good to hear a lot of positive results on this forum. My wife just had her bloods and NT scan done at 12 weeks 3 days. The doctor didnt say anything about the results of the blood test but i knew straight away when they were doing the NT measurements something wasnt quite right. the measurements on our baby turned out to be between 3.3mm as a min and 3.7mm as a max.

We were given a 1:189 risk which was pretty devastating for us considering we a both young (im 21 and my wife is 23) and we have one healthy 3 year old already. We have decided we want to be sure and have booked in an amniocentesis.

Im just wondering how reliable of an indicator is that risk ratio? does anyone have any information or a better understanding of it? Im just hoping it really does mean we have a 1 in 189 chance of having a problem.
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350664 tn?1322829601
I just thought I would try to give you some peace of mind. That ratio is only completly accurate if it includes your 2 blood tests to complete the IPS screening or triple screen....by itself the measurement is not accurate. Mine was high just based on the NT measurements but combined with the 2 blood tests it jumped way above normal 1:560 to 1:17,000. Wait till you get your triple screen back before you jump into an amnio which carries a risk of miscarriage. My baby boy was born completly healthy. Good luck and remember most of the time there is nothing wrong.
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My wife was tested positive for DS about 3 weeks ago.  The percentile from the blood work were 95 and 5, and the NT measurement was 3.0.  We were given a horrific ratio of 1 in <5 by the genetic counselor.  We kept wondering...what are the odds of this happening to us..to our unborn child?  Life was absolutely miserable for the past few weeks.

We went through numerous DS related sites before landing on this one.  It was extremely helpful to know that others who have NT measurement greater than 3.0 to have healthy babies.

We decided to do the amnio last week and the procedure was not nearly as bad as we initially thought.  We finally got a call from our doctor today.  The fish result is negative.  The official result won't be available in a few weeks, but 90+ percent accuracy is good enough for us..for now.

Good luck!
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Don't forget that also during a normal ultrasound they can check for soft markers for DS, like no nasal bone, short femur, bone missing in the little finger, not too much fetal movement(well this one is in general) etc. I didn't get the blood testing and NT u/s cause of all these false positives plus the doc told me that with our age and genetic history (or lack thereof, no one in our family has had a genetic disorder as far as we know), we had more chance of being run over by a car after leaving the office than to get a baby with a genetic disorder lol so that put my mind at ease. Then a couple of weeks ago we went to get the 2nd trimester ultrasound done and didn't find any soft markers. Went again one week later (baby didnt want to show her sex so I asked for another one at another place) and again, no soft markers.
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im 22 years old and 12 weeks pregnant i had my nuchal scan this week and the results have come back im a 1 in 297 chance of trisomy 13/18. My hCG was 0.12 and PAPP was 0.41 which isvery low and the fluid on back of the neck was 2.7mm which is just above average . I have decided to go for a amnio tst on wednesday. I was wondering if anyone knows about the same situation as m e and my partner are frantically worried.  
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363110 tn?1340924019
1:297 is a LOW chance for a chromosomal issue. my chance for another baby w/Down Syndrome is 1:100 each time I get pregnant now.

Think of it this way, your chance is approximately 0.005%  (if my math is right, lol). Thats much better than %1 even. good luck with your amnio and try not to worry too much about the blood test results. Request a level 2 U/s becaues with Trisome 13/18 there are MANY markers (clenched fists, heart issues, etc for example), and that should be able to ease your mind some.
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thank-you for posting a reply back... i think its just such a shock when u hear that it could be you as you always think.... it wont be me!!
when they did the scan for the nuchal test the heart was fine and also everything else with the baby as far as they could see but as the baby is so small its hard to tell.
After lots of research i am feeling a little better as lots of women have to unfortunatly go through this not in a horrible way but in a way so you dont feel so alone.
Bless you .... you must be so brave to go through this again and again.. and how you manage to cope.
i pray every night that everything is ok. thank you for your support i will keep you posted as to how the test goes .
do you know of anyone that has miscarried due to an amnio?
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My baby's NT was measuring at 4.3mm, I was immediately referred to a genetics counsellor. I was asked to get an amnio done and although the risk is minimal they have come a long way and are very careful and I would recommend it anyone simply because if your child has a chromosomal abnormality you can better prepare yourself for their future if you choose to keep your child. My daughter didn't have downs or spina bifida but she had trisomy X or triple X. Had I not done the amnio I would have never known and couldn't get her the help she needed. I also was advised to get a level 2 full anatomy ultrasound which showed that my daughter had a very rare and fatal congenital heart defect. I chose to have children and and expand our family and I wanted this baby no matter what. She kicked me so hard and I knew she'd be a fighter. Now I was able to get her the surgeries and the services she needed to give her a good start from the day she was born. Some services have year long waiting lists but the sooner you enrol your kids the better their chances will be. We were able to get disability tax credits that are helpful for her medications or private services as well. Unfortunately, my daughter lost her battle when she was 10 months on Sept. 3rd, 2009 after 2 open heart surgeries and left me for her place in heaven among the other saints and angels. I do not regret my decision to have her and I will advocate for all heart babies, deaf babies and babies with chromosomal abnormalities b/c they are truly a joy and she is a huge part of my heart and always will be. I miss her deeply and we have been through alot in 10 months but I have nothing but fond memories of my little peanut. I know it's very hard and scary and most people may not be able to go through what we went through but God really only gives us what we can handle. I wish you all an abundance of strength, love, health and happiness! Happy New Year!
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hi just to keep you updated i ad the cvs done a week ago now ...and i won't lie it was a very strange feeling and did hurt..but its all for  a good reason! We have had the results back and thank fully our baby doesn't have downs or trisomys we were so relieved as we had been non stop worrying over xmas ..we are still awaiting to hear the other results for any other abnormalties so fingers stll crossed.
happy new yr ! and i hope this yr brings everyone good luck!!
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What an insensitive and judgmental post.  As you've hopefully read, there are many excellent reasons to have testing done.  In fact, I would say it's negligent NOT to do testing.  If you know that your baby may face health issues at a later date, it is best to prepare for the sake of your child.  Ignorance may be bliss for you but it can be deadly to your unborn baby.  Knowledge is power in this case and your child depends on you to arm yourself with information and resources before they enter the world.  With this information you can have the proper delivery team at the hospital if your baby if likely to have immediate special needs, you can choose a c-section if labor will be too hard on a baby with a severe heart defect, you can get your child signed up for services with long waiting lists, you can inform yourself and get proper support so you can be the best parent possible and give your child the best start in life.  When your baby is not going to be "normal" it is normal to grieve.  It's also normal for such issues to cause major rifts in your relationship with your significant other.  I'm a psychologist and see this on a regular basis.  I think it's far better to grieve early in the pregnancy and work through these issues and then move on so you can celebrate the birth of your child rather than receiving potentially shocking news in the delivery room and trying to sort it all out while trying to work things out with your mate and bond with a new baby who NEEDS you mentally and emotionally.  Additionally, julianovak, some people choose to terminate and this is their personal decision based on their life circumstances and what abnormalities are found during testing.  Neither you nor I can sit in judgment of another person's life and decisions.  We all do what we think is best for your children.  We love them.   Let's support each other as women and mothers.
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I had NT done yesterday at 12 wks + 4 and result was 2.8mm. My sonographer checked the baby and said that everything appeared normal and she had no concerns and liked what she saw, mentioning that it all seemed very textbook. I asked her if this was a high result and she said that this was the higher end of normal but they still consider an NT result of 3.4mm as high normal. I have got to have bloods taken tomorrow or Monday (in the UK we all seemed to be snowed in at the moment and not getting anywhere fast). So Im not too sure what my risk will come back as but I can only take the word of the person who completed my scan who didn't seem at all worried. Im 31, this is my second child (had my first at 25) and have been trying for 3 years to conceive. I have been very worried and anxious during this pregnancy about m/c and now about DS and Tirsomy's, but not really sure if I would even do diagnostic tests anyway. There are a lot of false positives with these tests and they are not 100% conclusive either. There are always going to be people with lower end results and higher end results thats what they are there for.
Ellie xx
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Hi, Iv just read your comment and i actually didn't see the one by julianovak. I totally agree with what you are saying and cannot believe i actually missed that...whateva people decide to do is down to them as it is only you that will have to deal with your decision no-one else.. people are so insensitive and have no idea what some women go through.
This is what these websites are for to help and support one another not to judge!
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Hi Ellie,
I was in the same boat as you a year ago... (see earlier posts)
I was 31 and pregnant with my 2nd child. At the 12 week scan the baby's NT was 2.7mm but everything else looked fine. Subsequent scans continued to show that everything was good though the NT was always at the high end. It had us worried sick but we didn't want an amnio due to the small risk of miscarriage. We were keeping the baby either way so it wasn't worth the risk for us. Our darling boy was born 100% healhty 9 months ago :o) I hope your story ends the same way! All the best for your blood test.
Jo
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Thank you for your post. I totally agree with what you said!
I had tests done because it was routine. I hadn't expected to get a high risk result but had no regrets about doing the tests. I wanted to prepare myself mentally and emotionally to face the possible future of looking after a child with DS. After finding out that the baby was in high risk, I did lots of research on the net and read blogs written by parents with DS kids. I was blessed to learn from these parents and their beautiful children. It took a lot of the fear away to have been able to prepare.
I am a Christian and wouldn't personally choose to terminate, but that is my choice and I cannot stand in judgement of others who don't share the same values as me.
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I just got back a result of 4.7mm (13weeks, 5days, age 22).
The doctor wasn't very reassuring...  They took a blood sample and said it will be back in 5 days.

What are your thoughts?  How worried should I be?  I just don't know what to do with myself for five days.
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I had my regular 10 1/2 week ultrasound yesterday. After the ultrasound my MD confirmed that I am young and that I am only 30 years old. At the time I was wondering why did he have to ask how old I am again. Then he said he wants to refer me to a high risk DR. to check for Down syndrome. I said okay because I thought it is a routine thing. When I got home I looked at m US pictures again and noticed the pad on the back of my baby's neck and started researching online. I guess he didnt want us to worry if he told us the truth behind the referral. I am worried but at peace at the same time on what We are blessed with. The stories here helped me with that. And those who are not very encouraging doesn't really understand how we feel because they are not faced with the same situation. I believe in God but I am still human. Im waiting now for the schedule for my testing for 12 weeks. We are hanging in there, you guys too. Much love to all the mothers and fathers.
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363110 tn?1340924019
Ladies another update. Well wishes to those of you worrying about a trisomy.. Ihad my 2nd lil man dec 9th and the difference between the two babies, tj my son with t21 and mason my "typical" son were extrordinary and I'm definitely glad tj was our first. Just remember knowledge is power. But don't freak out too much because, at least regarding t21 there are so many therapies and treatments available to help our kids advance so much that are low cost or free to most families to take advantage of. Feel free to message me if you want.  Anything worth having is also worth the                              work and dedication. These kids are miracles and gifts even if they aren't here long. Ttyl,   Cindie
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Hi im 20 Yrs old this is baby number 2
& my messaurements where 3.3mm & my chances are 1:497 & Im gettin my AMNIOCENTESIS on the 18th feb
what do you think the chances of me hav\ing a downs baby ??
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Well, with a 1:497 ratio, you still have a really small risk.  As a comparison, my measurement was only 2.9, but since I am 35 that measurement bumped me well into high-risk territory, and my ratio comes out to 1:43.  Coincidentally, my amnio is also scheduled for Feb 18, and I know this is going to be a long few weeks.  I'm a worrier by nature so to keep from going totally insane I'm trying to stay positive (or at least neutral) until I have more info.  Reading everyone's posts here is helping.  Best wishes to you and know you are not alone. :-)  -Omelas
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I wanted to thank everyone for their positive stories.  I spent all last night on the internet and crying my eyes out after getting a nuchal result of 3.0.  I am 11weeks 3days and 40 years old so I am really freaked out about the whole thing.  I'm still waiting on the bloodwork but the doctor seemed so alarmed by the results and wrote me a script for a cvs right away.  I'm not sure if I'm going to do it though.  I'm really afraid of taking the test and having a miscarriage.  Please keep the stories coming and I will check back in once I get my bloodwork.  
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need more info on results guys plz xxx
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hi all
Im 28 and have after 7 years trying and my first attempt at IVF become pregnant , after going through all the ups and downs of IVF our pregnancy is a overwhelming happiness ,  i have just had my NT done which came back a reading of 1.8 mm and i was told baby looks great !! everything where it should b and very active , as you could imagine i was thrilled , but a week later i have received a call from my DR asking me to come in to discuss my blood results , which concluded that i am a high risk 1 in 81 chance , i am booked in for a CVS test on monday and as you all could imagine im terrified that something maybe wrong with my lil "nudger " i am opting for the CVS because i am 14 weeks now and already feeling bubbas light kicks and am bonding with my baby more with every second , amnio can not b done for few more weeks and i just can not put my self through the stress of waiting ... i guess i was wondering if anyone here has had simpler results where NT is great and bloods say different and if so how things went ?
i will post when i know more,  fingers and toes crossed everything will be fine .
Also as you all understand most of my time has been spent crying and more crying but finding this sight has given me hope and i thank you all for that :)
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hi all
Im 28 and have after 7 years trying and my first attempt at IVF become pregnant , after going through all the ups and downs of IVF our pregnancy is a overwhelming happiness ,  i have just had my NT done which came back a reading of 1.8 mm and i was told baby looks great !! everything where it should b and very active , as you could imagine i was thrilled , but a week later i have received a call from my DR asking me to come in to discuss my blood results , which concluded that i am a high risk 1 in 81 chance , i am booked in for a CVS test on monday and as you all could imagine im terrified that something maybe wrong with my lil "nudger " i am opting for the CVS because i am 14 weeks now and already feeling bubbas light kicks and am bonding with my baby more with every second , amnio can not b done for few more weeks and i just can not put my self through the stress of waiting ... i guess i was wondering if anyone here has had simpler results where NT is great and bloods say different and if so how things went ?
i will post when i know more,  fingers and toes crossed everything will be fine .
Also as you all understand most of my time has been spent crying and more crying but finding this sight has given me hope and i thank you all for that :)
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I am 14 weeks and 5 days and I had NT screening test as well as bloodwork done at 12 weeks.  My NT scan came back fine - with the skin fold measurement of 2mm and evidence of a nasal bone.  My bloodwork cam back with a 1:47 chance of Down's Syndrome.  

I have a genetic counseling appointment set up for this Friday 2/19 and an amnio scheduled for 2/26.  I am trying to stay on the positive side here.... 1:47 translates to a 98% chance that all is well.  Plus the fact that my NT scan was okay... I am hoping all this means well but I must find out.  
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hi all , well i went in to have my CVS done yesterday , but couldnt have the test as my placenta was low lying and they didnt want to put any risk to baby , so now im booked in to have a amnio done this Monday coming , another WHOLE week of not knowing ....
but i got to hear my precious lil bubs heart beat ! and they checked the whole bub out and said everything looks great as far as baby is concerned everything is where it should b , so now the count down is on again , i spent this last week building up confidence and strength now i have another week of trying to do the same .....ill b recieving some results 48 hours after my amnio , so i will keep you posted ! and Katemom2010 my thoughts and prayers are with you to , i know exactly what your going through . good luck with your amnio also ....
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My NT scan came back way within range of being normal. Much to my dismay the blood work came back elevated, which put me in a 1 in 81 chance of having a DS baby. My husband and I have no one in either of our families with DS and never have to our knowledge, even in many generations past. I don't really know what I should do. Anyone else have results with the NT fine and the blood work positive? Comments?!
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I'm 41 and after 7 miscarriages ( we have a translocation problem)my husband and I naturally conceived - I'm so happy, except my 12 week NT came back at 2.3 which our Dr said is "high normal" is that true?  We did not elect to do blood work because the false positive rate goes sky high as you hit 40.  Last but not least everything looked great at our 16 week ultra sound EXCEPT baby had a EFI (white mark on the heart) this is highly debated whether it's a sign of increased risk of Down's or not. Our genetics counselor said our risk is still around 1% (ie average down's risk for a woman my age).  I know our Dr. is itching to do an amnio - but, I can stand the thought of risking a miscarriage for a child we'll keep no matter what - at the same time I'm worried sick.  So how bad is a 2.3 NT?  Anyone else have an EFI?  
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Hi there!  Just want to say thank you to all of you for your stories on here.  Kind of stumbled onto this site and am glad I did.  I went for my NT scan two days ago and mybloods done one day before(routine from my Dr).  This is my second pregnancy and I am 36.  I was having the scan done and all seemed fine, then when he started doing the NT part of the scan I just felt the whole energy change in the room.  I said something like"Is that the nuchal fold?" he said, "Yes".  He seemed to take more shots of this scan than in my previous pregancy which also made me think...Then when I went to leave he said he will fax my results to my Dr whish, again, did not happen in my previous pregnancy, this made me think WHY?  but they were extremely busy when I was there so I just dismissed it.  But there was just this feeling, I cannot explain it.  So much so that when I got home I started studying the scans.  Tne measurements were ranging from 2.58 - 2.78.  I did not have my first childs scan with me at the time to compare, asI could not remember what her number was, so when I got to my Mums house the next day I checked her scan and it was .9, then I started to worry.  My Mum said if you are worried, make an appt with your Dr early, today is Wednesday and my apptwas booked for Friday, but I could not wait.  He said they may or may not have my bloods back by then but I want to talk to someone!!!!  Checked the internet and saw all these posts.  Anyways, have my appt tomorrow morning and will let you know my journey, as all of yours have helped me immensely!
Thanks
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Hi again,
Went for my appt today and the Dr has told me not to worry.  My bloods came back fine and even tough the number is higher than my previous pregnancy he has said that for my age it is not uncommon to have gone up!!   I am in the low risk grouping for my age, the chances are 1:517.  Not great but not bad.  Will have my next scan at 19 weeks!!  And should be transferred off to the hospitals care very soon, so they again will check the situation!

Thanks, good luck to all
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I'm 34 and my partner is 39. We're both very healthy. All of my blood work passed with flying colors until the AFP results at 11 weeks.

Two days ago, at 12 weeks, the ultrasound showed that the fetus is filled with fluid almost the full length of its body. The NT measurement is 6mm which they say is a 90% chance of a dramatic problem. With the NT measurement, it's a 1 in 3 to 1 in 2 chance of Down syndrome alone, not to mention other issues. Or it could have a dramatic heart defect.

This has to be a nightmare.

The odds for this happening seem to be in the range of 1 in 400. How did we get these rotten odds? My best friend is pregnant and we were going to have babies two months apart and raise them like siblings.

I did the transvaginal CVS and am waiting for the FISH results today.

I thought the 6 weeks ultrasound showed an unusually large yolk sac, which I read is a potential sign of a chromosomal abnormality, but I tried to stay positive. All along this pregnancy has been very "easy," with barely any morning sickness. I considered myself lucky. I took prenatal vitamins religiously, exercised moderately and ate very well.

The genetic counselor said sometimes people keep the pregnancy and the results all clear up, but that's only like 1 in 10 cases. Is anyone here among these cases? I don't want to have false hope. Yes, I do.

I'm devastated and so is my partner. We were just gearing up to tell more people. Now I'm glad I haven't told my parents because I don't want to make them sad.

I'm terrified of ending this pregnancy at 13 weeks, which is the most likely outcome. The ultrasound even to the naked eye was abnormal even though the heart rate was normal. I saw the toes and the fetus was kicking and moving around. My heart goes out to it and I feel terrible. I can't eat or sleep. I've been on a couch for two days on doctor's orders.

If there's something terribly wrong with our child, why didn't it just miscarry naturally, sparing us the torment of potentially making a horribly painful decision?

Few people talk about results like these, even on anonymous forums. I think some are embarrassed in the first place not to be carrying a "perfect baby," and they're also ashamed to be among the 9 in 10 people who abort a child with a chromosomal defect.

Granted, I don't know the CVS results yet. But the doctors were pretty grim just from the ultrasound. The shape of the fetus even to my naked eye was obviously off. It looked like it had no neck. The neck was as wide as the head and body. The 6mm is even way too wide for 15 weeks to be in the range of "normal."

I wish people would be more sensitive, the pregnancy books included, and stop calling it a "baby" early in pregnancy. If the miscarriage rate is like 30% in the first trimester, please spare that high percentage of us from having false hope too early. Please call it by the proper name, an "embryo" or a "fetus" while it can't survive outside the womb. It makes the loss of a potential child feel about a millimeter softer.
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Just got the CVS results back and our little one has Edwards syndrome. Only 10 percent survive to be born, and among those born, only 10 percent live to one year.

This is supposed to affect only 1 to 2 percent of pregnancies and should not affect future pregnancies.

We are extremely sad and send our best wishes to the rest of you. I hope that you never have to go through this, but you will find the strength if you must.
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796506 tn?1370191905
Oh wow I don't think anyone noticed but this post is from 2008!
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hi everyone i havent been on in awhile lifes been pretty busy , i just wanted to touch base and pass on some positive news i ended up having my amnio on the 22nd of feb as i came back high risk for DS 1;81 chance and the full results have informed me i have a healthy little boy baby , i thought i would post this to give others like me hope , and wish each and everyone of you on this sight the strength and hope to get through whatever your facing.  
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I've just had a normal nt but bloods gave me a 1 in 94 risk. They have booked me in for an amnio in 21/2 weeks and I am devastated. We have already discussed if the worst came to the worst we don't feel we could continue with the pregnancy but don't know how i'd end it either. Don't know how to tell and face people and how to keep it together until I get the results in a months time. Has anyone else been in this position with such high odds?
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Hi,

I'm 31, and I went for the NT test yesterday at 12 weeks 5 days. We had a result of 2.8-3.2 mm, which the doctor said was high but she wanted to wait for all of the blood work results before she suggested an amnio. She said based on my age and the fact that we have no family history of chromosomal problems, she did not recommend a CVS.

They drew blood yesterday and I go back in two weeks for the quad screening. I then go back the following week for another ultrasound to see how things look developmentally.

It definitely wasn't what I expected to hear- I keep swinging between thinking it'll be ok, to being convinced there is some type of problem. I think I'd do an amnio if all of the blood work indicated a problem, but it's hard enough waiting for the next few weeks to pass, and I don't think I'd have it in me to terminate.

Hoping all works out well for you all. Please update on your stories, as well!
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Reading some of these posts have definitely lifted my spirits and I am more hopeful.
However I was wondering....I've read a lot of you who has had high nt's but resulted in a healthy baby but not much about absent nasal bones.
I am 30. My nt is at 4.7mm, my adjusted risk for ds is 1:2 and my baby does not have a nasal bone.
I also went for my CVS yesterday and waiting for my results in 4-5 days.
Has anyone have all of these problems and still go on to have a healthy baby?
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1102290 tn?1278503553
I know that when I was going for my targeted level 2 us after I recieved the blood work results of 1/78 for Trisomy 18 (edwards syndrome) that they considered the nasal bone or lacking of one as a soft marker.  Did the dr speak to you regarding the nasal bone?  
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363110 tn?1340924019
ANYONE WITH QUESTIONS  ON PRENATAL TESTING PROCEDURES, OR TRISOME'S ESPECIALLY TRISOME 21 (DOWN SYNDROME) FEEL FREE TO WRITE ME WITH ANY QUESTIONS YOU MIGHT HAVE.

IT DOESN'T MATTER IF IT'S EVEN QUESTIONS ON TERMINATION. I'M NOT GONNA JUDGE YOU AND I TRY TO PROVIDE THE BEST ANSWERS POSSIBLE.

IF YOU MISSED MY POSTS ON HERE I HAVE A 19 MONTH OLD WITH DOWN SYNDROME.

TTYL

CINDIE

P.S. JUST CLICK MY SCREEN NAME AND GO TO WRITE MESSAGE
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1102290 tn?1278503553
I was trying to find your name to reference for the above poster as you helped me so much when I was going through my testing!! Thank you
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363110 tn?1340924019
I messaged her :) I hope that they keep us updated.
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561393 tn?1320966415
i just wanted everyone to know my story i have post from about a year ago......my daughter came back with a bad nt reading......and the only problems i did have was that she was a premie and she was born with a third nipple...i contacted my genitic concellor and she then informed me that an enlarged nt could mean a third nipple but while i was pregnant they never informed me on that and i really wish they would of cuz then maybe i wouldn't of been so stressed (and my doc informed me good chance i had her early because of stress) so for every mother out there that is dealing with this i know its stress ful but try your hardest not to be stress. my daughter is healthly just very small for her age she is 6 1/2 months and weighs 11 lbs...but besides that everything is fine
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During our last pregnancy we had an NT and it came back with a very low risk factor.   However, our daughter was born and has a micro deletion on her 5th chromosome that is resulting in developmental delays and cognitive impairment.  It will be an extraordinary challenge for her to learn to walk, and if she does, a wonderful achievement.  We love her and we are very happy.  It was very hard for us during the first months of her life, but the wonder of life has wiped that away and we no longer agonize over lost potential and what could have been.  We simply have our beautiful daughter who we would not change for another with all chromosomes intact.  And when I tossed her in the air this morning before leaving for work and listened to her squeal of delight, I was a profoundly happy human being.

Do not worry.  Life works out in wonderful ways beyond our fears and imaginations.
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I am 35years old and 13w3d, I just got my NT result: 3.17mm this monday, and blood test actaully is belonged to normal which i heard from my genetic counselor but they combined with my NT result and make my ratio to 1/100 which is a cutoff number and i am either negative or positive....my GOD!

i decide to do the CVS this coming monday and make sure my baby is a healthy angel to me, GOD BLESS ME AND MY BABY.
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hi im 28 and 14 1/2 wks pregnant.i had my nuchal test and blood test with it done at 13 wks and my nuchal result was 2.70mm i got that wonderful phonecall telling me that im high rick for downs with my ratio being 1;140 im really nervous and have my appointment tomorrow to go through the results combined i have only had the nuchal test is the triple test worth having also this is my third baby and even though i have had a baby with edwards syndrome in the past i have never had to go through this any advice or things that are worth having done?  thanks x x x
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Hi iam 26 years i had my nt scan at 13 weeks pregency mesurement came back 2.8mm , nseacl bone is visible didnt one got this expreience please share with me
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I am 31 and just went for the 12 week NT screening test.  The result was a measurement of 2.8-3.0 and they said there is some fluid present.  I was sent yesterday for a CVS which I found to be painless (I was super anxious and beyond nervous at the thought of the procedure, so I was glad to have no pain and no after effects either).  I am so glad I found this site.  The stories on here have made me feel a bit better about things.  I was completely devastated to learn there may be a problem with the baby (I have a healthy 2 year old already).  The wait for the CVS results will be excrutiating.  I hate to say it, but I am not sure what I will do if the results come back indicating a chromosomal issue.  I have thought long and hard these last few days and I am not sure if I can handle a child with those sorts of problems.  Compared to some of the other results I have read here, a result of 2.8-3.0 does not seem so bad I guess considering others on here have had higher numbers and have had healthy children.  Am I wrong to be beyond worried and confused as to what to do??????
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1227139 tn?1462338230
If there is anyone with questions about any prenatal testing, please do not hesitate to ask me questions, especially with respect to Down syndrome.  Going through prenatal testing can be such a stressful time especially if you are told your baby has "markers" for a chromosomal abnormality.  I myself learned of our son's diagnosis of Down syndrome when I was 18 weeks pregnant via Amniocentesis.  I can help find answers to questions you have, or just to chat.  My door is always open, and additionally you may find some interesting information in the Down syndrome Forum or Group (I have posted many help reference files there in the "Down syndrome Group".)  In those forums you will find many people who have been through the same testing as you, and quite possibly the same results.  Many times it is hard to sift through all the information you are given and having someone to talk to about these complicated questions can help so much.
Hopefully I can find you the answers you may be looking for or point you in the right direction!  Keep in mind that not all minor testing means that you will have a baby that has a chromosomal abnormality.  Sometimes "soft markers" are just that and end up as nothing at all.
Besides being a mom with a son who has Down syndrome, I am a volunteer coordinator for a special needs group with the YMCA, a volunteer family guide for people receiving diagnosis of Down syndrome and also a Police Officer.  Hopefully I can help what ever your questions may be.
Good luck, and if you have any other questions that I can help you with, please feel free to message me directly.

Sincerely,
Sandi (Dragon1973)
MedHelp Down syndrome Community Leader
& Ds Group Forum Founder/Moderator
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Hello,

I was so pleased to find this thread. I am 27 years old currently 12 weeks with my third child. Today I was given the NT sonogram scan and the results where 4.06 with a nasal bone and my blood work seems "normal" yet they considered me HIGH RISK for DS or other chromosome disorder. They said because of the high number they disregard findings of a nasal bone. My risk after screening is 1:19. I sat down with the genetic counselor but everything she was telling me was going in one ear and out the other. All I can think of is WHY? WHY MY BABY? I already had a Colic baby which put me through Postpartum Depression and the thought of a special needs child will be even harder. The genetics counselor made it seem as if my child DOES IN DEED have DS based on the high number of 4.06. Nothing else mattered not my blood work or the nasal bone. She was very DRY and did not seem to care or she kept pushing was further testing. I do not want to do the Amnio or the CVS for fear of miscarriage or hurting the baby, and the pain for that matter. Are there any other testings or any information that can put my at ease? If my baby is born with an abnormality I will love it no matter what but Im not sure if I can handle it.
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1244180 tn?1325902711
I know many people that got false positives... Don't worry you will love your baby regardless my youngest son is autistic and he is not high funtioning at all and I feel closer to him than my other son I could not imagine life without him... Obviously it's not a good thing I remember my sons life flashing before my eyes when I got his diagnoses I just couldn't stop crying about all the things he would miss out on, I still get sad about it but then I know that he will always have me and I will always be there for him. And now I'm pregnant again and I have to fear the fact that there is a much higher chance of this one having it too I think it's something like 1 in 20 chance so I'm very nervous but I know I will love this child no matter what
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1340965 tn?1285795148
I am so glad that I found this forum. I am 27 y/o and just had my baby's NT measured today at 3.3mm at which they scheduled me a series of other tests and to see the genetic counselor. I did my first blood test but am still waiting for the results, and going to do the second blood test tomorrow. After learning that 3.3mm is the gray area of my baby might having Downs got me so worried and stressed out. I kept wondering what I did wrong on my way home and I'm so scared to death. I'm a little bit calm now after I read everyone's posts about their personal experiences, I will keep a positive mind and wait til my blood test results come back. Thank you to all of you and good luck to all the moms!!
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I am 24 and pregnant with my 3rd child I have 2 healthy daughters at home, I went for the NT sonogram and had a test result of 3.7 which I was told was high, i dont know what my bloods were but I had a CVS done yesterday, I had it done transabdominally.  Hopefully I get the results back today other wise I am going to be going nuts all weekend again worrying about my baby
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Hi all mom`s with the problem of increased NT.
i was pregnant 13 weeks +3 days when i went to check up by my doctor , and he found that i have an increas NT 4.5 MM , i was shocked because i am only 30 years old and he give me a risk of a 40 years old woman of DC , he give me 1 in 13 chance .
i made the CVS test and it comes normal , no upnormalities were found . i was so happy and i thought every thing will be fine if my baby heart resalt comes normal on the 18th week. when i went ther for my next check up he found something called front idema (water in her head starts from the nose )... the doctor told me its an upnormal case so it better to termnait this baby , i went to a nother country to check and they told me every thing is normal and i dont have to be worried in fact i visit 10 doctors  and all of thim told me its a normal baby with normal devilopment .
after that i went to normal check and i was on the 25th week and my doctor found water in her lung .... i was really shocked after all what happen because they were saying its normal.... it was not evry 20 days i have a new issue and a new problem so my privet doctor advised me to termenate , after this whole history that i had . i did it it was so hard spicaly i was on the 25th week . i dont know if i had have the right thing done or not but the risk was so high to have a sick baby ....
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HI, I just got my CVS results back I am having a baby boy and he doesnt have DS or  trisnonmy 13 /18 I am very relieved
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I've read through most of these posts looking for a similar situation to mine and haven't found one.  Has anyone had a normal NT measurement (mine was 1.5), but a high hCG level which now puts my risk of having a baby with Downs at 1:37??  (I am 36 years old).  My doctor told me the ultrasound measurement was the "better" of the two in terms of not having a false positive, but still, that "1 in 37" chance rings in my head all day long and makes me nervous as heck.  We don't want to do the invasive amnio test, but will do a L2 ultrasound at 18 weeks (I'm 13 weeks now).  Anyone else out there with a similar experience?
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1340965 tn?1285795148
Hello moms!

My blood work came back negative despite of my NT being 3.3mm. I'm so relieved! However, I was wondering if there was any moms out there who did the Amnio anyway just to be sure? I heard Amnio doesn't hurt much and risk of miscarriage is 1 in 400, but I see that a lot of moms still would prefer not to do it since it's an invasive test.. I am 15 weeks and 2 days now and considering of getting the Amnio anyway just in case, any advices?
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1227139 tn?1462338230
Hi babyml,

I empathize with you regarding your doctors unsympathizing approach.  There are indeed several options for you to consider regarding other prenatal testing.  If you are wanting a definitive test, I always suggest the amnio, which as a few have mentioned, isn't painful and has little risk when you think of the numbers.  I know it is a personal choice, but it will either afford you the ability to learn all you can if indeed your baby has Ds.  And also, having a nasal bone doesn't mean that the baby doesn't have Ds.  My son does have a nasal bone and it is quite normal and not flattened either.  Some characteristics are not always present, and therefore can make diagnosis from ultrasounds hard.  If I had not had the Amnio, I would have been surprised by the diagnosis at birth.  We did not have markers until much later on like bright spots on the heart, which in itself doesn't mean Ds either.  If the thought of an Amnio isn't for you, then I would suggest high level ultrasounds and further blood testing as your pregnancy continues.  Also, a fetal echo cardiogram is a good idea, which is a high level heart ultrasound for your baby prenatally, to determine if there are any abnormalities.
Please message me, I can give you a lot of details on testing options and also a list of characteristics that you can look out for.

Mojomojo,
I wanted to say, I did the same thing you are wondering about.  I had low risk numbers (1:385) and yet because of my age at the time (35) I opted to have the Amnio, because I needed to know.  It was not painful at all, and it gave me the clarity I so needed.  It also afforded me the ability to prepare and learn everything I needed, as well as book things that I needed for his delivery and also the therapies afterwards.  There are waiting lists in some places.
The Amnio isn't for everyone, and each person has their own reasons why they want to do it.  There is no right and no wrong.  Rather, whatever you decide is what is right for you.  I understand both sides why people choose to do it and not.  All I can say is that I feel lucky that we did it, and that we got the chance to learn and understand before hand.  More importantly, we were able to deal with the "shock factor" (which I have seen in my professional dealings as a parent guide for Ds diagnoses) tends to be worse after birth for those who learn after the fact.  

However, whatever happens - I encourage all who have higher risks to visit my profile and take a look at my blog and resource posts in the Ds Group.  The ultimate result is that your baby, no matter what the diagnosis will be loved and will excel no matter what.  Since there are so many changes and Early Interventions available, Children with Ds are now developing typically.  My son has met all his milestones on time and some even before typical.  I speak from experience and love.  I hope that you are all able to take the time to read our story - because I personally believe, it's hard to understand and know if you haven't been able to see the experience.  We have lots of videos for you to enjoy also.  (My story is being published this year and I already have published two other books.)

Good luck, and if you have any other questions that I can help you with, please feel free to message me directly.

Sincerely,
Sandi (Dragon1973)
MedHelp Genetics Community Leader;
Down syndrome Community Leader & Ds Group Forum Founder/Moderator
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I also got the bad result of NT-3mm last week and 1/80 chance of DS, i did CVS test the other day..... just let all the mum who are in the same situation know. Today, i received the results- the baby was perfectly healthy...thanks god!!! the waiting period was drive me crazy~but congradulations!!!!!!
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1227139 tn?1462338230
Hi Chilynn108,

I am so happy to hear that you got great news!  This is why it is important to note, that a high NT measurement isn't necessarily always correlated to an abnormality.  It is important to note, often many high measurements do resolve in Utero by themselves.  It is also important to note that normal measurements also don't mean everything is normal.
I urge Mom's to understand that NT scans alone, are often inconclusive.  It is only a screen, and determines risk assessment.  It also has to be taken into context with age of the mother, gestational age of the baby, and other follow-up prenatal scans.  Normal is a subjective term also.  Median measurements for the fetal period of 11-14 weeks for different countries is also different.  One suggests 2.5 being the median (or mid) measurement.  Another country defines anything less than 3 mm to be of no consequence.  So, please always remember that these measurements are not meant to be set in stone.

If anyone EVER has any questions at all regarding NT (Nuchal Translucency) Scans, their results or concerns, please please do not hesitate to send me a direct message.  I have posted images also in my profile of what a NT scan looks like, what they look for and a quick but detailed account of what an NT scan is all about.  
See here:   http://www.medhelp.org/user_photos/show/147694?personal_page_id=1186587&photo_collection_id=7160
It is under my Photo section called: Resource photos for Down syndrome, Genetics and Special Needs.  

I also handle all other questions regarding prenatal testing, genetics and chromosomal abnormalities, so as mentioned, please feel free to send me a direct message if you have questions.

In addition to anything I have mentioned, please keep in mind, that while I or others may have extensive knowledge in many areas, you should always seek professional medical advice from your own physician, as it pertains to medical conditions or concerns.

Good luck, and if you have any other questions that I can help you with, please feel free to message me directly.

Sincerely,
Sandi (Dragon1973)
MedHelp Genetics Community Leader;
Children - Special Needs Community Leader;
Down syndrome Community Leader & Ds Group Forum Founder/Moderator
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809236 tn?1280609758
I'm in the same boat as a lot of those women posting here, so it is nice to hear some of those good outcome stories :)  Dragon1973, thank you for all your info, it is really helpful to know all this.

My NT scan showed a perfectly healthy baby BUT my blood work came back "elevated," putting me at 1:195 risk of having a baby with DS. I've been worrying senseless about it, and I cannot be like this for the next 6 months, so my husband and I decided to do the amnio. I'm not looking forward to the procedure itself, but I do NEED to know for sure and that's the only way...

My question may be hardly relevant to the other people but here it is: My amnio is scheduled for July 19th @ 10 am and I am getting on a plane on July 21st @ 9pm for an 8 hour flight. I was wondering if there is anything against flying almost 3 days after amnio? There is no way I can rebook the flight, but I guess I could try to rebook my amnio since I'm only going to be 15.5 weeks along on the 19th and it can be done up until week 20. I really would prefer to get it done as soon as possible since the uncertainty is killing me :(  Would anyone know anything about it? Thanks :)
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HI All,
i am 19 and a week after having my first ultra sound done which was at 13wks and 2days i was given the dreadful news that my baby has a 1 in 5 chance of having DS. i was told that my baby has a nuchal thickness of 3.3 mm and that my HcG levels are very high. as you can imagine, i was absolutely devastated and cried all night. the next day i was advised to have a cvs test done. ever since i have been reading all over the internet about chromosome defects and worrying myself silly! i am due for  the CVS test today, i am very sceptical due to the risks of miscarriage... im debating whether or not to go ahead or wait for an amnio. my doctors have been very supportive and all recommend, especially because of my age that i should find out. please wish me luck, pray, watever u do because i am very anxious about this and do not want to looose my baby!
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After getting the Trisomy 18 diagnosis earlier this year and losing the pregnancy just as we reached the second trimester, we were thrilled to become pregnant only one month and a half later, me at age 35.

We had two normal ultrasounds, at 6 and 7 weeks, with a strong heartbeat. At 12 weeks we went for the NT ultrasound, only to find that the embryo has been dead inside me for weeks. It was about the size of a 9-week embryo, no heartbeat, and already nebulous looking as if it's been decaying all this time. So, it's a "missed miscarriage," and I need to have it removed. I hate to think that all of our hope and promise and love materialized into a dead blob that once again won't make it.

We're devastated and can't believe we're losing two pregnancies in one year. The doctor said this second one will probably prove to be another chromosomal abnormality.

When I asked her if she had seen Trisomy 18 happen twice to the same people, she said she's only seen it in three patients over her long career. One patient had survived Chernobyl and had two fetuses with deformities the doctor had never seen before.

I just wonder if our problem has anything to do with my father's exposure to Agent Orange during the Vietnam War. Am I damned from the start?

Through both pregnancies, I had disturbing dreams. I woke up screaming "No!" dreaming that beautiful wild animals--zebra, antelopes, lions--were being slaughtered by mercenaries with rifles, and there was nothing I could do about it. I dreamed I was fishing and the poor worm on the hook was mutilated and wouldn't stop bleeding. I dreamed people were beating dogs to death in the woods to eat them. I also dreamed I was back in the village where my father served in the war, where we visited in real life a few years ago and saw the high rate of birth defects even among children now, 35 years after the war.

I wrote off my dreams as  anxiety from losing the first pregnancy. Now I think they were telling me what my body knew all along. The first pregnancy was also nightmare-riddled.

We had given this second pregnancy so much hope, and even told family and friends earlier because we didn't want to be jaded from the earlier loss. Every day of pregnancy early on feels like it crawls like a week. It's just so hard to lie to everyone about why you're falling asleep and not having that glass of wine.

And it's just so hard to look forward to another pregnancy when pregnancy has only come to mean death.

If I ever get pregnant again, I will treat the first trimester as 12 weeks of "conception." It won't seem real until we get past the point at the others died. I'll try to protect myself and not get too excited. But it hurts so badly, like losing an organ along with your hopes and love for the future.

I envy women who have "pregnancy innocence," for whom pregnancy means a "baby,"  and is an enjoyable, joyful experience not fraught with doom. Wouldn't that be a wonderful luxury? Don't take it for granted.
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1330108 tn?1333680904
So many false positives which lead me to not do the test. I wouldn't do anything with the results and the amnio can cause miscarriage 1 in 200 chance and no matter what nothing they can do, doesn't change my love for my child or the birth plan so why stress. I'm so sorry you have to go through this stress!
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Like many of you...I sort of stumbled across this site while researching high nuchal translucency test results.

My husband and I went in for our test last Monday, Aug 2, 2010.  At that time we were told that our baby had a NT measurement of 6-7 mm.  I am 37 and my husband is 42.

The doctor was a little difficult to understand but did inform us that there was no need to do the blood work with such a high result.

We had scheduled a CVS for the next day, but later cancelled and opted to wait for an Amnio.  This is scheduled for next Monday, the 16th.  

I have to tell you a little of history to give you our full picture.  

My husband and I had our first daughter, 10 years ago.  She was/is beautiful!  It was a complicated delivery.  Our doctor was called several times by the nurse ...but didn't show until several hours later.  (She was new and trying to build her business and apparently didn't want to leave her other patients)   Anyway, she decided to vacuum our daughter.  She wasn't in a position for this, nor had she descended far enough.  Needless to say, we found out 16 hours later, after our daughter starting having seizures, that she had suffered several injuries from her vacuum extraction.  She had cerebral palsy and would probably never walk or talk...so we were told.

We quickly discovered their predicted outcome was soooo wrong.  By 2, she could walk, talk, (non stop!) and even identify every letter in the alphabet!  What a blessing.  There is 33% of brain that is "dead" due to her injury, but she knew nothing and therefore lost nothing.  Her brain just had to rewire itself to pass along the information.  Don't get me wrong...she has definite delays, but nothing we can't work with.

We were so happy with all she had accomplished, we decided to have another.  Low and behold, during our routine blood work we were told our son had Down's.  My husband and I looked at each other and just said..."God's plan for us is different than ours."  We did the amnio and were ecstatic to find out on Christmas eve that he was just fine.

Fast forward 2 more years.  Thrilled once again to be pregnant...everything was going great!  Then...at 20 weeks we went for our regular blood work only to be told that our baby most likely had Trisomy 18.  We went the next day for an ultrasound to discover there was no heartbeat!  Worst yet, they could not do a DNC, instead we had to come back to the hospital at midnight to deliver our dead son.  It was the most horrific thing.  

We decided to try again immediately.  We had our third child, a girl, 9 glorious months later.  No problems!

Fast forward again 4 years.  Here we are.  We found out we were pregnant.  This little one was not planned by us.  Obviously again, this was God's plan for us and our family.  

Back to last Monday.  We got a high NT result.  6-7 mm.  We do not know what our future holds, but we do know that NO matter what, we will love this baby as much as we love our other children!  We are excited and can not wait to meet him or her.  Although our last two children are considered "healthy", we know as their parents, they are not "perfect"  Neither are we.  This baby will be a blessing to our family.  We continually discover new reasons as to why we were chosen for our first daughter.  It's amazing how many lives she has touched!  We can only imagine how our new baby will do the same.

We go for the amnio in one week.  We will than know for sure and begin to prepare for it's arrival.  We will keep you updated.  Every one...keep your chin up!  
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i wrote back in Oct 2008 and have been meaning to give an update.  I just wanted to let you all know that we had a very healthy & beautiful baby girl Feb 09.  I didn't go ahead with any other tests and decided to go with the advice of my OB, who told me that from his expertise my resluts where nothing to worry about.  It all seems a distant memory now, so much so we are trying for baby # 3.  I just hope it's plan sailing like my first was!!!  Good luck to everyone and hope all is well with your precious little ones...
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I am 37 and recently was given a 1:14 chance of having a baby with DS, as a result of a 2.6 reading and bad blood work results. Today I went for a CVS, only to be told that bc of my baby being 13w3days it was too risky and now have to wait until 24th August for an amnio.
This is one of the worst experinces of my life. i have 2 healthy sons, 11 and 2, and just can't understand why this is happenong!!!

Please keep me and my bub in your prayers!!!
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1227139 tn?1462338230
Dear Mon022; and anyone with high risk or odds for Down syndrome:

I know honey how this feels for you right now.  I wanted to give you some cyber hugs and I wish I could fast forward everything for you to tell you even if it turned out that your Bub did have Down syndrome that I guarantee you, after he or she is born, you will say to yourself, I wish I knew back then that it wasn't what I thought.  I have a wonderful blog, and I am actually creating a brand new website for Mommies who are in the process of prenatal testing with the possibility or actual confirmation diagnosis of Down syndrome (Ds).  I am a parent guide designated by the hospital to help families who receive diagnosis of Ds.  I was you about two years ago, wondering why this was happening to me.  I thought (based on my own mental picture and old school information) that Ds was a terrible thing.  I want to tell you, it just isn't so, and being a police officer of over 13 years, I really didn't believe it could be as good as other mommies told me back then, until I had my son.  I want you to know, that despite the old information that is out there, Ds is not what people think it is.  Before you make any decisions, please take a good look at my current site:  http://welcometoourhouse-myjournal.blogspot,com  I want you to see what I could probably just as easily explain to you is a normal typical baby who has met every single on of his milestones ahead or on time as a typically developing child.  My son is the proof, that Early Intervention (a usually free service for countries such as Canada, US, UK etc.) therapies have made my son as typical as they come.  He is cognitively bright, (also ahead there too), physically developmentally typical and so much fun.  He is a happy baby, who gets cranky when he's tired or hungry.  He would love to play all day, and thinks if he naps the whole world would pass him by.  Gone are the days where Ds meant ALWAYS an Intellectual delay.  The truth of the matter is, the majority of babies born with Ds MAY have mild to moderate intellectual delays.  My eldest step daughter is as typical as they come.  She has all the right chromosomes in the right places, and yet she has a pretty profound learning disability and at the age of 11, she has only started to read this year.  To look at her, you would never know she is delayed.  She talks, runs, plays just like any other kid.  But, she has this serious learning delay.  I guess it tends to be all in the perspective.  This is why I wanted to write to you, and anyone else who is going through what you, I and many many mom's out there who do have kids with Ds.  I certainly hope that everything turns out okay, but I wanted you to know, even if your Bub (which is so sweet to call them because to this day I call my son Bubby) has Ds, I will say again, down the road, you will say too, I wish I knew this what I know now.  It is totally not what you are thinking or expecting.  It's better.

Please let me be there for you.  I will listen even if you want to vent.  I will hold your hand (cyberly) and I will provide you with all kinds of information.  In my blog, I have a really great article I wrote called Down syndrome - The Diagnosis.  If you wish, you can take a read and see if it might help:  http://welcometoourhouse-myjournal.blogspot.com/p/down-syndrome-diagnosis.html

I am hoping to publish my new site all about Down syndrome http:welcometoourhouse-ds.com with in the next few weeks.  The reason I have done this is because a lot of the information out there on Down syndrome is negative, wrong and outdated.  The reality is, parents need to know the real picture, not the one in old medical text books.  I hope you will find my information helpful, and at the very least, find some support while you are going through your prenatal testing phase.  (Which I cover in great detail in my new site.)  My new site also has tons of stories from Mommies out there who all (like you and I) found themselves scared and in this very situation, wondering why, and more importantly what they felt when they were told the odds, then the diagnosis (in the beginning), and how they felt at birth and how they feel today.  You will be pleasantly surprised.

I am here day or night, any time to help you.  And please, do not make any decisions without doing the research.  I tell everyone that, no matter what the results you get are.  You want to make an informed decision, not one based on incorrect information.  The one thing I can say is, take a look at the pictures and watch the video's I have posted in my blog.  They will speak for themselves.

In addition to anything I have mentioned, please keep in mind, that while I or others may have extensive knowledge in many areas, you should always seek professional medical advice from your own physician, as it pertains to medical conditions or concerns.

Good luck, and if you have any other questions that I can help you with, please feel free to message me directly.

Sincerely,
Sandi (Dragon1973)
MedHelp Genetics Community Leader;
Children - Special Needs Community Leader;
Down syndrome Community Leader & Ds Group Forum Founder/Moderator
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I just had my nuchal translucency today and it came back with a reading of 3.5mm.  I have been reading these posts and it has been very helpful.  We have decided against the CVS and amnio as there is a risk of miscarriage.  We have 2 children already, a 10 year old son with autism and a 7 year old daughter with Mosaic Down Syndrome (Trisomy 21).  DS doesn't scare me as much as some of the other trisomies.  I am praying that everything will be ok.  
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My wife and I are expecting and just had a shocking triple scan.  Our results are as follows:

CRL: 66.7mm
NT: 3.0mm
HCG: 1.71 MoM
PAPP-A: 0.29 MoM
Age: 38
Chances of DS: 1 in <5
Test was taken at 12 wks and 5 days


My wife has been in tears for 2 days but doesn't want to go through with a CVS to know for sure.  We'll keep the child for better or worse and love him/her just the same.

During the u/s the technician had a difficult time getting the baby into a position where the NT could be measured.  I wasn't there with my wife but the tech actually left the room to discuss the measurement with the doctor and didn't return for an hour.  I guess this was to ask if the measurement taken was good enough.  It leaves me wondering about the measurement.  Any move down or up would make the risks change dramatically.

I wouldn't be so worried with the NT except that the blood sample measurements point to the same elevated risk.

Any thoughts or advice?
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Me and my wife found out we were expecting our baby on christmas eve.Due to complications in other pregnances we were given a 10 week scan.When the scan was completed we were asked to wait in a seperate room and 20 mins later was seen by the specialist who has overseen our other pregnances. He explained our NT measurment was higher than it should be at 3.7 and they were concerned.It felt like the end of the world.My wife took the cvs a couple of days later and after a nightmare 2 week wait for results we was told it was negative.Although this was a relief the rest of the pregnancy was very stressfull as there are a number of other problems there could be wich that test wouldnt of found.On the 5th of september we had a gorgeous baby girl called esme she has had a number of checks ect by health visitor and all seems good.I wanted to tell you all our story so anyone else in our situation has hope that theres a good chance that alls fine.Good luck to you all i know what your going through im sure all will be fine.







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HI all,

I posted here about 2 years ago when I was pregnant with my son who was given a 1 in 230 risk of DS (NT: 2.7mm, HCG high, PAPP-A low) but born totally healthy.

We're now pregnant with our 3rd child and had our nuchal scan today. Nuchal was normal, but blood was off (same as above). So we were given an increased risk of 1 in 350. We later got a call from the Dr to say that she'd forgotten to factor in one element - nasal bone (which 60% of DS babies don't have), and apparently they now use a 'new program' which factors that in whereas in the past they didn't. The new risk then dropped dramatically to 1 in 1000 with the nasal bone factored in.

Just thought I'd let you all know... as this 'new calculation' was news to us and wasn't in use 2 years ago here (Australia).
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1493518 tn?1291787282
Hi Dragon1973 and everyone,

I'm 39 and had an unexpected experience when I had my nuchal translucency screening. Strange because the doctor there during the ultrasound said the baby "looks good" several times. As we were leaving, he told us that the ultrasound was "encouraging."

Yet, the very next day, when I went to my regular doctor to receive the formal results, she said that the NT measurement was 3.0 mm and that my risk was therefore 1 in 30 (NT plus my age). She advised me not to wait for the blood work, but to book an amnio straightaway.

I am confused as to why the first doctor was so reassuring. Maybe because things like nasal bone (present), heart rate (strong), movement (strong)?

I'm not sure what to do. I am considering trying to talk to the other doctor to see what was in his head when he sounded so reassuring. Also wondering if I should try to have another ultrasound. Or maybe wait for the bloodwork. Or just wait for the Amnio (currently booked for Nov 22).

Does anyone have any advice?

I love this forum, BTW.  Just came across it today, and it's already helped me a lot.

Molly
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1493518 tn?1291787282
Hi JAG231,

I am curious to hear whether you guys decided to have further testing and, if so, what were the results. Really hope everything is OK.

I have an amnio scheduled on Nov 22 -- it's very hard to wait.

Molly
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Is there anyone that did Nt at 14 weeks. I did mine at 14 weeks and my blood test at 14 weeks and 1 day and my results came back very high 1/143 for my age in only 20. Im just curious about wether or not an NT should even be done at that time..

please post back.. cheers!!
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I am currently almost 13 weeks,  Last week i had my bloods and NT Scan done,   the results are i am High risk with 1 in 202 for DS (i am 31).   I am booked to have an amnio on the 23 Nov.  I am so scared of the results.  I guess you just assume everything is great and your baby will be perfect, then something like this happens.   It took me a few days to calm down (and stop crying).

My NT measurement was 2.9 and the baby wasnt moving during the scan,  My OB is not concern by the movement or the measurement.

I hope your result are perfect.    I hope you are able to keep your mind off the up coming amnio, I know it will be hard,    
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1493518 tn?1291787282
Our amnios are 1 day apart. Do let me know how everything goes for you!

Your risk level sounds pretty low to me, so I am optimistic for you.

Molly
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I will let you know how everything goes,  please do the same :)   It would be nice have someone else out there going through a similar situation at the same time.  

All the best to both of us  and all others out there !!
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1506213 tn?1289713144
Hey there everyone,

Just wanted to share our story. My husband and I found out that our NT measured to be 4.2 mm at 9 weeks 5 days. We have had two miscarriages so hearing that news was startling. I really wanted a good ultrasound where they didn't look concerned.

My husband is in medical school and I'm a CNA so we know quite a bit about medicine. And when the doctor told us that there was a high risk for Turner's Syndrome, we were skeptical. As soon as we left, we hopped on the computer and looked up all the information we could (Thank God we have access to Pubmed and all of the other medical articles) and found that an accurate reading can only be done weeks 11-14. Turner's is less likely, as well, so we knew that the doctor must have been in his ultrasound fellowship and did not know much about the test.

(Did you know that the NT measurement isn't disclosed to the mom in Japan? It's because there were too many people having abortions and when they did biopsies on the fetuses, they found there was nothing wrong with them. So, keep that in mind! The test isn't the only indicator!)

Week 12 we went back to get the next ultrasound and the measurement was within normal range. They did the blood work and it came out negative. (1 and 5000!)

So, DO NOT trust a NT test before week 11! Your baby is still growing!

To all of those who are struggling with being scared of Down's/Turner's, I am thinking of you. Good luck mommies!
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I am so confused. I am 26 and had an NT today and got the measurement of 4.31 and my doctor said "that's normal, we only worry when it is above 5". But clearly after reading this forum and doing my own research that is incorrect. I absolutely love my doctor he helped me give birth to my beautiful healthy boy, but I can't say I'm not a little upset right now. I will be calling the office in the AM to discuss my "normal" measurement.
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Hello.  I am 13 weeks pregnant and just had the NT test and blood work on 11/18, at 12 weeks 6 days.  I am 35 years old and thought it would be a good idea to have the test.  I just assumed that I would go in for the US, and everything would be normal.  The US tech even said during the scan..."your measurements look good."  So, of course, I thought everything would be fine.  After the scan, I waited about 10 minutes or so, and the genetic counselor came around.  She took me into a room and went over my results with me.  I looked down at the piece of paper and noticed one of the lines read "AT INCREASED RISK."  I thought...oh no...this can't be.  The counselor went over the results and tried to explain in a way I would understand.  My 2 blood measurements were considered within normal range and dropped my risk from that of a 35 year old to that of a 20 year old.  Based on this measurement alone, my ratio was somewhere around 1 in 8,0000 or so.  She then covered the NT measurement, which was 2.7.....which put me in the 95th percentile.  She said that they use the 95th percentile as sort of the threshold measurement.  I have read many sites that describe increased risk as above the 95th percentile.  However, they use the 95th percentile and above.  So basically, with the NT measurement, my risk rose from that of a 35 year old to that of a 39 year old.  If I remember correctly, my ratio was 1 in 102.  She tried to stress that there was a 99% chance that I would NOT have a baby with Down's.  That made me feel better; however, I kept focusing on the words...."AT INCREASED RISK."  What if I'm that 1%?

I am due to have another US on 12/15 for more measurements.  I'm praying that these measurements will be normal.  We have not decided whether we would have an amnio.  With the difficulty we had getting pregnant, I hate to face the risk of a miscarriage.

I am thankful I came across this site b/c it has comforted me reading everyone's posts.  I hope and pray everything will be fine.  Best of health to those little ones out there!
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Hi Everyone
I just thought id post what happened to me to help with some positive thinking. At 12 weeks I went for the first trimester screening and got a call back from the doctor saying the nuchal translucensy was 4.0mm. My husband and I were sooooo stressed out since this was my first pregnancy and the both of us are 28years our statistics were not as high either. Following the test we were sent to genetic counsellor who went over all the information with us and what our odds were and so on. I decided not to do the diagnostic testing and instead did the IPS blood screening and the 2nd detailed ultrasound at 18 weeks to look for any markers. Our results came back good. The nuchal was 6.0mm in the second screening which was on the high end but right at the cut off they like to see. At 20 weeks we were sent for an echo appoint to check the heart of the baby which again came back with good results. Eventhough our results came back negative, nothing was for sure that i still stressed throughout the whole pregnancy. You'll be happy to hear that on Sept.28th of this year I gave birth to a beautiful healthy baby boy. Everything was okay and at 2 months he is so full of energy:) So for those going through these scares, think positive !!! I know its easier said than done but these tests are just "screenings" and nothing is for sure.
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I am 12 weeks pregnant...we went to our first ultrasound on Monday...after having two healthy pregnancies I wasn't very concerned...The Dr. said she could see something that didn't look right so she sent me to the local hospital for another ultrasound on Tues.  I had researched NT that night so I had a good idea what it was...at the ultrasound it was pretty obvious an abnormal amount of fluid was present.  I haven't recieved the official results yet but the US technician estimated a measurement of 5mm.  Does anyone have experience with a reading this high?
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I'm 33 years old with a healthy 2 1/2 old at home. Went for 12 wk NT test and it was 3.0mm...just got blood work results and they were not good....1/57 risk of DS and 1/37 of Trisomy 18/21...I'm trying to stay positive - it is still less than 5% chance but i am also terrified. Can't have amnio for another 2 weeks! Anyone else hear stories like this?
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Mine is 10.8. I found out yesterday. Mine is unusually high and I dnt kno why. I'm going to get my blood results today. Its just nt fair, I'm only 21
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1383644 tn?1286939293
I did not have any testing done because our baby is perfect no matter what. Just love your baby.
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My NT came back at 4.06mm and I am not one of the false-positives mentioned.  T21XX is the result from CVS.
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1548468 tn?1319033315
I'm 26 years old (27 in Feb) currently 16 weeks pregnant with my 2nd child and had my NT scan and bloods done at 13w+4 days with a result of 3.4mm and a high risk of 1:60 for downs. My Husband and I have decided to have an Amnio to put our minds at ease and to have the time to educate ourselves if the results are confirmed to be the worst case. (We will not be terminating what ever the outcome.)

Our Amnio is scheduled for Tuesday the 4th and I am pretty nervous about it! Just wondering if anyone has had similar NT results to mine and have turned out fine?

Rachel
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When I had my NT scan and blood drawn it came back high too.  I was at a 1/135 risk for Down's Syndrome.  I just got another ultrasound (at 22 weeks) and the tech said that everything was looking completely normal with my baby. Everything looked to be right on track with where it should be.  I have a regular appointment with my Dr. next week and will find out what he says then.  Just remember there are far more people who have this test done and have normal babies than that have babies with 'defects'.  And while 1/60 is scary to think about just think that you still have 59/60 that your baby is perfectly normal!  Keep your head up!
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Hello I'm just 20 years old n yesterday i got the news that my baby has that  nuchal translucency i was i could be as lucky as you. But the doctor went direcly to a pregnancy termination without telling me exacly what the baby can come with i am so nervous and scared and omg i don't know what to think or say :( they haven't either give me options to do my tests again the doctor was really focus on an abortion I am just 14 weeks
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1227139 tn?1462338230
Klaudette90,

Please please do not take the only advice that they give you.  You have much more options then termination for only a result of a high nuchal translucency.  You definitely need to have further testing or screening which in the case of diagnostic testing can only tell you for sure if there is an issue.  Only an Amnio or CVS can confirm a diagnosis of a "problem" and coming from a mom who did find out at 18 weeks along (and I had no NT issues or ultrasound issues) that our baby had Down syndrome, we forged ahead to learn everything we could and he is one very typical baby and the light of our lives.  He is now a year and a half old and has met every single milestone there is.  You can take a look at my blog (Which does discuss many of the things people are concerned or worried about at www.welcometoourhouse-myjournal.blogspot.com)
In any case, I have a list of types of tests that you can still do to find out more before you consider even doing a Amnio or CVS.  Just going from an NT measurement alone is very concerning, since there are protocols that doctors must follow and I strive to educate people on their options.  One thing is for sure, having a high NT measurement does not always yield a baby with a chromosomal abnormality.  Now having said that, can you tell us what the measurement was?  And it's also important to know what the range of "normal" is in your area.
Please message me directly, I have much information that I can share with you and also give to you to help you get a more definitive answer.

In addition to anything I have mentioned, please keep in mind, that while I or others may have extensive knowledge in many areas, you should always seek professional medical advice from your own physician, as it pertains to medical conditions or concerns.

Good luck, and if you have any other questions that I can help you with, please feel free to message me directly.

Sincerely,
Sandi (Dragon1973)
MedHelp Genetics Community Leader;
Children - Special Needs Community Leader;
Down syndrome Community Leader & Ds Group Forum Founder/Moderator;
MTHFR Group Forum Founder/Moderator;
Pregnancy: June 2011 Community Leader
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I just got back from my appointment and the doctor said I'm 3.0 which is a high risk I'm only 23 yrs old and don't know what todo I got my blood taken today and I should know more by 4 today or 2marrow I don't understand any of this I hope I should worry as much as I am I need someone that knows more about this
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1227139 tn?1462338230
Hello Love,

First, congratulations on your pregnancy!  The most important thing I can pass along to you about NT measurements is that they are not singularly reliable as a diagnostic tool for determining Down syndrome or other chromosomal abnormalities.  Having a high NT, (and this is very dependent on your area's range for what they consider "normal" or high since each and every area have different median and ranges.)  In Canada, high isn't considered until over 3.5mm.  In some States (US) high can range from over 2.5mm to 3.5mm.  So, if you were here local to me, your measurement wouldn't be considered high risk.  Now, if in your area, 3.0mm is considered high, the protocols usually are to refer you for further screening or absolute diagnostic testing which are more "invasive" but definitive.  I do know first hand how stressful all of this can be, for it is an unknown and secondly it's unexpected.  For some perspective though, 80% of babies born with Down sydnrome are actually born to mothers under the age of 30 and this is solely because that age group has more babies, which raises the likely hood that a random occurrence of Down sydnrome or Ds can occur.  (Statistically 95%+ of Ds are random cases and not what can be called a genetic translocation (or likely inherited).)  While some of my information might or might not be confusing, the point is I wanted to stress that having a high or higher NT measurement can be, by itself, unreliable.  Usually the NT measurement is correlated with other things such as an anatomy sonogram, blood work and more.  Only then can they determine a truer risk factor for Ds.  Also, I often have to explain to expectant moms that when a measurement is taken, you have to realize that the area the technician is measuring is only millimetres wide at best, and the fetus is very tiny at 11-14 weeks.  So even at the best of times considering that the baby MUST be lying transverse (or across) in order to take the actual measurement, (which if you know how babies move or lie in utero) can be very difficult.  I myself, who had a very experienced specialized technician had to have the test done on three different days simply because our baby (in my current pregnancy) would not "co-operate" to get an effective/accurate measurement.  So taking all those factors in, and ensuring at the very least the person is very qualified and experienced (which here in Canada Ontario requires the technician be specialized to take NT scans) can drum up a lot of factors.
Now, although I have given you perspective which can lead one to think that the scan itself isn't reliable, the fact is a higher NT does often correlate with the increased risk for chromosomal problems.  So, let's say truly the measurement was definitely high (over 5mm) and was accurately obtained and also correlated with other screening tests, there remains the possibility (and possibility only) that there can be a chromosomal or a Neural Tube defect.  This result should prompt your doctor to refer you to a genetics counsellor or provide you more options as to determining if the risk is "Real or Legitimate".  At about 9 weeks along or further, you can opt to have a CVS test which takes a sample of cells from the placenta.  This is one of the more invasive types of tests but will yield an absolute result.    Another test is the Amniocentesis which is only usually available after 15-16 weeks of pregnancy (I have had this twice).  Again, this test is considered invasive but carries one of the lowest risks to your pregnancy (and even lower the farther along you are).  The risk is said to be less then 1/2 a percent in addition to normal risks for miscarriage.  If you are worried about risk of loss, then there are certainly other forms of "screening" available but please do understand that screening versus diagnostic testing is only another way of determining the potential risk and can NOT confirm a diagnosis (but certainly make one easier to expect should the results go that way).
I have a list of types of screening and testing if you wish which are available so that you can further consider your options (I can send this list to you if you wish, please message me directly).  
I will also add, while I was definitely in the same boat as you were, not knowing anything about Down syndrome or other chromosomal issues, I did the positive reserach (after learning our son did indeed have Ds via Amnio) and since we knew we would not terminate, made the choice to educate ourselves as much as possible and learned some very interesting facts (that we did not know about) along the way.  One of which and most importantly is that Down syndrome was NOT what we thought, and today we can prove and say our son is very typical, smart and the joy of many peoples lives.  I do blog, educate and speak about Ds now because I knew first hand that people had preconceived ideas about Ds (like I did) that were so very outdated, and incorrect.  Most doctors (unfortunately) are the most uneducated about Ds (currently) and therefore are the reason why termination is very high.  I invite you to take a look at our blog, (if you wish to see how "normal" or typical as I would rather say, our lives and our son's life is.
www.welcometoourhouse-myjournal.blogspot.com.  Not only do I speak about normal day to day life but I also have a variety of resources and links for those people interested in knowing more.  In there (more specifically for actual diagnoses) I have written a section called, Down syndrome - The Diagnosis.  The hospitals in our area actually use my written information to pass onto families to help educate them on the most often asked questions regarding Ds and the choices a person may face when receiving or facing a Ds diagnosis.  (I have also authored several books and articles on the topic).

Sorry to be so long winded but I know that people often have so many questions and realistically it's hard to put it all down in one post.  I know you have many questions and I offer help with answers as a person both who has gone through it and also one who educates others on it.  I am not sure where you are located but I do run a support telephone line for those in the USA and Canada.  I normally call (or receive calls) anyone who would like answers as it's often much easier to do so live rather then email or messages but I certainly do so directly though here MedHelp or through my blog.  Please feel free to message me directly if I can help to answer more questions for you.  As I mentioned, one thing I am sure many people do not know (unless they have read through every single post on this thread) is that high NT scans can mean absolutely nothing and visa-versa, normal NT scans don't mean that nothing is wrong either.  I have personally had both situations.  My son (who has Ds) had normal scans, normal NT measurements and has Ds and there are many high NT measurements results where the baby was absolutely fine.  So if anything you take away from this is to not panic or stress (even though it may seem impossible) unless you have much more definitive results.  I hope I have helped or can provide more if you wish.  My offer to assist with questions and answers extends to everyone or anyone interested.

In addition to anything I have mentioned, please keep in mind, that while I or others may have extensive knowledge in many areas, you should always seek professional medical advice from your own physician, as it pertains to medical conditions or concerns.

Good luck, and if you have any other questions that I can help you with, please feel free to message me directly.

Sincerely,
Sandi (Dragon1973)
MedHelp Genetics Community Leader;
Children - Special Needs Community Leader;
Down syndrome Community Leader & Ds Group Forum Founder/Moderator;
MTHFR Group Forum Founder/Moderator;
Pregnancy: June 2011 Community Leader
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