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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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