Bad Nuchal Translucency results...high risk. - Pregnancy 18-34

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Bad Nuchal Translucency results...high risk.

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msjenna

May 13, 2011

To: All

Hi there,

I think this forum is wonderful, and have been reading through the many posts and responses.  Thank you all for sharing your stories and advice.

My husband and I are 16 weeks pregnant and are wondering whether to proceed with an amnio - we just got our results back from our IPS test, and it shows elevated risk for down syndrome 1:170, with a NT of 2.3mm.  My doctor didn't advise one way or another, but I'm very nervous about the risk of miscarriage with an amnio (1:200).  We've got 2 beautiful children now, and have also suffered through 2 miscarriages (one happened the night before our wedding).

I'm looking for experiences of those who have proceeded with having an amniocentesis - thoughts?  what was it like?

We're scheduled for a level 2 ultrasound in 2 weeks, which is a long time to have to wait, but even that won't tell us for sure whether the baby has down syndrome (thank goodness it will at least indicate whether the baby is healthy).  I'm just torn as to whether I can live for the next 5 months not knowing...

mommom2

May 13, 2011

To: msjenna

Hi, I've never had an amnio, I've always opted out because of the risk of miscarriage. I've had 4 miscarriages and I didn't want to maybe cause one. The thing you really have to ask yourself is if you would end the pregnancy if the results weren't perfect. Me, I would never terminate so there was no point in finding out. I guess you could do research on how caring for a baby with a perticular condition would be different then a completely healthy one so you could be prepared. But I figured we would just figure it out once him/her got here so I didn't want to compromise a healthy pregnancy. Good luck in your decision.

msjenna

May 17, 2011

To: All

Well, we've made the decision to proceed with an amnio (Thursday morning). In our genetics counselling session, we were advised that the risks of miscarriage due to amnio in my area (ottawa) are now 1:400, not the 1:200 that I've been reading elsewhere. The lower risk eases my mind a bit, but I'm just anxious to get this entire thing behind me and focus on having a healthy pregnancy, no matter the outcome of the amnio. Crossing my fingers tho.

ultrafry

May 18, 2011

I am 12 weeks and had an NT measurment of 2.8mm as well they found several tears in the placenta. I'm 37 and have two other healthy kids...but I have never had a high reading or any of these problems. They took me in the next day (yesterday) to get a FISH test ( a CVS with many excelerated results - 3 days) They did tell me the U/S showed the two well developed nasal bones and the heart was was at 155. I am sooo nervous about everything, I can't handle the waiting. It is nice to hear other simular stories with happy endings! : )

Does anybody know what it means if there are no chromosomal or heart/birth defects but the reading was still high? Could this be attributed to a future problem down the road for the baby?

oksana38

May 18, 2011

To: Just an update

Unfortunately, my prenatal screening that gave positive for Trisomies 13/18 and Down's syndrome was not false. My risk was 1:3, and amnio confirmed that my baby does have Trisomy 13. It's just unluck.

vdvalentine

May 20, 2011

To: All

Hello everyone. I am a 28 year old women who is 12 wks pregnant with mono/di twins. Just had and NT scan done for both babies. The results came back that one of my baby's nuchal fold is within normal range but the other one is almost at five. Has this happened to anyone else? If my baby's are identical, how can there be two separate readings....any advice??

Kelly502

May 31, 2011

To: All

I am 37 years old and 15 weeks pregnant with my first. I has the Nuchal translucency screening done at 10 1/2 weeks. The fluid behind the neck was .074 which was great! The DS risk is 1:861.

I to am worried and have been reading so many different opinions online and it is so scary!

cangi

Jun 02, 2011

To: All

I just wanted to let you know what happened...We scheduled a CVS with an excellent doctor. It went off without a hitch and after a few weeks of waiting, we got back good results which was a huge relief. I was absolutely beside myself waiting for the results- going from hope to despair. Thank goodness that is over.

Since there are heart problems in the family, I've scheduled a 16 and 22 week scan, plus a heart echo at 20 weeks. I don't think we would terminate unless it was something absolutely horrible, but this way if there is a problem we will be prepared and possibly take care of it in uetero. Best of luck everyone.

bella_baybay

Jun 02, 2011

To: 21yrs old, normal u/s but high blood test for NT

Hi all,
im 21 yrs old and my partners 23. Both non smokers or have any down/s in our familys. This is our first baby due 28th november 2011. We werent recommanded the NT test because of how young we are but decided to go ahead with it just to be sure, my scan came back really good with the lady happy with what she saw. Like we both thought, yup everythings fine like always. Then my bloods came back triple what it should be. My risk is 1;78 which is crazy for someone whos 21 non smoker and no family history i think so!!
After crying and thinking about the worst we decided to have the amnio test. Where waiting for the appntment to be booked. After googling it for 4days straight theres alot of positive stories :) makes me alot happier. Fingers crossed !! x

mscannon22

Jun 04, 2011

To: Anyone

I am 22 years old and I have a child with Hydrocepalus and was very concerned about something being wrong with the baby Im carrying now. I expressed these feeling to my regular ob/gyn and he referred me to the maternal-fetal specialist they did a NT ultrasound after I told them my fiance's twin brother had heart defects at birth and just recently died of a heart attack. The measurements of our baby's NT was 4.3 and they didnt do blood work or anything they sceduled me for a CVS. They did say I was 1:1000 for having a child with DS, Trisomy 13 and 18. I already have one child with disabilities and I have cried non-stop since I heard this news would make me feel better if I heard that things will be okay from a simular situation.

coopersmom186

Jun 09, 2011

To: mscannon22

I hope your results are normal. I know how awful this wait can be as we recently went through the same thing several weeks ago. I am 32 so I decided to go ahead and have a 12 week scan even though I had no reason to think the results would be abnormal. We have no history in the family of Downs or any other chromosomal disorders. In addition, our first son was completely healthy. After the ultrasound, we were told that our NT was 4.5, and our doctor suggested a CVS, saying that the blood work would likely show a high statistic as well. She was not overly optimistic with us. We went in for our CVS, and the ultrasound tech actually gave us a high NT of 5. When my husband and I left the appointment, we were even more worried than before. I have spent the past 10 days making myself crazy with worry. We were going to keep the baby regardless, but just waiting on the results and knowing that the possibility is there and it's high is no consolation. I asked friends and family to pray for us and with us for this child. That's the only comfort I could find. Finally, Tuesday afternoon, we got a call saying that our results were normal. What a relief and an answer to our prayers! We still have to go back for another ultrasound to check the baby's heart, but I am placing that in God's hands as I can't keep worrying about this. Thankfully, our results were good even though our numbers were high. From what I have read on here and other forums, that does happen often, so hopefully you can find some peace in that, although I know from experience, the only real relief is getting the phone call you are waiting for. I wish you all the best! Love and blessing.

Meagan1979

Jun 29, 2011

To: All

Hello! Yesterday, my husband and I had our NT scan. I was 12w1d. Everything in the scan came back fine except for the NT measurement, which was 3.3mm. The nasal bone was present. We don't get out blood test back until next week, unfortunately :( I am 31, this is my first pregancy and no family history of any chromosomal abnormalities of any kind. I'm fairly calm, but I just want the bloodwork back ASAP. I have come across conflicting information. Some sources state that the maximum for normal is 2.5mm, some say 3.5mm. Anyone know which is correct, or where I can find this information? Thanks!

SwedishAnna

Jul 01, 2011

To: Everyone

Hi all and thank you so much for all your posts here - I have been back many times to get as much info as I can! Yesterday we had our NT scan with a result of 3.1 and were told that the little bub was only 42 mm so not yet 11 weeks old. This all put us at very high risk and it doesn't help that I am already 36. We have another U/S in 3 days and if needed I can then also do a CVS...This is not how I pictured all of this to happen!! I cant think of anything else and it seems completely hopeless. Is it actually possible to have a healthy baby with these results.....xxx

Meagan1979

Jul 02, 2011

To: SwedishAnna

I know exactly how you are feeling! But I'vebeen reading a lot and there seem to be so many variables on the measurements, there's still a good possibility that everything is going to be fine. I am still waiting on my blood results, but I am trying to remain positive. Here is a study I found. It is hard to read some parts, but a lot of the charts/graphs really helped with some of the statistical information.

http://www.sogc.org/jogc/abstracts/full/200903_Obstetrics_4.pdf

Best of luck!

SwedishAnna

Jul 04, 2011

To: Meagan1979

Hi! Thanks for your comment! I had my second U/S today and the little one was now 5.0 crown rump lenght and the Nucal measurement had gone down to 2.6 (!!) still high, but I am pleased its going in the right direction. In fact I shouldn't even have had the first result as it was too early to do ( before 11 weeks of pregnancy)...Now I am awaiting the blood result in 3 days.. Good luck to both of us!! xxx

Meagan1979

Jul 05, 2011

To: SwedishAnna

Good luck! Waiting for the results is tough! We got ours today, and they 99.3% confirmed we are having a little boy, which was my gut feeling all along. However, our risk factor is now 1/38. Based on age, my baseline is 1/512. The results we got, 1/38, is comparable to a 43 year old and I am 31. I am a little nervous, but when I did the math, that is still a 97.37% chance all will be fine. We meet with a maternal/fetal specialist soon to go over options.

SwedishAnna

Jul 06, 2011

To: Meagan1979

Hi Meagan,
Since you found out you are having a little boy ( congrats!) was it amnio or CVS testing you had done? And in that case they should give you the results with 100% certainty I understood it??
I got my blood results today and even though they were normal, my age (36) and the 2.6 NT measurement gave me a 1/80 risk of downs...So tomorrow morning I am having a CVS. Not looking forward to it and scared of miscarriage....But at least we will know for sure. Not that I know what I would do if I got a positive result, would make that decision then....
Really good luck to you, pls let me know what you find out! Its true, when you start calculating % it really feels like you should be in the clear!!! take care

Meagan1979

Jul 06, 2011

To: SwedishAnna

Actually, the genetic center we had out NT at does a DNA blood test to determine gender any time after 11 weeks. They have a 99.3% accuracy. Here's a link:
http://www.geneticstesting.com/gendertest/gendertest.htm

Since they did my blood for the NT, they went ahead with the gender determination. It was tough, being so excited about finding out we are having a boy, but then getting the results. We meet with the maternal/fetal medicine specialist on Friday, we'll get more info regarding our tests and what our next steps are. Due to how far I will be, we will most likely proceed with an amnio. Good luck on your CVS! I know it can be scary, but if you feel it is the best step for you to take, you absolutely should. There is a group on babycenter.com about prenatal testing. It is
http://community.babycenter.com/groups/a14145/prenatal_testing. There is also one regarding amniocentesis, if you are interested: http://community.babycenter.com/groups/a2895185/amniocentesis_support_information_group

I wish you the best of luck!

santatooth

Jul 15, 2011

To: cangi

my wife's 32 and had her NT test done at 10weeks (not sure why our doctor decided to do it that early) it came out at 1:378 which, according to our doctor, is a higher risk than other women in her age (supposed to be around 1:600) that totally upset my wife so i called the doctor to discuss our options. she said the scann itself was allright but her blood results was lowering the ratio drastically... the test was done early and so she had to use a DIFFERENT formular to calculate the result! i asked her if we could repeat the NT tests two weeks later at 12 weeks....

and now, we just got the results from the 2nd testing (again scan and blood) and it has now changed to 1:20000! it's so high in fact that i tend to believe the first number...

either way, it shoes that
a) this whole thing is far from being an exact science (meassuring tiny lines from a black/white picture full of movement and horrible resolution!)
b) apperently it makes a huge difference when you do the test
c) before you do anything that has a higher chance of damaging your unborn baby than having the fault you are trying to proof, maybe simply repeat the NT test - maybe even by a different doctor...

all the best & good luck to all of you!
nik

SwedishAnna

Jul 23, 2011

To: Meagan1979 and Santatooth

Hello! Had the CVS and it was not painful but unpleasant....Anyhow, we got both preliminary and final results and all is good! :) They will still do a more in-depth ultrasound at 20 weeks but hopefully no problems there either...
Santatooth - we also had the first scan too early with a high NT result. Just after 4 days ( week 11 and 3 days) we did the next one and the NT result had gone down from 3.1 to 2.6. Had we done it in week 13 like we did with our daughter maybe it would have gone down to normal levels! Who knows, like you said, its not an exact science and thats why I suppose its not mandatory to do it because it can cause more distress than anything!
Good luck to all of you with your pregnancies, it is such an emotional time (even without these test results to think about!)
xx

beachgirl4508

Aug 18, 2011

To: everyone

This is my 2nd pregnancy and I am 27. I went in for my 12 week NT Scan w/ blood work and the babies neck looked normal, I think 2.1 mm, and at 12 weeks they could not really see much more. At 14 weeks they called me back with the results and the doctor told me that my results came back abnormal and that my odds of this baby having DS was 1:140, which is equivelent to a woman over 35! The doctor said that my blood chemistry and the babies blood chemistry was abnormal....I was freaking out and crying! My last pregnancy was so normal all the way to the end, and no complications whatsoever. My husband or I have no history of chromosomal abnormalities. I feel like I may have done something wrong. I have another ultrasound at 16 weeks (8/24/11) and they will be looking for soft markers. Im really praying that the ultrasound looks good. I will not have an amnio and am willing to take care of my child whatever may happen, Im just scared for the baby and am praying that the baby is healthy. Any words of encouragment would be appreciated! Thankyou :)

Mum2B3

Aug 18, 2011

To: All

For everyone that got a HIGH RISK I just want to give you all some advice.

A) DONT STRESS
B) DONT HAVE AN AMNIO
and C) DONT HAVE AN ABORTION

I am 21 now (20 when i did the scan) and i didnt just get a high risk, i got an EXTREAMLY HIGH risk.. The doctor demanded i go to counciling at the hospital, which i did. There they wanted to book a next day abortion. Not even giving me time to think. I told them i wanted to first get the opinion of my Doctor, which reacted in saying 'What are you waiting for, you dont want to raise a child with down syndrome'.I refused to listen to their advice (i couldnt possible terminate another human bean, let alone my own baby!!) I decided im going to have the baby, so i begun to prepare myself for a child with many abnormalities, i wanted to be ready.

I must say the next 6 months was the most stressful time of my life!! Instead of enjoying my pregnancy I was constantly worried. Although i came to terms that i could not terminate my pregnancy, As much as i told myself that i would love my baby no matter what, It was hard facing the fact that i had an extremly high risk and honestly I was not very keen. I didnt enjoy baby shopping, and i was not excited at all to have this baby.

Now My baby is now 6 months old and as healthy as she is beautiful (thank god). I changed my Doctor because a doctor that would encourage someone to have an abortion because of tests that no one even knows how is determined, does not deserve to be anyones doctor. I honestly wish I wouldve enjoyed my pregnancy rather then being constantly stressed and worried.

Just to add, alot of my friends, both younger and older (20's and 30's) have experienced the same thing. One of my friends was told her baby had no arms or legs during all her ultrasoulds!!!!! EXTREME!!!!! She was strong enough to keep her baby and Her daughter is now 12 and in 100% fine.

I think that the country is trying to reduce their population or somthing, or they dont want as many people giving birth, so they have come up with this theory to make people have abortions when in fact people that keep their babies have the healthiest happiest babies.

I dont know why Doctors even recommend this test being done when there is no proof behind the results, and we dont know how they reach their conclustion of a percentage. Such test that has more false positives then posotive positives, should really be dismissed. I know for a fact if i was to have another baby down the track, I would NEVER even think of doing this stupid, horrible inaccurate tests again. And whatever happens happens, at least i get the chance to enjoy my pregnancy.

All the best of luck to all that have gotten a high risk, keep strong, and remember my story hopefully yours will be the same and all will ok:-)

oksana38

Sep 02, 2011

To: Mom2B3

As to your advice:
A) How is it possible to not stress? Any normal human being that has feelings will stress in a situation like that;
B) It is everyone's personal decision to have amnio. Are you trying to preserve the planet population or what? My amnio confirmed that my baby had Trisomy 13. I don't know where you live but where I live amnio is 99.9% accurate. Good for you that your baby didn't have any issues. However, this is not the case for everyone;
C) It is everyone's personal choice whether to have an abortion (I wouldn't want to use this word actually, because it's not that you're getting rid of a healthy baby that you can potentially bring home). And, if you are okay with taking care of a disabled child, not everyone else is. Just remember that.

oksana38

Sep 02, 2011

To: Mom2B3

And also, no one forced me to get an abortion. My genetic couselor kindly went over the facts and my options. It was up to me to decide.

xsara_d

Sep 06, 2011

To: All

I'm 31 and expecting my 3rd child. My NT scan came back with a high reading of and the hospital advised me that my risk of having a Ds baby was 1:274. I turned down amnio and CVS because I felt then that I would keep the baby regardless of the outcome of those tests.

Today however, I went for the 20 week detailed fetal scan which showed several markers highly indicative of Ds (short limbs, low amniotic fluid level, etremely small sized baby according to gestational age, abnormality in the clavicle vein/artery, esogenic bowel tract, backflow of blood in the heart). I'm numb and as much as I would like to keep myself optimistic, I've come to realize that I am not (probably not ever going to be) emotionally equipped to raise a child with Ds. In retrospect, I should have gone for an amnio when it was offered, if only to give myself peace of mind. I will be going for an amnio as soon as I can and proceed from there.

Just needed to unload here. Thanks for reading.

LazoMom

Sep 13, 2011

To: All

First of all I want to let everyone know how helpful these posts have been for me!

I'll give you a little bit of my history, which some may find helpful and then let you know what's currently going on for me.

During my first pregnancy (26 years old at the time) the ultrasound at 11w 4d showed a measurement of 3.3 mm NT putting our chances at 1/10 of having a baby with DS.  The genetic counselor insisted on scheduling an amnio right away and didn't give us any other options.  Luckily we had already had our first blood draw for the combined screening, so I knew it was an option to consider these results and I told her that I wanted to wait until we got the results from the second blood draw to make any decisions about whether or not we would do an amnio.  She insisted and insisted that I AT LEAST schedule the amnio, which really bothered me.  At the time I felt certain that our baby was fine so I dug my heals in and told her that we'd just decide later.  As it turns out our results from our second blood test put us in the clear and sure enough our son was born happy and totally healthy. With this experience I felt very calm and collected throughout.  I was sure that our son would be fine and I wasn't going to allow this bully of a Genetic Counselor talk me into an unnecessary procedure that could put my baby's life at risk.  When everything came out ok I felt like I couldn't really trust these people and that they weren't really there to help you through the process, but to schedule amnios.....  I even started to get all conspiracy theory crazy and began thinking of scenarios where the counselors get points for every expensive test they schedule.  Anyways, let's just say that I was a little traumatized by my experience of having to feel so cornered and that I really had to argue with someone to do what I felt was best for me.  All in all, everything turned out ok, water under the bridge, right?

I am currently pregnant with our second child (now 28 years old) and our 11w 5d NT screening gave us a measurement of 5.5 mm.  Here we go again!!!  What are the odds of this happening twice!?

I've read through all of these posts and just from this sampling, I can see that indeed this is very large.  We immediately met with another genetic counselor and she wasn't nearly as weird as the first lady, luckily.  However, to be fair, since I've been traumatized into distrusting this process, I've been on high alert for things that don't add up. For example, she gave us our odds as being 1/12 chances of DS.  I'm not sure why our odds are less than with the smaller measurement with our first, but anyway.  I decided we'd do the same thing as with our son, we'd do the sequential screening and wait for those results and then decide on whether or not we'd do an amnio.  Luckily, since this counselor doesn't appear to have an 'amnio-scheduling-agenda' she was supportive of this plan and said that she'd be happy to help us in whatever we decided to do.

So that same day they drew my blood to start the sequential screening.  The counselor did warn us that mostly likely it would 'screen positive' since it takes into account the NT measurement, and since it is so large, it would very likely cause a positive result.  I told her I wanted to see what the blood results were either way.  We just got the results back and as she warned, it is 'screen positive,' for DS in particular.  However she did say that my blood matched the patterns for DS.  Now our chances are 1/10. Bummer.

Here's my problem, this time around I don't have that 'renegade' attitude like before,  Maybe it's because I'm sleep deprived and chasing after a running 14m old, or maybe it's because this pregnancy is a bit of a surprise and I've taken a while to wrap my mind around having a second and have had a hard time connecting to the baby. I don't really know.  I just don't have that 'for sure' feeling that I did with my son and with these results I'm concerned.

I've decided to schedule an amnio as soon as is possible (I'm 13w 4d right now) because, while I don't really know what we'd do with the results if they were positive, I'd like to know for sure, either way.

I'll update as the saga continues.  I'm hoping to be yet another example of the false positive nature of this business.  Wish me luck!

coco_doobster

Sep 19, 2011

To: All

I can't believe I'm here again... I am 11 weeks + 5 according to my scan today and I have come up 3mm on the NT scan. I had my bloods done just after and will now wait for the official risk assessment. I am 32 by the way. I say again because we had to go through this with my first pregnancy (when I was 29)... Back then at around the same gestation period, my son measured 5mm on the nuchal fold!!! We were living in France at the time and they didn't bother with the bloods as they were highly pessimistic about the outcome... We went for the CVS and after 4 very long hard weeks we got the all clear - We had a 1/27 chance of our baby having DS! We got the DS results after a week but the other chromosomes they tested for took a lot longer, (especially being over Christmas & New Year). Anyway I try and remind myself of this as it is a good story as everything turned out to be fine and I now have a very healthy happy 3 year old boy! Still I can't believe we are to go through all this again. I feel physically sick re-remembering all the feelings and worrys we had with my son... I am so hoping my bloods put us back in to low risk, but I've been told to expect I remain in the high risk category and seek an amniocentesis at around 15 weeks. We will not terminate our pregnancy, I do however believe it is best to be prepared as I have a couple of niece's and nephew's with heart & kidney problems and I would hope my baby has the best possible care right from the beginning if he/she were to the same or worse.

jenandjon

Sep 30, 2011

To: Everyone

Update - (original post from 08)

Age 35 - NT 2.8mm - no CVS no Amnio; gorgeous baby girl (she just has a big head... normal, just big :)

6wks now with baby #4 - will be 38 when I deliver. no testing yet, but wanted to post results from baby #3.

Hope everyone is doing well and I'm sending you thoughts of strength and support.

Jen

Milkwood

Oct 02, 2011

To: All

I turned 36 a week ago and had my NT scan done on thursday. I am 13+5 weeks pregnant. The results of the NT were 4.2mm and my bloodwork came back as normal PAPP-A but elevated Hcg. She gave me a risk of 1:2 of DS or some other genetic disroder. Trisomy 18 and 13 were fine. We opted to do a CVS straightaway and now have to wait until next tuesday for the result. This has been very hard on us but i am hoping for a positive outcome.

staceybt

Oct 04, 2011

To: all

I am 18 weeks long, at 13 weeks my blood test came back high risk for down syndrome 1/12, my NT ultrasound came back normal, I went on to do level 2 ultra sound and the result was normal too. I don't know if I should do the amniocentesis. Shouldn't 2 good ultrasounds be enough already?

kayleyx

Oct 07, 2011

To: everyone,

I was wondering if anyone could give me advive,I'm 24 I have a beautifuly healthy lil girl she's 3,I lost twins at 24 weeks in may had to have funeral for them both jus born too soon :(..now I am pregnant again 15 weeks actually,at 12 week scan they found a reading ov 8mm of the babys fluid at bak ov neck,two days later the fluid was 5.2 now went bak yesterday (2weeks after the last readin) an its 4.4,I am still frightend to death I really want a healthy baby to hold in my arms,being told may have downs heart prob or chromosome prob,I keep thinkin why!! Why me,I go back in two weeks time for another scan an possibley an amnio I'm so frightened for the amnio because ov the risks but think its the only thing that will ease my mind,if the results come back an baby has a prolem I am having a termintation :( anyone been thru simialar an went on to have a normal healthy baby?

Ally_C

Oct 07, 2011

You guys should create a new post b/c this thread is from 2008 and you're not getting the attention you deserve!

nervous245

Dec 02, 2011

To: CVS on Tuesday

Hi there
I had a high risk reading at my 12 week scan yesterday, 2.6mm and 1:16 for Trisomy 21, I am freaking out too, have never dreamt this would happen, what is the CVS like?

girlie84

Dec 10, 2011

Hi every one I got an NT of 3.3 and combined with bloods I have a 1 in 40 chance of having a baby with ds I'm 27 and going on to have the amino and will get the results jus b4 xmas I'm so worried although as a percentage its only a 2.5 chance.

nervous245

Dec 11, 2011

Hi everyone
I am also pleased to have found this site, I am worrying myself crazy and have been for 2 weeks now
My 12 week scanned showed a NT of 2.6mm, low PAPP and HCG levels, puts me at 1.163 risk of downs syndrome, I was low risk for Trisomy 18 and 13,
I went for a CVS last week but my uterus was to tilted so we try again next week,
I would love some advise, I have a healthy 13 month old son, and am praying that this bubs is 100% healthy as I dont think I could go through this again!
Thank you!

NTFU

Dec 13, 2011

NT=3.9mm.

Age 33. Was told that blood testing "would just muddy things up." Probably would have, honestly. Wasn't told any other measurements or given a # out of # odds. In general, was kind of freaked out that no one seemed to really appreciate/understand/know the probabilities I wanted them to know, particularly considering that we were thinking about a potentially risky procedure that did have such numbers. I mean really, what else should a genetic counselor really know or be able to look up? Still bothered by this.

Retested 72 hours later just before CVS; NT=2.5 to 2.9 max. Dr. said this was "normal" now, didn't think the prior number was inaccurate. With that kind of rapid change, I wondered whether there has ever been a study of the stability/normal variability of NT (measuring, say 30 random pregnant women every day throughout this four week or so window to see how much fluctuation was normal, or how many normal pregnancies would reach a 3.5mm at least once, etc.). Haven't come across that kind of study yet - could explain some of the variability in outcomes. If we'd scheduled the ultrasound on Monday instead of Friday I think we probably would have just gone along as normal. Now that's shot.

FISH results just came back normal today, QUITE relieved, but still waiting anxiously now for the rest.

I've found these posts to be very helpful. I've also found the following site to be a very good and comprehensive resource; from 2001 but probably about as up to date as necessary since it looks like most of the formative research was conducted in the 90's anyway:

http://www.sonoworld.com/Client/Fetus/html/11-14week/chapter-01/chapter-01-final.htm

I also found a table from Souka et al. (2005) reproduced a couple of other places online that is the only thing I found that breaks down NT outcomes into smaller increments than just normal vs. big. It includes a column of "alive and well" outcome by size, which I had to keep going back to, and still do. It's a larger number than other numbers would lead you to believe (like the "5% false positive rate" that is thrown about everywhere) You can find it here:

https://docs.google.com/viewer?a=v&q=cache:uQcGGB6QBkwJ:www.leedsteachinghospitals.com/sites/fetal_medicine_unit/documents/ThickenedNuchalTranslucency.pdf+&hl=en&gl=us&pid=bl&srcid=ADGEESgoorjOkIvqnicJNpdppqnOM0De-VMfTwZA8MeT0vGayBnnFMxefcImtwZS107TvLkYML284-syfGWMvaj8zilr7AVhlE7XwKx7WWtbr5smDBy5zkVgBxLzUBDlHoNVP2Eg9IWP&sig=AHIEtbS_NWhbQThpFhGPxsS0KarE5zVfkg

That page also has a second table (not cited) that outlines risk of cardiac defect by size of NT, also in increments.

Hope that is helpful to others.

Eternaloptimist612

Dec 23, 2011

To: All

At our 13 week ultrasound, our excitement and happiness turned to worry when we were told our baby's NT= 4.9. We were devastated by the news that our baby was at an increased risk for Trisomy 13, 18, 21, and heart defects. I am 26 years old, husband is 31, and this is our first pregnancy. Being 13 weeks pregnant, we were told that I was too far along for the CVS test, so we waited until I was 15 weeks pregnant to have an amniocentesis. In the meantime, my bloodwork results were calculated for the risk of chromosomal problems. Taking my age into consideration, my calculated risk for Trisomy 21 is 1:60, T13 1:124, T18 1:124. Fast forward to today, we received the FISH results from my amniocentesis and our baby tested negative for all preliminary chromosomal abnormalities (T21, T13, T18, AFP protein, and others I can't recall). These FISH results have a high accuracy rate, and it is likely that no other problems will arise when the full amnio results are in next week. I should add that my dear sister has Down's syndrome (T21), and that her chromosomal work up shows that there isn't a chromosomal disjunction in our family, and that hers is a spontaneous case. This fact also eased my worry that perhaps I had an inherited chromosomal dysfunction. I hope that our story gives you all hope, and we pray for all to have healthy babies!

kate33698

Jan 03, 2012

At our first 12 week scan we were told our baby had a high NT result at 3.88, we were given brochures to read over as they had thought our risk for chromosone abnormalities would come back high. We were devastated I could not speak in the car on the way home and my husband was in pure shock. We waited two days to hear from the midwife who delivered the horrible news that we had a 1:26 chance of the baby having chromosone abnormalities. We could not understand why this was happening to us as we are only 25 years old, extremely healthy and no history of any chormosone abnormalities in our family. We then booked in to have a CVS completed on Friday the 7th of Dec I found this uncomfortable but not painful however afterwards did have some minor cramping for the following two days, we then received the FISH results the following day which came back negative.

Two days later we received more bad news that I had an infection which caused the cells to die and not be able to culture correctly and therefore I could not be given a final result. The midwives suggested I book for an amnio as the FISH results can have false negatives/ false positives. We had the amnio completed on the 21st of Dec and had to wait over the chrissy period to obtain full results. Yesterday I received fantastic news that our baby is 100% healthy and the test was all clear.

I thought I would post our story to give others some hope as when I received all the bad news I found this forum to be extremely helpful in staying positive. I wish everyone the best of luck remember to stay positive.

mumtobeee

Jan 06, 2012

It has been reassuring to read others in the same situation as me!! I have just had my NT scan at 13 weeks which showed a measurement of 3.4. Haven't got my blood work back yet so haven't decided on amnio yet. Very stressed out at the moment just wondering what to do!!

moj110

Jan 09, 2012

To: kate33698

best of luck to you. your story gave me hope as i am sooo worry tonight. All i have been heard about my NT test was great news. 2 doctors saw it and both said that it is a perfect Nt test. both my blood tests came back to be good as well. today my doctor told me everything is good and gave me a number of 1:250 chance. I have to mention i am 41 and this is our first baby. although she said it is a good news i had a very difficult evening being emotional and worry. It is just a scary number. I was hoping for 1:700 . i guess based on my age that was a very wishful thought!! when i told my doctor about my concern she said if i wish i can have the amnio test but she does not think this is necessary at all.
What should i do?

nitjai

Jan 17, 2012

Hi Everyone!!!!!
I had my 1st trimester screening last week...Iam 28 yrs old....my screening test came out to be negative.but my NT is 3.1 mmand my risk is 1:360.now the doctors have asked me to do an amniocentesis..this is my 1st preganancy and i am new to the US.I am so scared....Has any one had a similar experience.is it safe?someone please help!!!

rollergirl411

Jan 30, 2012

To: vdvalentine

I have the same situtation as you. I was wondering what the outcome for your twins were....

rollergirl411

Jan 30, 2012

To: vdvalentine

I have the same situtation as you. I was wondering what the outcome for your twins were....

LazoMom

Jan 31, 2012

To: All

Update from my previous post in Sept 2011:

As I posted in September I had already decided to schedule an amnio for the beginning of October.  I was ready to find out and move on.  About a week before my amnio appt I had my regularly scheduled midwife appt.  Her and I talked over everything we had been through and how I was feeling about it.  She saw that I was having a lot of anxiety and frustration with the process.  She pointed out that I still had the option of doing the second blood draw for the sequential screening (even though the genetic counselor said it wouldn't make a difference at this point.)  I agreed with my midwife and I had my blood drawn that same day.

The day before my scheduled amnio I received the results from the second draw for the sequential screen and I was shocked with the results: Negative Screen.  What???  My risk of DS changed from 1/10 to 1/520.  I was so confused.  I even double checked that the results had my name on them and not someone else's.

I decided to keep my amnio appt so I could talk with the genetic counselor about the new test results.  We met with yet another counselor, an older woman with a wonderful demeanor.  She was incredibly nice and understanding of my frustration and confusion.  She shared with me that in reality she is a 'numbers' person, but that this is a 'heart' decision and she wanted to support me in whatever I needed.

She shared with us that the drastic change in odds was not necessarily common and there wasn't much research into it, so it was difficult to explain why.  She was very optimistic and said that her professional recommendation based on the numbers was that we were most likely in the clear and not in need of an amnio.

Good news, right??  I honestly felt as if I had been on a crazy roller coaster and I didn't know which way was up at this point.  My husband and I took a few minutes to talk it over and I told him that I still wanted to do the amnio, because I knew I wasn't emotionally in a position to walk away with uncertainty.  As soon as I told the counselor I would continue with the amnio anyway I felt an enormous weight lifted from me, as I knew that soon, we'd know for sure.  I felt an incredible amount of relief, just from taking the test.  I didn't stress about the results, I knew they would come and we'd deal with them once we received them.

A week later I got a call from our counselor with good news, a completely negative screen!

As many of you know, this is an UP and DOWN journey. I wish all of you the best of luck with your own journey.

raghu684

Feb 07, 2012

To: All

hi , my wife got 3.8mm in NT scan . she is 23 yrs old and our doctor has suggested to go through some tests(blood test ,triple marker ) possible DS. they mentioned that NT scan confirms 50% that the baby will be abnormal and think about termninating the pregnancy. we are so scared . please advise

wannabamommy

Feb 08, 2012

To: raghu684

I was the person who orginally posted this thread 3yrs ago. I wanted to let you know I now have 2 healthy boys. I had just turned 25 when I was going through this nightmare. Let your wife know that the odds for a healthy baby are in her favor. The 50% risk makes no sense at all. I would ask for the research behind this. I am a nurse myself and believe me I researched this alot and kept getting the same outcome. False positives are incredibly high. The NT scan by itself is basically useless, you need to combine it with the two seperate blood screenings to get a final result. It's like taking have of an exam and not finishing the rest and accepting that as your final score. Wait till you get everything back. Alone my scan said I had a "positive" screen as my son's measurement was 4.1. After all the bloodwork came back I was in the clear.....by quite a long shot too. I should mention they found things wrong in other scans down the road and I still had a perfectly healthy baby boy. Just know that in future pregnancies you don't have to do the IPS testing. I opted out of it for my second son as the stress ruined my pregnancy. I only had 2 u/s the whole pregnancy and had a midwife this time instead of an OB (they love the #'s game) and had a stress free amazing pregnancy and birth resulting in another happy, healthy baby. We will have a third in a couple years and again I will forgo the IPS testing. Good luck and remember the odds of a healthy baby are in your favor.

wannabamommy

Feb 08, 2012

To: All

Ooops make that 4yrs ago. Wow time flies.

raghu684

Feb 09, 2012

To: wannabamommy

thanks for your comment on this. we had received the blood test results ,which came out to be normal and ratio given 1:1460 (not sure what that fiure mean). now we're bit happy and relaxed and always pray for our little to be healthy. doc suggested us to go through an other NT scan in next two weeks (current week is 11) just make sure everthing's fine.
ia,m glad that i found this thread which is very informative and interactive as well. thanks to " wannabamommy" . thanks a lot

bataan_Mom

Feb 09, 2012

To: bataanMom

I am 41 years old, 14 wks pregant on my second baby. I had my NT when i was 13 weeks. The u/s guy said everything is ok and he gave printed me a complimentary picture of my baby. After the following day my family doc called me and asking me to come down to his clinic immediately and he wanted to read my NT results. I came down the following day. My doctor read the result and said that my NT results was good. But the guy who took my NT said that since my age is 41 he advice that i should consult a genital conselour. I can sense that they wanted to tell me that something wrong with my baby. Then i went to google abt this bad NT results and i came across this forum. I thank God I am release. with so many people who shared there experience about NT and DS.

yesterday we saw a genital counselor and she offered us an amnio test. she explained to me that base on the NT result everything was fine. Since my age is 41, i have 2% risk to have ds baby. and base on the NT result i was lower down to .5%. but still she said that is not accurate and Amnio is accurate.

my husband and I refuse amnio test, why? its because i can feel to myself that my baby is ok. and if my baby will have problem we will not terminate my little one in my tummy. its because we believe that God gave this to us and He is the giver of life. so no matter what happen we will take care of our baby. so why do i have to go Amnio. they will get some cell from my baby? and taking amnio test has a 1/200 of chances of miscarriage. and it will hurt my little one. never mind for amnio test.

the genital counselor told me that amnio will help us to see if everything is ok. and this will keep us not to worry and get ready for the future. again never mind, i am ready for what will happen to my baby.

my due date is aug 4. i will come back in forum and i will update you about my little one.

wannabamommy

20 hours

To: raghu684

Glad to hear everything came back ok. Those are great numbers. Why does your doctor want to check again? I say leave it alone. Why put yourselves through that again?? Wasn't once enough? Your baby is healthy and your odds are excellent. Go enjoy your prengancy and don't worry about more testing. Doctors these days just don't know when to leave well enough alone. This testing is something new so they don't really have it down to a science yet and it seems to me the false positives are so much higher than they were orignally planned to be.

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