Nuchal Translucency Screening Test Result

23 Replies
traveler - February 21

I am 37 and pregnant for the first time. We did our nuchal translucency ultrasound at 12 wks 1 day. Our nuchal fold measured at 3.5mm. Based on age 37 only, the risk is 1/123 (0.81%). With the test result the risk jumped to 21%. At first I thought that's still 79% chance of having a child without ds, but then I converted that to a ratio and that's about 1:5. Now I'm really sad and worried again. I know worrying won't do any good for us, but I'm still really sad. We were able to schedule for a CVS tomorrow. I'll be at 12 wks 4 days. If you have any hopeful or positive stories with similar test result, please do share. I've been reading through the old threads and haven't found any threads with nuchal folds that high and had a positive outcome.


Perl - February 21

Hi traveler: I'm sorry about your results. I'm in the same boat except I'm older (39) and my risk was higher to begin with. I just got the phone call today that my baby is "high risk" for down syndrome and basically that's a screen positive. The measurments were alright but the numbers from the blood test were abnormal. The thing that upsets me is that there is only a 5% false positive. I read that the false positives increase the longer you wait. Mine was done at 11 weeks, yours at 12 weeks so yours is likely to have more false positive than mine. Let's hope that we're both in the 5% of false positives. I also find comfort in knowing that these screenings are just that: screenings and not diagnostic at all. The CVS will tell you with a lot more certainty. I've been advised to consider doing the amnio but I can't do it until 15 weeks and I'm only 13 weeks now. I'm pretty sure I won't be wanting the amnio but still have a lot of thinking and praying to do. I hope we can hear from other women who have rea__suring stories for us. If I find any stories about positive outcomes I'll let you know because I'm searching too. I wish you luck with your CVS and I will pray for you that all goes well.


traveler - February 22

Hi Perl, I am praying for you and your baby. I know God is bigger than the numbers. Yes, let's both try and stay hopeful even though it's hard.


lovemy3 - February 23

Hi there. Big hugs and don't despair!! I just had a baby girl born on Jan 31st named Grace who is perfectly healthy with no DS. At 16 weeks my final results came back at 1/46 overall for DS. It was a combo of 12 week testing like yours and 16 week bloodwork. We were really upset, but reading about all the false positives and having a 20 week anatomy scan that looked good, we decided not to do further testing. Amnios no matter how safe they are still have a miscarriage rate and CVS is even higher. I am honestly the biggest worrier on the planet so this was very hard for me, but we decided to wait till delivery and not put baby at risk, so a VERY LONG 20 weeks later, baby Grace was born, looked perfect and then the blood test done using her cord blood confirmed a week later that she did not have ds. Just perfect and a false test. Studies show that women who have a history of placental issues, such as preeclampsia for example often have false postive screenings. Its to do with a placental issue and not a ds issue. Unfortunately at this point in time the plaectal test is the same test used to detect DS and spina bifida. Have your scan done at a high risk fetal medicine clinic as they will do the best job at checking the anatomy of your baby. Honestly, don't take too much stock in this test. I have just finished living through it, chances are all will be perfect. Like Perl said, God doesn't do stats. Over my journey in waiting out this test over 20 weeks, i met lots of women with 1/4, 1/20 etc and their babies were fine as well. The women I met that had babies with DS, had perfect negative scores! I would be more interested in making sure the placenta is working well and not a ds issue at all. I know its horrible and scary and no matter how much rea__suranc people give you from their past expereinces, its so hard, cuz you think, well maybe this time I am the one it will happen to. Chances are its not. In my waiting I absolutely learned that children with DS are really awesome. I connected with the DS society and learned a ton of info. I came away with diffeent pereptions and knew that it wouldn't have been the end oof the world. They help releived many fears I had. BUT cahnces are all will be just fine with your baby. Think hard about what will be accomplished by doing further testing? Will you do anything abot the results? Would you abort? If not, its just for peace of mind and preparedness. After researching I felt it wold be worse for me to know ahead of time, and all that needed to be done could be done at birth, so we declined the risk, but only you will know what works for you and your husband. Everyone is different. Good luck and I am praying for peace and wisdom for you. xox


lovemy3 - February 23

P.S I was 37 yrs old at the time and am now 38.


Perl - February 23

Thank you lovemy3, your words are very rea__suring. Thank you Traveler for your prayers--they mean a lot to me. I'm doing the same for you.***Lovemy3 if you're still reading: I'm curious now about the placenta issue because my research has just started and I've not come across that yet. I had preeclampsia with my first pregnancy when I was 37 going on 38 and am at risk for getting preeclampsia again so I'm curious to learn more. I'll have to google that but if you happen to remember which website or where you read that info could you please let me know where I should start looking? Also, were you seeing a high risk doctor your whole pregnancy or just for the testing and level 2 ultrasounds? Thanks again for your encouragement and congratulations to you on your newborn baby girl.


lovemy3 - February 23

Hi Perl, Google "placental clinics". You'll see that the research shows that there is a direct link between preeclampsia and poorly functioning placentas. At 12 weeks and 16 weeks you should take a blood test that includes PAPP-A testing. Thats placental function. It unfortunately includes all the genetic testing, thats how I got in the "worry boat". Then at 16-20 weeks you should have your uterine artery function test done via scan and they will check the placental function via scan. They can see the blood flow, clots etc. IAtfter my first daughter was born before I got pregnant with my second child I went for a consult and found my high risk dr, and from that moment on have seen him. He is a fetal medicine dr and his specialty is placentas and preeclampsia. Google it and you'll find info as well. I tried to google it and saw info as well. i still lurk around here, i hope all goes well. xox


lovemy3 - February 23

Perl...Gosh, I just noticed your post...I had only read Travelers". Any bet with your history of preeclampsia that is qhat is throwing your numbers JUST LIKE MINE. You need to see what your PAPPA test number was. it would have been done in the same test. I bet its borderline or not good. These tests could be indication of preeclampsia going to surface again for you. There are many studies right now. My placental function turned around on its on around 25 weeks this time, I would strongly recommend that you at least have 1 referal appt with a fetal medicine/,high risk dr. I know you said its far, like my dr was 1-2 hr drive every Tuesday for 36 weeks but so worth it. try and even meet with him once around 20 weeks, so he can do your anatomy scan instead of a lower risk place. the fetal med dr will be way better at checking babies heart and looking for other ds markers. he will also do the placental scan and uterine artery scan himself. All that takes place beetween 16-20 weeks. Ask your dr for a referal. are you in the US?


lovemy3 - February 23

perl..i added on another post on your regular thread with carly and kristen. i'll check back over there. traveler...hope you are doing ok with your wait for your cvs results, post when you can.


traveler - February 23

Thank you Perl and lovemy3 for your support and prayers. I really cherish them. Thank you lovemy3 for sharing your story. I feel more encouraged and hopeful. At this point every hopeful info helps. The cvs procedure went well as far we can tell. I'll just continue to rest this weekend. We expedited the results and will know as soon as Monday. I hope to share good news then. For us, we wanted to know since we already started going down this path. Of course, we were completely unprepared emotionally and was shocked with the first step of genetic testing. I want to be emotionally prepared. Also I knew the physician performing the procedure was very experienced and had very very low miscarriage risk, so I felt at peace and comfortable with going ahead with the cvs. Our genetic counselor also told us that the 21% risk is based on a NT measurement from 3.5 - 4.4. Since we are at 3.5, the risk was lower than 21%. How much lower? They don't know, but at least it's lower, so we were very thankful to receive that additional piece of information. I'm okay with the waiting, actually a part of me is scared to pick up the phone on Monday. We are praying the result will be negative, but also praying to accept, if the news is otherwise. Perl, I will continue to pray for you and your baby. I'm so thankful to have found this forum and moms who understand what we are going through.


lovemy3 - February 23

traveler...thats great the procedure all went well. rest and take it easy and try not too worry. i'm sure it'll be good news. you will manage to pick up when the phone rings. i kept playing the scenerio through my head about when they lifted her out at my c-section and i had to look at her for the first time and whether or not i wold see she had ds. But when they lifted her out I just looked and wasn't scared, so you'll have the strength and you'll say "hello" and it'll go from there. Stay strong, xo


cromwell - February 25

Hi everyone. This post is timely because I need to decide on the amnio by tomorrow. I had a normal nuchal translucency although he did not measure it, just said it looked fine. Also, had the triple screen and it was normal. Now I am wondering if I go with that or do the amnio just to rea__sure myself so I don't worry about it? I heard a DS child can look the same on the u/s, so that is not diagnostic. But then, a lot of people on here say that the level II is diagnostic. Thanks.


traveler - February 25

Praise God! Our cvs result came back today as negative! It was negative for Trisomy 21 (Down syndrome), 18, and 13. Thank you Perl and lovemy3 for your prayers. So many friends and family members were praying for us the past few days. The prayers really carried us through. I will continue to pray for you Perl. cromwell, we decided to the test because our baby measured high-risk. If the measurement came back normal, we probably wouldn't have done a diagnostic test. I guess some questions you might want to evaluate are: if I had a m/c in the past, would I be able to accept another m/c; what's my physician's risk rate in causing a m/c? are there other screening test I can take instead of invasive diagnostics? For example, my physician is scheduling a fetal echo even though my cvs came back negative. I think in the end, it's a family decision. Hope that helps.


lovemy3 - February 25

Congrats traveler thats awesome news!!! rest easy now and enjoy!!


Perl - February 26

Traveler: Praise God is right!!! Congratulations to you, you must feel sooo relieved and now you can just enjoy the rest of your pregnancy without worrying. I'm very happy for you!! Did they give you any clues or insight as to how the test could be so off as to return with a 1:5 odds? Did they mess up on their measurements? Whatever the reason, I'm soo happy for you! **** I got a phone call from the genetic counselor yesterday asking me what I wanted to do next so she could schedule it. I told her I was about 90% sure that I did NOT want the amnio but just to give me an AFP for neural tube defects/spina bifida. So the AFP is next for me and then she also suggested that the perinatologist do my Level 2 ultrasound at 20 weeks so they can check the baby for markers of down syndrome (enlarged thigh bone, fluid in kidney and brightness in the bowel, etc.) At the end of the ultrasound then I can finally decide whether or not to do the amnio. I'm sure my answer will be no unless they find something is drastically wrong so we can know for sure what the problem is. Cromwell: you must be farther along in your pregnancy than Traveler and I are. I agree with what Traveler said, I'm allowing the ultrasounds and non invasive screenings to guide me through this. I had a miscarriage before and simply would not be able to live through that kind of pain again even if there is only less than a 1% chance. It's still too much risk for me personally but like Traveler said it's a very personal choice. If it appears that DS or trisomy 13 or 18 may be at risk and you have to know what the problem is exactly to prepare then amnio may be a good option. Personally, my numbers were just below normal for DS only (1:238 where 1:291 is normal) and the nuchal translucency reading was 1.0 mm (normal) so it seemed like the risk of m/c outweighed the risk of DS. Even though I have doubts I'm just hoping for the best. Good luck with your decision and with the amnio if you decide to go through with it.


traveler - March 10

Update, we had our first fetal echocardiogram a couple of weeks ago. The physician said the heart looked good and everything looked normal. We will have a follow-up fetal echo at 19 weeks. I asked the genetic counselor why the increased NT reading. She was not sure. She said sometimes babies just have extra fluid at the back of their neck. I'll ask the physician at my next fetal echo, but I'm guessing they probably won't know. I'll also do the AFP for only a spina bifidal screening at 18 weeks. The road ahead seems smoother:). I'm still praying for you Perl.


Perl - March 12

Traveler: thank you for your prayers they do mean a lot to me. Hey, that's a fantastic report that your baby's heart looks great. I wonder if they didn't just mis-measure and give you a NT reading that was mistakenly too high. I've watched them when they are dragging their little computer arrows on screen during the ultrasound and they have to squint figure out where to stop. It could be just a technical error. I had my first appointment with my new ob's office yesterday. I didn't actually get to meet the ob/gyn just his nurse who took all my medical history and gave me a bunch of paperwork and sent me to the lab. I had to re-do all of my bloodwork (except first trimester screening and glucose test) which is fine with me. I also did the AFP test yesterday and expect to get a call any day now to schedule my next Level 2 ultrasound. I can't wait to see my baby again. I'm also anxious since they will look for markers of Down syndrome (thigh bone, heart and other organs). I'd also like to find out what s_x he/she is. Not that it matters to me but it would be helpful so I can either pull out newborn baby clothes from storage or go buy new baby girl stuff and also know how to decorate the nursery. Are you going to find out your baby's gender or do you already know?



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