Berkeley Parents Network: Nuchal Translucency Ultrasound

Berkeley Parents Network

Nuchal Translucency Ultrasound

Berkeley Parents Network > Advice > Pregnancy & Childbirth > Prenatal Tests > Nuchal Translucency Ultrasound

Bad test results - Nuchal Translucency

Dec 2004

The results from my nuchal translucency say that I am carrying a baby with a 1/47 chance of Down syndrome. I'm having an amnio in 3 weeks that will give me a definitive answer, but I'm so sad and I'm not sure how I will make it through the wait. Has anyone out there had this experience and do you have advice on how I can stay positive while remaining realistic? Also, has anyone had the result where they were carrying a baby with DS and how you made the decision on what to do? Any help/advice would be appreciated.
- nervous

For now, I say REALLY focus on the fact that the chance is only 2% that your baby has Downs! And, breathe. That said, the wait is torturous - and the wait for the Amnio results will add at least two more weeks. So, truly focus on the positive. Truly. Look inside yourself and find the strength to live and be happy day to day with the baby you are carrying.

I don't have advice as to what to do if your baby does have Downs. That's a very personal decision that only you and your partner can truly make toghether. But, if possible, don't play ''What if?'' now. Not yet. This is really hard, but I marvelled at my husband's ability to convince me that we'd cross that bridge when AND IF we needed to. We, in fact, did not need to cross it. (We did, however, briefly discuss what we thought our family could handle - only to see if we were on the same page - even remotely.) Best of luck to you. I know how you are suffering. Just keep focussing on the positive, the likelihood, the percentages, etc. They are on YOUR SIDE!!! Been there.

I'm so sorry to hear about your scary results. It hasn't happened to me, so I can't say that I've been there, but I just had a thought. You said the number they gave you was 1/47 chance of a child with Down Syndrome. The calculator in my head tells me that if you convert that to a percentage, it's just over a 2 percent chance. I'm not sure if that will help you or not, but sometimes the numbers and statistics that we're given are daunting if they're not explained fully. All the best to you. numbers loving mommy

When I was pregnant with my daughter I was told I had a 1/150 chance of having a child with DS. It was hard on me but earlier in the pregnancy I was told my child might have cystic fibrosis because unbeknownst to me I am a carrier. Her father thankfully was tested and was not but during that waiting period I made a decision that I would continue the pregnancy regardless of the results...which had he been positive would have been 1/2. So later when they told me I may have a child with DS, or at least was at higher risk I was already with the mind set of keeping the baby regardless and I decided not to have an amnio. I think every person needs to make their own decisions about tests and what to do with the results....it is emotionally trying especial with all the hormones of pregnancy. Good Luck. P.S. My daughter was born perfectly healthy. Hope

I am sorry you have to wait three weeks to find out what is happening. I am sure you are going to get many responses from women saying not to worry - unfortunatley I have been pregnant twice (age 37) with babies with Down syndrome (no family history). After doing research we ended both pregnancies. We were pretty clear that the reason we were testing was because we would end the pregnancies if something was found. One thing you can do is get what are called ''FISH'' results from your amnio. THese come back in a few days rather than the 10 or so for the comlete results. As far as making a decision, I would wait for your amnio. good luck

Hello, I am so sorry that the test has caused more anxiety for you. I also had a NT test and my results were also startling: I think they told me my baby had a 1 in 44 chance of having Down Syndrome. We were especially sensitive to these results because we had had two previous miscarriages, both of which were diagnosed after the fact as babies with Down Syndrome (which is probably why they died in utero- fetuses with DS often have hearts too weak to survive pregnancy). However, we decided to do CVS and our baby boy turned out to have a normal genotype. It was a huge relief, but deciding to risk the CVS and then waiting for the results was incredibly difficult.

As you’re waiting now, I guess I’d say two things. One is to remember what the numbers really mean: for every 100 women and babies with the same measurements or NT profile as you have now, 97-98 of them will *not* have DS. That’s a huge, huge majority. It’s so scary when our “odds’ move in the wrong direction from those based on age alone, but again—the numbers are less scary when you think about what they actually mean.

Second, my husband and I did a lot of thinking about what we would do if our tests came back positive for DS. Since they didn’t, we can’t say what our end decision would have been, but it was really important for us to talk openly and honestly with each other about our fears and our hopes, and what we wanted for our child and our family. And it was also important for us to decide what we really felt, not what we “should” be feeling. Amazingly enough, we became closer through the process, and I gained some (tiny) measure of peace as I waited. I also did a lot of writing/journaling about what it might mean to have a child who was not the child I was expecting, who was different in unforeseen ways, about the impact that might have on our family and our relationship, and what it might mean to have that child or not have that child, and that writing process again helped me come to terms with what I was feeling.

Best of luck to you. I’m looking at my son asleep in this stroller right now, and remembering what a hard, hard time we had, and my heart goes out to you. anonymous

I can't say don't be nervous, because that would be unrealistic. But, I do want to say that even if the test is accurate, you are still looking at only a little more than 2% chance that the baby has DS. I had a NT screen at 37 years old(my son was born when I was 38). It was a very good result - about 1/1200 for DS. Then I had the AFP, which gave me a high risk for DS (about the same as your NT). So, I went ahead with the amnio, something I was trying to avoid. All ended up fine and my baby was healthy. While I think the AFP has a higher false positive rate, remember that you are still only looking at a chance of 2%. Also, when I had my amnio I paid an extra $250 that my insurance would not cover, to get preliminary results in 48 hours. These results included the DS information. If you can afford it, I highly reccomend getting these preliminary results. It will either give you a great sense of relief, or more time to make a difficult decision. Hope this helps - my positive thoughts are with you. -Julie

I'm answering you as both, as a statistician and as a mother. Statistician's voice: The way the ''nucal test'' is typically conducted in medical practices in the US these days is an unfortunate marriage between a relative reliable and a very unprecise indicator. I can not see how these two very different things can, even half-resonably, be combined into one likelyhood:

(A) The measurement of the nucal fold taken during an ultrasound. If the measurement is above a certain threshold (2? if I remember well), this is a semi-quantitative (but relatively reliable) indicator for Down syndrome.

(B) A measurement of the concentration of a hormones released in pregnancy, and some other data. It has been observed that the concentrations of this hormon develop slightly differently when the fetus has Down syndrome (or other chromosomal problems, or spina bifida). A deviation from the typical curve can, but does not have to, be caused by Down syndrome or one of the other diseases. Unfortunately, the evaluation of the results is extremly sensitive to the estimated time of conception. The latter is estimated by the date of last period, or by ultrasound. Both methods are not precise enough to ensure the interpretation is even half reasonable.

I would encourage doctors to report their findings separately. Every woman who chooses to do this test should be reported the measurement from (A). She could then choose by herself if she wants to put any confidence in part (B) or not. In particular, if she already has reasons to belief that the date of conception (the doctors will talk about ''due date'' for the birth, actually) was well estimated. For example, if her cycle lengths are not the ''normal'' 28 days, if she's not sure about her date of last period, or if the dates based on the day of last period and the date based on ultrasound differ. I actually talked to the statistician in charge of the Californian program for screening for genetical diseases. He said that something like three days off the correct date of conception can completely falsivy the results. Doctors and their assistents usually do not even know this, and go ahead to do a useless compution. The results they report to the women are probabilities of a precision that is misleading. I would like to see the standard errors for their computations. It would not be surprised to see: ''the probability your fetus has Down's is, most likely, some number between 1/10 and 1/300''. What are you making out of this information?

Mother's voice: Before I got pregant, I could do the math for likelyhoods describe above, but I had no idea in what context this information would land, and how it could work against what we all mean or claim to want, the health of mother and baby. Prenatal diagnostic is often very stressful for pregnant women, and the communication about the findings is often upsetting. Experiencing all these worries and anxiety is not good for mother and baby to be, I'm am sure it interferes with the mental and physical health of both. Not drastically, I don't want to make anyone panic here, but I belief we should make more effort to create a feeling of safety for pregnant women rather than reducing prenatal care to a battery of tests. I don't mean to drop the tests all together, but to be careful not to let them become the focus of your pregnancy. (Good preparation for raising a child, learning to take responsibility in not loosing your optimistic attitude towards your child when one particular thing is not working out as a childrearing book describes it, or as a pre-school teacher would like it to.) How can you relax and let the baby out in the world during birth, if you feel that is has to be ''perfect'' to be accepted by its fellow human beings? And even with 50 tests, there's not garanty. For example, with a chance of 1%, the child will become schizophrenic as a young adult. Nobody is able to test for that in the womb.

On the other hand, let's be frank, many women these days do not want to carry Down syndrome babies to term. For that, they need a certainty that science, at this point, can not deliver, except by more invasive methods such that amnio, which in turn has some not very small risks itself. On top of that, the amnio brings the result a lot later, an abortion at that point is a more traumatic and more invasive procedure than earlier on. There is no simple answer to this.

All these thoughts above are the result of me going through this kind of situation myself. I was and I am going back and forth regarding my attitude to abortion based on Down syndrome, both politically and personally. and regardless on which side I am it's getting easily very emotional, and seemingly incompatable. I did eventually drop an appointment for an amnio I had already made. I decided to trust the information from part (A) more than the one from part (B). I had to chase the doctor down the hallway to get him to tell me, in a grumpy tone, the actual measurement he took, rather than the highly questionable summaries of (A), (B), and a bunch of other data.

I do not know what I would have done if I had had other results in part (A). I would not have taken the risk of doing an amnio without begin more or less certain to terminate the pregnancy in case of Down syndrome, and the answer to this I didn't find yet. Just in those days, I met a women who did abord a child based on a diagnosis of Down sysndrome in an amnio. 9 years later, she was still traumatized. I walked into the hospital as a mother of two, I walked out as a mother of one, she said. She didn't regret her step, though, she added. However, she also didn't know what she would say if she had decided to carry her baby to term. I had a discussion with a genetic councelor.

It was a bit difficult to schedule with in my doctor's practice, but it was worth every minute. The first person who actually knew what these tests are all about, willing to answer questions of any sort, very nurturing, not biased in any way, very respectful, and truly considering the individual case. The one thing I can cleary recommend to you, is to go for this consulting, with your husband (or a friend), and give yourself time for decisions and comfort. Julia

hello, wow, your post sounds familiar and my heart goes out to you. when i was pregnant with my second child last year they found bilateral cysts on her brain in an ultrasound (tied to a higher incidence of down syndrome) plus my afp came back with a down syndrome indicator. the combination of these two things left me devastated and just sucked the joy right out the pregancy. i had to wait two weeks after the afp to get the amnio (and then another week for the results) and i can't even describe how awful those weeks were. My husband and I did a great deal of praying and soul-searching in those weeks. Someone recommended to me an essay about having a DS child that you may find helpful, something about thinking you're taking a trip to Paris but instead you wind up in Holland (the implication is that there are still many things to love about Holland, but it's not what you expected on your 'vacation').

Thank G-D my daughter was totally fine. I look at her now and am so ashamed that I ever entertained the notion of ending the pregnancy, but at one point in time that was what I thought I needed to do. To this day I have no idea what I really would have done had the amnio turned out differently. Feel free to email me if you want to talk.

Scheduled for the nuchal translucency measurement ultrasound

July 2003

When I am 12 weeks pregnant I am scheduled to have the nuchal translucency measurement ultrasound (a mouthful!) Our O.B. said it is more reliable than the AFP blood tests in predicting whether your child might have Down's. I am aware with this test that there are also false positives and we may need to go ahead and do an amnio. anyway. Since it seems only recently that this early screening for Down's is more routinely recommended, I don't have any friends who have had it done. I was curious to hear more about the process and whether people think this is in fact is an effective way to screen for Down's earlier in the pregnancy. Any comments/advice much appreciated. Thanks.

I had the nuchal translucency test done for my second pregnancy because my midwife recommended it. My results came back with very low odds for downs but I had an amnio anyway because I am over 35. I had had the AFP for my first pregnancy, which came back borderline and subsequently I had an amnio. Happily, everything turned out to be fine. Personally, I was happy to get whatever potential information I could about my babies in utero so I was glad to do the nuchal translucency before I did the amnio. I don't know if the nuchal translucency has more false positives than the AFP but I prefered it over the AFP because it uses an ultrasound to measure the nape of the baby's neck which it correlates with the levels of hormones the blood test measures. The AFP just looks at the hormone levels. Also the nuchal translucency can be done earlier in the pregnancy which I think is a huge advantage. Good luck! anon

I turned 35 2 weeks before my 2nd daughter was born, and I had a Nuchal Translucency done at California Pacific Medical Center. It was a piece of cake; just like a regular ultrasound on your belly. Pain free, fairly quick, and I got an instant reading and consultation with a physician right after the test, to read the results and get an interpretation.

It measures the size of a fold of fat on the back of the baby's neck, which can be an indicator of Down's. I felt confident in the results, and chose not to get an amnio, as all my other tests were normal too. Definitely an easy test to take, and well worth the peace of mind. Good luck! Heidi

I love the nuchal translucency test. The perinatologist measures the fold of skin behind the baby's head. This measurement goes into a computer combined with your age and gives you the odds of having a child with Downs Syndrome. The first time I had this done I was pregnant through IVF, 37 years old and spotting heavily. I really didn't want to have an amnio for fear of losing a hard won pregnancy. My odds for D.S. just based on my age were 1:257 (I think, or maybe 1:157). The odds after the test were around 1:1200. The odds for having a miscarriage from an amnio were 1:300. So, the odds were 4 times greater of having a miscarriage of a perfect child than of having D.S.

The next time I was pregnant, I was 39 and chose to have an amnio. At that time, I needed to rule out everything since it would affect our entire family.

Good luck with your pregnancy. Sabrina

I am about 17 weeks pregnant and over 35 and had the nuchal translucency test done around week 12 or so. It's a very simple procedure - a blood test, which is nothing more than a prick to the finger and an ultrasound. You should know that due to it's relative newness, not all insurance companies cover it. In fact, I believe they told me that none of them cover the blood test which costs $90.

You'll get the results back in about a week and they'll tell you your odds of having a child with downs and I believe one other issue, spina bifida perhaps. The odds are for the most part based on your age - unless they see something else in the ultrasound. My understanding is that they are actually measuring the area around the neck.

My doctor also recommended that I get the AFP in addition but to check the box that states I've had CVS - so that they don't screen for the same things that the NCT did. NCT's are supposed to be far more accurate indicators than AFPs - not as many false positives. Good luck anon

I had a NTU at 20 weeks and all it consists of is an ultrasound test with measurements taken of the baby's body in various places on the technician's screen, so it is not uncomfortable at all.

I am currently 37 weeks and 36 years old and didn't want to do an amnio due to the added risks. The NTU test is 90% accurate and if you don't plan on terminating your pregnancy if the chances are great that your child may have Down Syndrome, then having an amnio may not be needed (as in our case it was a 1 and 2031 chance that our baby may have down syndrome, but we would not terminate the pregnancy if the odds were closer together, hence no amnio needed)

Also we did the AFP blood test to follow up any other genetic results as the AFP tests for other genetic things in your family that the ultrasound test does not test. Hope this is helpful and good luck with your pregnancy. Suzanna

I would highly recommend the Nuchal Translucency test for anyone whose insurance will cover it (or who can afford it). It really gave me peace of mind to find out so early that everything looked normal with the baby. The test is very non-invasive-- simply an ultrasound that measures the baby in various places (especially the neck). If you wait until the ''regular'' ultrasound (or AFP) you will be in your second trimester before finding out about birth defects. It is supposed to be 80% effective in determining birth defects versus 60% for the AFP. Good luck in making your decision. Amber in Alameda

I was also offered the nuchal translucency ultrasound for my second pregnancy. I jumped at the opportunity as it is a non-invasive procedure and it would mean that I could get an early glimpse of the baby in my tummy and hopefully assurances that all was well with the pregnancy.

Before the procedure you will likely meet with a genetic counselor who will review the reliability of this test vis a vis the other tests (AFP, etc...) They are the best equipped people to help you understand what the various tests mean, which are more reliable, etc...

It is important to remember that most prenatal tests (nuchal translucency ultrasound, AFP, regular ultrasound) are screens ^V meaning that they don^Rt provide conclusive results. They merely indicate whether or not there MIGHT be a problem.

Having had an amnio during my first pregnancy (they found something that could be interpreted as abnormal during our regular ultrasound and I wanted to know if there indeed was an issue), I thought I would probably want an amnio with my second. However, I opted to proceed with all of the non- invasive screening tests and see if I was anxious about the health of my baby or not after these tests. I did not end up having an amnio with my second.

Good Luck with Your Pregnancy

I had the Nuchal done and thought it was great. I had my first child when I was 36 and had an amnio which was scary. I then had two miscarriages. I got pregnant for the fourth time when I was 38. Having been through child birth/parenthood with the first, I was much more comfortable with the idea of having a disabled child. In addition, I wasn't about to risk the pregnancy with another amnio. I didn't do tons of research, but my understanding was that the Nuchal is widely used in Europe and that one of the reasons for the problems in the U.S. is due to lack of experience of the testers. It's completely non-evasive and ultrasounds are always interesting. I found the statistical results to be fascinating. One of the other tests I took (I can't remember which one), came back with a pretty high chance of downs. My doctor said that compared with the results of the Nuchal, she was pretty sure this other test was a false positive. Also, she said that with the nuchal, if the child did have Downs, it would be fairly mild. (Organs were the right size, etc.) anon

I just had this test. It involves a pin prick of the finger and the blood is placed on a sheet of paper and an ultrasound to measure the nuchal translucency. While the baby is in profile, they measure, via the ultrasound equipemnt/computer the nuchal translucency which is an outside layer on the profile of the face. Kind of hard to expalin, but you will see them doing it during the ultrasound. My baby was active and would not go in profile, so they had to do an invasive ultrasound as well, but most are evasive.

They will give you literature the day of that will give you all the statistics you are looking for and I remember my doctor saying that the false positives were drastically less. Good luck. jennifer

I had a nuchal translucency test at about 10 weeks and there seems to be no downside, except some uncertainty about whether the insurance will cover it (mine did, except for a $75 lab fee). However, it's important to remember that it's not a diagnostic test, but merely provides an estimate of the degree of risk for Down's. The only way to know for sure is to have the amnio. In my case, the risk was so low that we decided not to do an amnio. Good luck. Happy mom

I had this test with my twins, and would highly recommend it to anyone who wants to avoid an amnio.

I was 35 at the time, and so generally would have had an amnio automatically. However, I was distressed by the higher rate of miscarriage with an amnio and twins--1 out of 100, instead of the 1 out of 200 or 300 it is for singletons.

The neuchal fold test did not rule out the risk of downs, chromosomal or heart problems like the amnio would have, but the positive results on that test reduced the likelihood of my boys' having any of these problems dramatically, to the point where my risk was lower than a teenager's for having a baby with these problems.

Those results were good enough for me so that I didn't go on to have an amnio. I wouldn't recommend this test if you know you're the type of person who will need to know *for certain* whether or not your baby has a problem, regardless of positive results on this test. If you plan on (or think you'll end up) having an amnio anyway, this test isn't worth it-- my insurance wouldn't pay for it (but they would pay for an amnio).

I'd talk to a genetic counselor if you have questions. But do it quickly--there is a specific window for this test.

FWIW, my boys were born 5 weeks ago, and are perfect! Wendy

I had the nuchal translucency test with both of my pregnancies. The main advantage is that it is completely non-invasive and is done at an early stage of pregnancy. My understanding is that it is more reliable than AFP but like the AFP, the nuchal translucency test is just a screen and the results given are risk factors. Amnio, on the other hand, is a diagnostic test that gives you a definitive yes or no. In my case, ''good'' results from the NT test helped me decide not to undergo the amniocentisis. Margaret

I have not had this procedure but my cousin who lives in Seattle did (as part of a study)- no problems detected & the baby is healthy (she was 38 and chose not to do an amnio). I would love to hear from you where you are having the procedure and how it goes. Thank you.

I recently had a nuchal translucenty ultrasound at CPMC and would be glad to share my experience and understanding of the test with you. Feel free to contact me at my e-mail address. Abby

With all of the discussion about nuchal translucency ultrasound taking place on this forum, I felt this was a good opportunity to educate the public at large that the correct terminology is Down syndrome (big D, little s and no 's) and not Down's. Although many people (including professionals who should know better) incorrectly use Down's to shorten Down syndrome, it is flippant to refer to people with Down syndrome as having Down's. Please be assured that I am not being critical, just wanted to pass on correct information. Respectfully, An advocate for the Down syndrome community

this page was last updated: Feb 2, 2007

The opinions and statements expressed on this website are those of parents who subscribe to the Berkeley Parents Network.
Please see Disclaimer & Usage for information about using content on this website. Copyright © 1996-2013 Berkeley Parents Network