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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.
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.
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
(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
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.
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.
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
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
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 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
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
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 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
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