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Nuchal Translucency Ultrasound

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Should we get an mnio after passing Nuchal Ultrasound?

Nov 2010

Hi all, Last year I had a miscarriage (no heartbeat at 8 week confirmation appointment; chromosomal analysis of fetus after D&C showed two extra chromosomes -- chromosome 15 which caused the baby to not be viable and chromosome 21 -- Downs). Now I am 41 and 12 weeks pregnant. We had our Nuchal ultrasound today. Combined with the blood test, we got a 'pass' and a ratio of 1 chance in 1900 of the baby having the Down's. However from reading the paperwork, the blood test and Nuchal ultrasound only detects 80% of Down's babies. Because of the miscarriage last year, I am thinking of having an amnio at 16 weeks. Anyone decide to do this? Or anyone find out from an 18 weeek ultrasound that their baby had other markers indicative of Downs? The nurse practioner at our OBs office told us that recent analysis by some official obstetrics group/board--forgot what she said--puts the risk of miscarriage from an amnio (not CVS) at 1 in 1600. Thank you all! anon

Hi, this is a tough decision but your NT numbers are actually pretty good. For my first pregnancy at 39, I had good NT numbers and did not have amnio. However, for my second at 41, I just went right to the amnio. I was nervous, but I think that it's better peace of mind. The worst thing tho, is that if there is something wrong, making a decision to terminate would be extremely tough so you need to consider that. I do believe that amnio miscarriage risks are slim, especially if your testing site has a lot of experience doing them. The test was a lot less of an issue once I had it. In my mind, waiting for it was much worse. If I were you, I'd get amnio. anon
Why don't you have your 2nd T blood drawn right at 15 weeks - you'll have the results of an integrated risk assessment (1st T + Nuchal + 2nd T blood draw) within the week, and the detection rate for Down syndrome and Trisomy 18 is much better than for the 1st T + NT alone. Then you can make your decision about the amnio with better information. More information is better..
can't relate to your situation exactly with your prior history but I can tell you at age 39 I got a positive result on my nuchal test and still skipped the amnio (basically my risk per the positive nuchal result was about the same risk as my risk of a miscarriage with an amnio so I figured why double my risk). depends on how much certainty you need but if you want certainty then do the amnio and take the risk. 1 in 1900 odds are very low for a 41 year old - your age related risk is probably in the 1/200 range (if you did no testing that would be your best information). Not to scare you but to give you some perspective there are so many things that can go wrong that you have way higher odds than 1 in 1900 on (autism, stillbirth etc etc) but because you can't test for these now they tend not to get the same attention that something you can test on. I'm a numbers person so ultimately I was really able to look at the statistics for what they were and in the grand scheme of things was able to roll with the risk just like all the other risks we face in life, that we don't always get a chance to test for. But I also knew I probably wouldn't abort so for me it was just swapping risk for knowledge. BTW my daughter was born with no issues. Good luck with your decision. a numbers person
The first trimester screen (nuchal translucency ultrasound plus blood test) does not ''detect'' Down Syndrome at all. It is a screening test, not a diagnostic test. It only tells you your RISK for having a baby with Down Syndrome. In order to know for sure whether your baby has Down Syndrome, you must do a CVS or an amnio. Most people base this decision on how strongly they feel the need to know, what they would do with that information (i.e. terminate or continue a pregnancy), and how willing they are to subject themselves to the (very small) risks associated with CVS or amnio. Given your risk profile from the nuchal translucency ultrasound, it is very unlikely that your child has Down Syndrome, but it is not impossible. The only way to know for sure is to have CVS or amnio.

I had my children at ages 39 and 43. I knew that I wanted to do diagnostic testing (CVS or amnio) because I wanted to know with 100% certainty whether there were any chromosomal abnormalities. I did the nuchal translucency test determine which test (CVS or amnio) to do. If my nuchal results were not reassuring (i.e. put me at high risk of having a baby with Down Syndrome), I planned to do a CVS. My reasoning was that CVS can be done much earlier than amnio, and I preferred having the information sooner rather than later since my choice would have been to terminate the pregnancy. If the nuchal test was reassuring (i.e. put me at low risk to have a baby with Down Syndrome), I planned to do the amnio, which is done a bit later in pregnancy. As it turned out, my risk was quite low, I did the amnios, and both kids were fine.

Some people might just skip the nuchal test if they already know they want diagnostic testing. In my case and for personal reasons, I preferred amnio to CVS, so I used the nuchal to see whether my risk profile was really bad -- in which case I would have gone ahead and done CVS.

Be aware that unfortunately there is no diagnostic test that detects every possible thing that could go wrong with your baby. Even CVS and amnio are limited in what they can detect. You might want to have an appointment with a genetic counselor who can explain more fully to you what this all means and help you think through your choices.

As far as the risks associated with amnio and CVS, what you need to know is the complications rate for the MD who is actually doing YOUR amnio or CVS. Nationwide rates are much less important than YOUR provider's rate of complications. That's what you want to know. Good luck to you!

After the experience you had lasst year, it is understandable that you are really, really anxious about this baby. But given the tests you have undergone, it also sounds like this baby is healthy. And the odds are probably higher than 80 percent, since you are combining the odds from two different procedures. Any reason why you haven't opted for CVS if you want an early amnio?

When I was obsessing about this option myself, I asked myself a very important question: what would I actually DO about the facts, assuming a result that showed chromosomal abnormality? Would I have an abortion at 16 or 18 weeks? What difference would knowing the results practically make in my life and subsequent decisions? In my case, I was resolved that I would not have an abortion, even if the baby had Downs, which simplified the decision to, do I want to know or don't I? Would it be better to know in order to prepare for caring for a special needs infant? In the end, needing to know if I had a special needs infant did not prove a strong-enough motivator, because I wanted to focus on the love that I was developing for my developing baby, o matter what potential deformity.

Of course, I realize this is not necessarily the path you will take in your decision making process, and no journey of this sort is a one-size-fits-all, but I thought that it might be helpful to simply go through some of the questions. Good luck to you! Anon

With my ''pregnancy age'' at 38 (I turned 38 halfway into my pregnancy), I had the exact same debate. It was such a difficult decision.

I had the nuchal and got excellent results. So looking at it that way, my odds of having a chromosomal issue with the baby were less than my odds of having a miscarriage due to an amnio or CVS.

However, the test is only 80% accurate. So that sort of skews the odds.

In the end, I decided that I'd rather live with a baby that would possibly have Down's Syndrome than live with myself if I miscarried due to a test trying to make everything perfect. No test gives you autism alerts, and of course any child can have an accident or illness at some point that makes him/her less than ''perfect.''

I also just had a gut feeling that this baby was going to be A-OK (and she is). I though also had a medical scare that ended up in a series of ultrasounds, so I figured that if something were wrong they'd have found it on one of those ultrasounds.

Anecdotally, I know of one couple who got great nuchal results and had a child with Down's, and know two who had horrible nuchal results, got the CVS and the babies were fine. I however also know of 2 couples who lost babies due to an amnio.

The odds of miscarriage on amnio and CVS were just high enough that I felt like my odds of having an OK baby were better without them, but at the same time I certainly had my moments during the pregnancy where I really worried that I was in for a devastating surprise.

I don't know if this helps other than letting you know that you're not alone in agonizing over this decision. If I have another child (which would probably put me around 40) I'm not convinced that I wouldn't do a CVS early on even with good nuchal results. It's still a hard decision, even theoretically. new mom at 38

Hi, I also passed the nuchal ultrasound and the lab tests, but the possibilities were 1/200, so I decided to have an amnio at 17 weeks. I did it at Kaiser and they did a wonderful job. The percentage of miscarriages after the amnio is going down, and they say it is lower than statistics say, because some of those would have ended on miscarriage anyway, with or without an amnio. What I can say is that after you do it and you know everything is OK, you relax and enjoy the pregnancy a lot more. Good luck with whatever you decide!!!
Risk of miscarriage from amniocentesis is 1/300 to 1/500 or POSSIBLY less with more experienced practictioners. That means that at least 1 in 500 women loose their child because of having amnio - considering the odds of downs syndrome according to your tests, how likely is it that your child is entirely healthy? What will your course of action be if your child is positive? Is knowing for certain worth the risk of loosing a healthy child? Or the risk of loosing a disabled child? How will you feel if you loose your child after having the amnio? What is the risk that your child has downs syndrome in comparison to the risk of having an amnio? What are the odds in winning the lottery? What are the odds in having a serious side effect from a vaccination? I don't know what the best answer is, but it is important that you make an informed decision and realize what the actual odds are in these situations. People tend to make decisions based on their determination to do what they want to do, not on an actual understanding of the risks and benefits of their actions. Only later do they justify it with vague references to statistics or ''studies''. Not that this is necessarily a bad thing, there is a reason why we have instincts. If you do choose to go with your instincts, just make sure you are listening to your instincts and don't convince yourself it is okay against your better judgement just because these responses and your doctor have led you to misunderstand the actual risks involved. anonymous
Apparently there is no longer much risk of miscarriage after amnio, if any. There have been recent studies that show that you are no more likely to miscarry after an amnio than if you didn't get an amnio at all. So don't base your decision on decades-old numbers like 1 in 200 or 1 in 500. Here is one article about this that I found by googling, which quotes the findings in a 2006 study: "There was no significant difference in loss rates between those undergoing amniocentesis and those not undergoing amniocentesis." - googler
The NT ultrasound plus the two blood tests are a little more than 90% accurate. Yes new stats are out that there are less miscarriages but amnio is still not a procedure to take lightly. There is risk they could puncture and injure the baby while inserting the needle during the procedure. Yes the procedure is less risky than when dr's first started performing the procedure but there is still a risk. You are also left with a hole in your womb after the procedure. You are not allowed to move or lift anything for at least three days. If you do not strictly adhere to this your risk goes up. Remember having a baby is a business so weigh your options very carefully. Nothing invasive is safe when you are the one in 1200. I'm not saying dont have the amnio I'm just saying don't take it lightly no matter what the stats. Really watch ''the business of being born'' it will make you very wary and hopefully proactive through your pregnancy and delivery. Momma bear

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 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.

Amnio or Not after Positive Nuchal?

June 2004

I am 35 and had a nuchal translucency US which much to my surprise has come back ''positive,'' that is my age-related risk for Down's is 1/215 and the test results (size of nuchal fold and blood test) show my individual risk is 1/213 !! It is a ''positive'' test because it did not come back as showing a decreased risk for Down's (ie 1/400 etc). These results show I have a .5% chance of a Down's baby and a 99.5% chance of a normal baby. The risk of miscarriage with an amnio done at 16 weeks is .5%...I am not a gambling woman, and playing out the odds is driving me crazy. What to do? The other thing is that I am unfortunately not the type of person who would be fine with having a baby with Down's, but almost equally, I would be devastated to lose this pregnancy to an amnio that wasn't needed!! anon

I am 36 years old and I had an amnio done about a year ago. I had some hesitation about it. There seems to be a huge deal made about the risks. There is a half hour ''counseling'' before you acutally get the amnio. And, I must say in all honesty....once the whole thing was over I just did not know what all the fuss was about. The people that do the test do it all day long and are totally professional. You see your baby for the entire half hour on the ultrasound monitor. The needle does not hurt. And, if you follow the directions and stay mellow for the next three days everything should be fine. It is like a pin prick in a balloon. If you don't make the hole will heal itself! Good luck! I had a positive experience! christine
I had an amnio or CVS for both of my kids (I was over 35 for both) and they both turned out well and I gave birth to two healthy babies. I recommend you find a doctor who does many amnios (statistics show that doctors who perform a procedure often, say several times a week at a minimum, have fewer complications) and go for it! It did wonders for my peace of mind. I couldn't imagine going through an entire pregnancy wondering if my child had a birth defect, especially given my overactive and fearful imagination during pregnancy. Good luck and congratulations on your pregnancy. mother of two
I have had 2 at 36 and one at 39 with no problems or complications. I have many friends who have also had them with no problems. The important thing is to go to someone who specializes in this procedure. The first amnio I had was done by a practice which had (I think) a 1/500 risk of miscarriage (the average risk is 1/200...0.5% as you said). His name is Dr. McCallum and he practices on the peninsula and the east bay ( Good Luck cecilia
I feel for you. I too was not the kind of woman that would be fine with a downs baby. we elected to have a CVS (with each pregnancy) so that we could be assured early on that everything was going to be o.k. I did a lot of research on who was the best at CVS testing, and ound that Dr. James Goldberg at California Pacific Med. Center (also affiliated with UCSF) was the best and had a much lower rate of miscarriage. You might try his practice to see if they do amnio - if that is not an option I would find out what the odds of miscarriage are at the practice where you would be having the procedure. It sounds like you are the kind of person that should go ahead with the amnio, just make sure you are inthe best possible hands. I know that amnios can cause miscarriage, but I have never known anyone who has had an amnio induced miscarriage - and almost all of my friends and I are 35+ moms - good luck. anon
In your circumstances I would skip the amnio. At 99.5% your chance of having a child without Downs Syndrome is very very good, and the chance of test-related miscarriage is greater.

There are other non-invasive tests your doctor can do that would help you get a feel for whether your baby has other ''soft markers'' for Downs. You may also want to do Internet research, or contact a message board like those on Parents or (These are valuable resources anyway!). Good luck, I think you're still in the range of your stress is more of a problem than the statistics. Heather

sounds like you need an amnio if you know you don't want to raise a Down Syndrome child. The 1/200 chance sounds scary, but you'll feel much better once you do it. It's not that bad, and I also understand that the risk here in the bay area tends to be even lower, because the doctors are really good. And from what you're saying, it sounds like you could more easily tolerate a risk of losing the pregnancy than the risk of delivering a Downs baby. Knowing how clearly I and my partner couldn't do that made that decision easier for me. anon
You will probably get some pretty strong responses to your email. I have ended pregnancies due to amnio results telling us we were having a baby with down syndrome. I have also found docs (CPMC in SF and at UCSF) where the risk of miscarriage is 1/400. Some of the post-amnio miscarriages that happen are babies that have chromosonal issues (such as down syndrome) that would have ended even if there had been no amnio. A 1/213 chance is not really a ''positive'' - I know women who have truly come close to having a positive on nuchal screen (1/5) that later was confirmed by amnio. If you are clear about not wanting a baby with down syndrome or any other chromosonal abnormality, I would reccomend an amnio. Good luck
I don't know if this will help you, but . . . when I was pregnant (I was 36 then), I knew I wanted an amnio, but was confused about whether to have the preliminary testing, precisely because of the conundrum you are experiencing now. I dealt with the amnio question by asking my doctor: ''If I were your daughter, what would you tell me to do?'' He said, ''Skip the preliminary testing and just get the amnio.'' Which is what I did and what I will do for my next pregnancy (God willing there is another), when I will be 38 or 39. My feeling was that I needed the certainty of the amnio results. I wasn't at all sure, either, that I would terminate a Down Syndrome baby or a baby with spina bifida or whatever, but I felt that having the knowledge before the birth was worth the minimal risk presented by the amnio. (Of course, you can use the statistics to support any argument that works for you and everyone will tell you that they know someone who miscarried following an amnio.) On the other hand, my best friend, who is pregnant with her second baby at 41, has always refused the amnio and can live with the results of her preliminary testing. Good luck with your decision; it's not an easy one! Happy with my amnio
I had an amnio when I was pregnant with my first baby at 35 (and a CVS with the second when I was 38). I had no complications with either procedure and gave birth to big, healthy babies. We decided to go ahead witht he amnio because I strongly felt the need to be prepared if there was something 'wrong'. Statistically, there was more of a chance of there being something wrong with the pregnancy than of the amnio causing a miscarriage. I also think that the stats you get regarding anmio risks are national stats -- that if you go to a reputable clinic with loads of experience, your chances are much better. So, if you decide to move ahead with the procedure, make sure you're going to a really 'good' place (and fight with your insurance if they won't cover you going somewhere your OB recommends). Ask how many procedures they do a year, how experience the doctor is who will be doing the procedure, etc. I had my amnio at AltaBates imaging, and the CVS at UCSF. Good luck to you!
Hi, I was in a similar situation last fall. I don't remember the exact details but my age alone gave me a .5% chance of Down's Syndrom, however my NT test came back with better odds than those for my age (36 at the time). Given that the chance of miscarriage from Amnio was .5%, the NT had improved my age-based genetic outlook, and my husband and I did not have clear cut feelings about whether or not we would terminate if the Amnio revealed that I was carrying a baby w/Down's Syndrom, we decided not to have the Amnio. I think it all comes down to what action you would take if the Amnio were positive for Down's Syndrom. It sounds like you would terminate. Also, remember that the .5% chance of miscarriage from the Amnio is a national average (or something like that, I believe) and the statistics are better than that at UCSF or CPMC. I didn't ''know'' that I would terminate, so I didn't have the test. I never regretted that decision for a second. Go with your gut on this.
At 35 I too struggled over whether to have an amnio, and was terrified of having it induce a miscarriage because I had had 2 miscarriages already. After our in-depth discussion with the genetics counselor, it was clear that the risk of something being ''wrong'' was higher than the risk of miscarriage. Therefore, the amnio made sense. Where did you get the information that 1 in 200 amnios results in miscarriage? At least at Alta Bates Perintal center, the rate is I think 1 in 400. So I would find out what the rates are at the center where you might have the amnio. If it were me, I would have the amnio. Also, it is overwhelmingly likely that everything will be fine with your baby and then you can be relieved. anon
I had an amnio (by choice-I had just turned 40) recently and it is really no big deal. I had mine at the same point in my pregnancy too. The hardest part is waiting to hear the results. In my case, I heard the results after 10 days and everything was fine.The odds are in your favor that nothing will happen. Try to relax and have faith. You will have access to more information about your baby and this may give you even greater peace of mind. Good Luck!
I am sorry that you have have to make this tough decision. It's not easy. I had to make this decision, too. But, I had taken the AFP test which came back with a 1/180 risk (or .05%) of my child having Trisomy 21. I decided to do the Amnio (even if the risk of miscarriage was also 0.05%. I know it seems like such a low risk (only .05%), but my amnio came back positive for Trisomy 21, too. Though the AFP has a lot of ''false positives,'' it can pick up actual positives for even the lowest risks. Ultimately, it's your decision. I would consider amnio record of the hosptial at which you plan to deliver. Often times, the hospital's record is lower than the average risk of miscarriage caused by an amnio. Be gentle with yourself and do what you need to do. - another woman who understands
Well, this is a huge decision. I had my daughter at 40 and did decide to do the amnio, however, it was one of the most traumatic parts of my pregnancy. Ranking up there with my c- section, even. I felt really nervous about the risk of miscarraige as well, and it was truly scary for me to have the needle in my uterus. All of that aside, it was truly relieving to know that she was ok for the diseases that the amnio tests for. My advice is to do it because you said that you do not want to have a baby with downs and because you came up positive on the nuchal fold test. That is what I would do.The other thing is to get it done by a dr. who has done like 10 million amnio's. That helped my stress to know that he had done tons. Good luck and I'm sure that it will be fine, but I won't lie cause it scared me silly, Annie
I had an amniocentesis with my son, at the age of 37. I don't think the results would have affected my decision about the pregnancy, whether to continue it or not, but the knowledge that everything was OK genetically was reassuring. When my son was born, he had a facial birthmark (port wine stain)that enlisted the services of a pediatric neurologist, pediatric opthamologist and pediatric dermatolgist. So even having the amnio, other things could go on with your child that can't be foreseen. If it would be reassuring to you, I would recommend the amniocentesis.
I had a similar experience with my pregnancy last year. I was 34 at the time. I had the nuchal trans., but my ob said that my risk of having a Down's baby was the same as my risk of having a miscarriage w/amnio..this was based on the blood work. I chose to have the amnio. The procedure went fine, and I got the results quickly. I was thrilled to know that my baby was fine. I am a worrier, so I would have spent the rest of my pregnancy in total anxiety had I not known. Having a Down's baby would be too much for us as my husband is older than I am, and we would have no one to look after the child when we got older and passed away. I have 2 friends (38 & 41) who each had amnios w/their pregnancies. They are fine, and so are their babies. Good luck to you. needed to know
I also got pregnant at 35 and also had a NT that came back with increased odds for a genetic problem. My OB's response was that the NT test makes more people panic and get amnios than need to, but my mom's sister had downs and I consequently had very strong feelings about it. Even though I was worried about the risks, I felt that it would be worth it. I had my amnio at the CPMC genetic clinic in SF (the doctors there are VERY good at what they do and their success rate is higher than the national average). The results showed that our little guy had another kind of genetic problem; he had an extra X. We then had to make the hardest decision of our lives (luckily the Bay Area has a great support network). recommendation is first, know that the odds are still in your favor for everything to be OK. Then, if knowing that your fetus has a genetic problem would change your future actions (i.e. terminate or not, get special treatment or not), I definitely recommend getting an amnio. If knowing would NOT change your future actions, then it's probably not worth the risk of an amnio. *We did get pregnant again soon after and went straight for the CVS instead of the NT & amnio route (and plan to do the CVS again for our next pregnancy) and now have a happy little one.* anon
Of course no one can tell you what choice to make, but I did notice from your post that you say that you would be almost or nearly as bothered by losing the baby to miscarriage as by having a DS baby. To me that was somewhat telling. And I don't mean that in any kind of judgmental way. I would have the amnio myself because I would want to know if the baby had DS. Also, .5% is a very small risk. I have lots of friend who have had amnios with no problem whatsoever. Anyway, I think you should follow your heart, which YOU know best, but the way I read your post, you seem to be leaning toward the amnio for peace of mind. Good luck with your decision and hope you have a healthy baby in there! anonymous
I had a 1:61 for Down Syndrome on the AFP (different from my 1:300 age-related risk). THere were also 2 soft markers on the 19 week u/s. After much hard debate, we decided on the amnio (even though I wouldn't terminate based on the results- also a tough decision- AND we were terrified of losing the baby- lost one at 15 weeks last year). Our miscarriage risk was 1:400 or so for my gestational age and the Dr. performing the amnio. Well, the results came back totally normal today!. Am I happy I had the amnio? Sort of. It's great not to worry about it anymore- but I feel silly because the risk of having a baby with a problem was so slim amyway.

Personally, with a 1:over 200 risk of Downs and that or more for miscarriage, I wouldn't do it. But that's me. It's such a hard choice. You have the answer inside. Kim

i don't know if my long, convoluted story got posted, but i just recently went through what you did, with my risk being at 1% - twice the normal for my age (1/190). i'm kind of irritated i took it, but in short, i think it did offer peace of mind for my husband. philosophically, i don't know if i did the right thing by taking a chance on losing my baby. it's such a hard decision. find out how often the center you'll be going to does amnios. this can dramatically decrease the risks of complications. with your risks given, they are so low, and essentially equal to the population, i fully support you not taking the amnio. i think my husband played a large role in my decision - i think he was a little more anxious than me. feel free to e-mail me. jenny
In this case I think the risk factor of miscarage is secondary. I think that your position on not being comfortable with having a Down's Syndrom child dictates that you MUST have the amnio early since I'm assuming that you would then want to terminate the pregnancy if it's positive. The longer you wait the harder it is to do that, both medically and spiritually. For our first child we didn't have the amnio since we decided that we would accept a Down's syndrom child is that's what happened. But for our second child we did do the amnio early so we could take action early since we had our first child to consider as well as ourselves. Good luck anon
I thought a lot myself about these questions (I was also 35); The basic issue is your tolerance for risk. You have to weigh the risk of losing a fetus due to the amnio (which is low) versus the risk of carrying a fetus to term that might have Downs or another chromosomal problem that could be detected ahead of time. The decision also depends on how difficult it was for you to get pregnant, and an unknown risk of the grief of a pregnancy loss. HOWEVER, you have to weigh these possible negative outcomes, which are TEMPORARY (for the most part), compared to the risk for you of having to care for a child with Downs for the rest of your life. You mentioned that you didn't think you could handle this. Of course we end up handling whatever we are handed, but the risks of miscarriage/amnio, etc., are short-term, and the ''risk'' of having a child with significant impairments has a much longer-term impact. I think you're brave to acknowledge your own comfort level, and I think if the possibility of having a child with downs (even though it is STILL low at 1:213) is causing you significant stress, then the amnio may really be worth it for your peace of mind. This is particularly true if you didn't have much trouble getting pregnant in the first place. Anon
What a difficult decision you have on your hands. If you would not be fine with a child that has Down's Syndrome, the amnio then becomes a necessary procedure to give yourself peace of mind. The one thing you don't want to do is to worry throughout your pregnancy as to whether your child will have downs syndrome. Don't put yourself through that agony. Talk to your doctor and your genetic counselor to get their advice also. I had an amnio because of my pregnancy age, 39. The previous year, I had a miscarriage. I could've had a child born with Down's syndrome also. I was afraid of a miscarriage with the amnio, but like you, I didn't want a child with Down's Syndrome, so I had the amnio. The procedure was entirely my decision. I had it done. When the results came back normal, I was so relieved, I cried tears of joy. Good luck with your decision. Cheranne
I understand how painful a decision this is for you but for what it's worth I think you should have the amnio. At CPMC (in SF) the rate of miscarriage from amnio is lower than 5% and I had an amnio once (age 38) and at age 42 a CVS (even riskier) without any trouble. The doctors there are really 1st rate! Since you don't feel you'd be able to care for a Down's baby, what choice do you really have? I think you should also factor in how easy or difficult it was to get pregnant this time. At your age you do still have time to have a healthy pregnancy. I'm sorry you have to go through this and I know it would be devastating to terminate/loose the pregnancy as well as to have a baby you feel you can't handle! anon
I think you ultimately have to decide what would be worse for you, to have a child with downs (or another detectable disorder) or to have a miscarriage. In my case, I rather lose a pregnancy than have a Downs child, so I would have the amnio. anon
My sympathies! I recently went through some very similar handwringing, in a very similar situation, though in my case the nuchal scan came back with a very low risk of Down syndrome (1 in 3000-something) and the AFP with a *very* high risk (1 in 30- something). In the end, I decided against the amnio, and a few weeks ago I had a healthy, normal baby girl. There is no ''right'' answer in your situation, only the answer that is right for you. Most of my friends said they would have chosen to have the amnio because ultimately, not *knowing* would be the worst part for them -- and because they would do the necessary research to find a doctor whose stats on complications from amnio were considerably better than the overall average. (For that matter, I have one friend who *did* choose to have an amnio after a high-risk AFP result. The doctor she found to do it had performed over 6,000 of the procedures and had never had a complication. I can't recommend the doctor because he's in New York, but I expect we have people with similar records here in the Bay Area.) But for me, the risk that the amnio would *cause* a miscarriage or other problem for a fetus that would otherwise have turned out to be normal, even though it was a very small chance, was not a risk I was willing to take; I just didn't think I could live with myself if it happened. On the other hand, the risk of having a baby with Down syndrome, while not a prospect I relished to say the least, was something I could imagine coping with if I had to. And for whatever reason, decision having been made, I'm the type of person who would not worry and stress out for the rest of my pregnancy over ''not knowing.'' I was also fortunate enough, of course, to have had the two different test results -- I chose to believe the good result and disbelieve the bad one, a choice that was reasonable given what limited data exists comparing them.

It was a difficult decision, though. The above is a very condensed version of my thought process and the conversations I had with everyone I knew who was or had been pregnant in the last few years, as well as with Mickye Adams at East Bay Perinatal, who was very helpful and supportive. My heart goes out to you, and you have my best wishes for making the right choice for you and for a happy and healthy pregnancy! anon

I too had the NT screen with the double marker blood tests. Luckily, my results for my age (39 at the birth of my son) ended up being less than that for my age (screen negative). I also had the other screen test at a later date and that one came out positive. My doctor felt the NT test was 90% effective while the other test (forgot what that one is called) was about 75%. So, we agonized over having amnio or not but decided to not do it and play the odds. Our baby was absolutely fine.

If I had gotten your results (same risk with downs or with miscarriage), I would probably have gone through with the amnio. But, then again, I'm not sure. I remember feeling anxious about our decision to not have amnio the entire time up until I laid eyes on my son. It took us about 2 years to get pregnant so a miscarriage would have been devastating.

I still believe that the odds are with you and everything will most probably be fine but if you aren't willing to gamble, you really need to have the amnio for peace of mind. But, remember too, there are other defects and problems that could arise that amnio will not guarantee...for instance, the risk of autism is much higher percentage wise than your risk of downs. And, there is no test for that. You have no idea what you'll have to deal with down the road. It's just the risk you have to take if you decide to have a baby. It is scary, but remember, that despite how much they guilt and scare women 35 and over, the odds are still with you that everything will be fine.

Incidentally, I ended up with preeclampsia post partum. My odds for this were much higher (something like 5 percent of pregnancies can get preeclampsia) than downs. Yet, I was never warned about this. It was never discussed. The books I read gave it only a few short paragraphs. And, even though my blood pressure was up starting at week 36, the doctor still discharged me after the baby was born and my post c-section hospital time was up even though I was beginning to swell, I complained that my heart wasn't pumping, and I had fluid in my lungs. Go figure. I went back to the hospital for another 3 days where they pumped me with lassex and I peed all the fluid (and, all my baby weight) in 24 hours. But, while it was happening, I really thought I was going to die and leave my son with no mother, my husband a widower. In the end, we were all fine. Good luck to you.

for an AMNIO ALTERNATIVE, see East Bay Perinatal Medical Associates website: Here's an excerpt: NT (nuchal translucency) screening is a new procedure designed to detect certain birth defects during the 1st trimester, almost 2 months before previously possible. It is a painless ultrasound examination that visualizes the area behind the developing fetus' neck, which can accumulate excessive fluid in fetuses that have Down Syndrome and certain other birth defects. Although the presence of this finding does not mean the fetus has a problem, the test will pick up approximately 80% of all Down Syndrome fetuses when performed by practitioners certified in this procedure. When combined with blood testing for two pregnancy-derived biochemicals, free beta- human chorionic gonadotropin (free-Beta™) and pregnancy- associated plasma protein A (PAPP-A), the detection rate for Down Syndrome approaches 90%, approximately 30-40% more cases than with traditional blood screening utilized today Best of luck Christina
This weekend (Sunday, June 20) there was a cover story in the New York Times about Pre-natal testing - the pros, cons, larger medical and social implications. It was really interesting, and the current discussion about whether or not to have an Amnio made me think to post this. (That and my personal experience recently with getting ''ambiguous'' results from a CVS test, requiring me to wait for 2 months for a confirmation amnio, which was agonizing. [All was fine in the end, BTW!]) Worth a read - I'm sure the article will be retrievable online. For what it's worth - the actual amnio process is not a big deal, the rates of related miscarriage are very low around the Bay Area. (It is HARD, by the way, to really connect a miscarriage directly to the amnio, unless it happens in like the next day or 2... a miscarriage later on could be a result of any number of things.) I would still make a point of going to one of the top practices - Goldberg and Otto at CPMG are the best, and I hear UCSF is good too. Alta Bates Prenatal does FAR fewer CVS's and I would NOT go there for that test, but I don't know their amnio practice rate. I'm sure it's pretty high - it's such a common procedure these days. I wouldn't sweat the amnio if you're really sweating the possibility of a special needs baby. Good luck and try not to worry. anon
It sounds like the odds of a Down baby based on the nuchal lucency test are just a bout the same as for your age anyway, so, although it is not exactly 'negative', it doesn't seem too positive either.

I've had three children; with my first one, prgnant at age 35, the obg still really INSISTED on an amnio, even though my risk of abortion from the test would be highter then the risk of Down at my age!! I refused. My second, pregnant at 37, my blood test was positive and my (highly alarming type of midwife, as I later found out) really insisted on an amnio, which I did; it was negative, as I already knew in my gut. I absolutely detested the test; I hated to invade so into the baby's sacred space; my baby son foetus moved an extreme amount for the couple days following it; plus, I was not allowed to lift anything over ten pounds for a couple days, which meant for me I had to hire babysitter just to help me with my then two year old for 8 to 10 hours a day; a little fact they never mentioned to me until after the amnio. With my third, pregnant at 40, I just had an intensive Ultrasound done, they looked at nuchal ligament thickness and heart chambers pretty closely (I think these are areas often abnormal in a Down's baby) and it looked fine. I am SOOOOOO glad I didn't have an amnio done on her. She's a beautiful normal child too. In short, in my experience, the medical professionals way overstress having amnios; it's like a mandate, so society won't have the expense of caring for a Down person. One thing the amnio won't tell you either, is if this baby will have severe or very mild Down's. I am not too familiar with the nuchal lucency test, I think they came out with it just after I had my last baby. I know a friend though, in a very similar situation, who was also pressed to have amnio after a ''positive'' nuchal lucency. Her daughter is fine too, and the mother was quite young at the time too (I think 35 or 36 - so young to be considering all these tests at all, in my mind).

I would really ask a lot of questions: at what point, what number, do they consider this test negative? How accurate is an in depth late in preganancy ultrasound to rule out Down's (ie at a point where you can still terminate pregnancy if you want), va amnio etc. Really ask them for numbers, because they're really have a pro amnio bias anyway, so you really have to interpret the facts for yourself. I think they way overdo it on these tests, and really cause a lot of maternal and familial stress: instead of enjoying your pregnancy, you end up running from test to test, at least that's how I felt. I also deleted that awful sugar loading test in my last pregnancy: I said, hey, if I'm diabetic, sugar would show up in that pee test with the stick you do at every visit anyway. Anyhow, good luck. E-mail me if you want. Leia

I faced this decision last year and decided not to have the amnio. Although the risk of amnio induced miscarriage in my case was about half of the risk of Downs, somehow the miscarriage risk *felt* high and the Downs risk *felt* low to me. My decision in the end was based on emotions rather than numbers: 1- it just felt wrong to violate the womb by sticking a needle in it, and 2- I came to realize that what I wanted to know wasn't ''does the baby have Downs?'' but ''is the baby fine?'' and there is no test that can tell you ''is the baby fine?''. Not to make you worry more, but so many things can happen during pregnancy, delivery, infanthood, childhood and on that I decided knowing the baby did or did not have Downs wouldn't solve the bigger question and I'd just have to make peace with the basic element of risk that is always present. Which I have. - good luck with this hard choice
I just finished spending the weekend with my sister and brother- inlaws, and their two children. Their older son (almost 3) has Down's syndrome, and a host of other related health problems. He's had several surgeries, been near death several times, and is still on an oxygen line at night, a feeding line, and has to have his trachea suctioned out frequently. He also is very withdrawn (may be autistic, or at least deeply depressed), and is not interested in interacting with relatives or other people. I say this to remind people that not all Down's syndrome kids are happy positive kids who are a joy to be around. He has nearly ruined their marriage, and their younger daughter gets very little attention. They did not do amnio the first time because my sil was 35 and they thought it would all turn out fine. They DID get amnio the second time, because they knew they could not handle another kid with birth defects. I also have another acquaintance who recently had amnio and make the difficult decision to have an abortion. I did the nuchal translucency and blood screen when I was pregnant (I was 33), and the results were negative. If we get pregnant again, I have no doubt that I will have either CVS or amnio. A mom who knows her limits
After all the discussion I had to chime in. At age 37 I found out our baby had Down Syndrome. I would have been 37 at delivery. Second pregnancy, 38 at delivery, Down Syndrome again. I hate to tell you, but it does happen. Most people don't talk about negative amnio & cvs results - many wome! n tell friends and family they had a miscarriage. One other thing - until you are given negative results from an amnio or cvs, parents really do not know what they will do. This is not to scare you but to let you know it does happen. the other side
My first child I had when I was 34, so I had an ultra-sound and AFP test but no amnio. My second child I was 37 with no indications of any problems, but my ob was pushing for the amnio. Also many of my friends had also had aminos, and thought it was no problem as well as thought I was crazy for even questioning it. I was still on the fence about the whole thing when I went in for a scheduled appointment for a amino. They do an ultra sound first. My tech was fantastic. Everything she looked at and measured she told me what it was and why she was measuring it. She looked for a cleft ! palete, heart problems, and many downs markers. I can't remember them all, but the amount of information was much more than it was for my first child. I'm certain she wasn't suppose tell me all that she did, but I was so happy and relieved she did. When she was finished, I told her I really didn't feel good about having an amnio. I asked her if she saw any reason that I should be concerned and have an amnio. She said the only 100% is to have an amnio, but she saw nothing to indicate that I needed one. The nurse and doctor then entered, and I told them I was going to skip the amnio, and they seemed a little miffed at me. After knowing all they can see in the ultra-sound, it kind of felt like amnio's were a cost center that made the imaging center a good profit. I really don't know, but I was surprised no one consulted me on the ultra-sound results before trying to give me the amnio (well ! the tech did. I think she even said she wasn't suppose to tell me all the info, but I don't remember exactly) My child turned out fine, and is currently trying to turn off my computer because he wants me to read him a book. Just thought I'd share my experience. Good luck annon
I missed the original posting and I know there have been tons of replies, but I couldn't resist adding one because I just went through this decision yesterday and found it very stressful. I had a nuchal translucency test that came out ``negative'' (i.e. a lower risk for Down's than for my age group, 1/670 or something like that), and then last week had an AFP test that came out ``positive'' with a 1/120 risk of Down's. I already had a 20-week ultrasound scheduled, so my midwife advised me to add genetic counseling and possibly an amnio. I am 34, but will turn 35 three months before the baby is due. We had previously decided based on the nuchal results that an amnio was not worth the risk (1/200 to 1/300 for miscarriage). Even so, I'm kind of a worrywart, and I worried throughout my whole first pregnancy (which resulted in an extremely healthy son, now! 2). I found the genetic counseling to be very unhelpful in making a decision - the genetic counselor either couldn't or wouldn't answer my main question, which was: Should we put more confidence in the NT which supposedly is 90% accurate, or the AFP, which is only 60-70% accurate? And logically, doesn't it make sense that my risk would actually be much lower than 1/120 since an earlier test put it at 1/670? She kept saying I was comparing apples to oranges, since the tests were screening for differenct hormones. Still unable to reach a decision (my husband was against amnio, I was leaning towards it), we decided to go in for the detailed ultrasound and make the decision on the spot, based on whether the baby seemed ok. Then doctor came in and answered my main question right away. He said it's always better to look to the most accurate test, and said having the normal ultrasound wihout any ``soft markers'' lowered my risk by another 40 percent. So an amnio would probably be more risky. We chose to believe him rather than the genetic counselor (who had also encouraged us to get other testing that seemed excessive), Since the baby looked so peaceful on the screen, I couldn't go through with the amnio and I feel ok with it. An interesting thing the doctor told me is that the AFP test is not designed for women who have already had the nuchal test. They are both screening tests, but AFP is a much older test, and nuchal is new. So there isn't yet a meaningful way to compare them, and if you get contradictory results it can be very stressful. There just isn't real data to compare them. I now wish I hadn't even had the AFP, since it just added a lot of extra stress.

There is still a part of me that would like to get the peace of mind from the amnio, which chances are would not have caused a miscarriage. It's a really personal decision, and ! of course one has to come face to face with the gut-wrenching question of whether you would want to terminate a pregancy because the baby had a non-life-threatening problem. This can be even harder to face if you already have another child, who would inevitably lose out on some attention. Hopefully, one day soon, there will be some better options forprenatal testing that are more accurate, less invasive, and don't cause us all such confusion and anxiety! anon

Sorry to drag this topic out even further, but I missed the original posting and felt compelled to chime in. I was 37 when I was pregnant the first time. I was always fairly certain about having the amnio--my mom had them with my youngest sisters, and I had always been one to ignore minor risks (like a loss from the amnio) and focus on the major ones. Two weeks after the amnio, I learned that I was having a healthy baby girl. Two weeks after that, I was in the hospital to have labor induced because my amniotic fluid had leaked following the amnio and my baby had ultimately died. No one at Kaiser had caught the leak despite numerous visits to my doctor and the emergency room, and no one there had told me what to do in the event of a leak (bedrest, supercareful about infection, etc.). So, not to scare all! of you, but you CAN come out on the wrong side of those statistics--and the statistics only count losses that occur within 2 weeks of the amnio, even when they are clearly caused by the procedure. With my second pregnancy I had nuchal translucency screening; had it come back high, I might have considered the amnio, but with a low risk result, I chose not to have one. My advice is twofold: First, ABSOLUTELY have nuchal translucency screening to help you come up with more information to decide about invasive testing (and if your plan doesn't cover it, like mine doesn't, pay for it yourself--it's worth it). And second, consider whether you would terminate if a chromosomal defect was found. If you would not, there's no point having the procedure and incurring the risk. If you would, it may well be worth the risk. Monika

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
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