Down's Syndrome testing now recommended for all pregnant women

by Kristin Darguzas (Subscribe to Kristin Darguzas's posts) Jan 1st 2007 8:00AM

Starting this week, the American College of Obstetricians and Gynecologists will change its stance on chromosomal defect testing in pregnant women.

Up until now, the College had recommended Down's Syndrome and other chromosomal defect testing to pregnant women over the age of 35. Due to both the reduced invasiveness of testing and the new ability to screen effectively in the first trimester, doctors have decided to recommend the test to pregnant women, regardless of age.

The newest method for testing for Down's includes a blood test combined with an ultrasound, called a "nuchal translucency test". The test negates the need for amniocentesis to test for chromosomal defects by measuring the thickness of the fetal neck. It is said to be about 80% accurate with a small risk of false "positives".

I have mixed feelings on this. I rejected my doctor's offer of an amniocentesis when I was pregnant, not because of the invasiveness, but because I didn't want to know whether or not my baby was at high risk for Down's Syndrome. I thought that I would just deal with any surprises when the baby was born. I believe that these tests can sometimes cause unnecessary confusion and angst rather than reassurance. And I think I'd always worry about the false positives. I wouldn't take the test, but I know my opinion might not be very popular around here.

How about you? Would you take it?

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Comments (36)

Reader Comments (Page 1 of 2)

Kim 1-01-2007 @ 8:31AM

Due to my age (39 when my son was born and 41 when my daughter arrives in April) I have had CVS with both of my pregnancies and found getting the results very reassuring. I have also had "normal" AFP results both times, though I know the rate of false positives with that test is high.

My husband and I concluded we would rather have more information and the opportunity to make a decision rather than the alternative.

Maybe I'm just one of the lucky ones but I would have prenatal testing again in a heartbeat (but this is my last pregnancy!).

Sandy 1-01-2007 @ 12:46PM

80% accurate?? They must be high. That's an even lower batting average than the AFP, which is notoriously inaccurate.

But, hey...anything in the name of The Perfect Race.

Ugh.

Jenny 1-01-2007 @ 9:16AM

I did have the first trimester testing as I am well over 35. It is non-invasive and no problem. It was definitely preferable to amnio or CVS. However, I was appalled at the pressure I received to have further testing. Down syndrome is not the worst thing that can happen to a baby; it is just something that can be found through testing. Becoming a parent is a risk no matter what. I have very mixed feelings about everyone having testing. I recommend this article, which discusses the problems in how test results are presented: http://www.post-gazette.com/pg/05276/581982.stm

Ms Sisyphus 1-01-2007 @ 10:14AM

I'm with you Kristin. I refused testing before and would do so again. I suppose if you knew you would terminiate based on an unwelcome result the tests might be of value, but otherwise I just don't see the point. If it's not going to affect your outcome, why bother?

Keri 1-01-2007 @ 9:32AM

I absolutely would refuse this kind of test. My midwife doesn't do it anyway and only offers it through a doctor she works with if the parents want to take it. Think about it...if you take the test and you find out the baby is at risk for Down's, what are you going to do? Abort it? While I am pro-choice, I do not believe that aborting a fetus for having Down's is justifiable. It's not a life-threatening disease and besides, can you live with yourself wondering if the test was a false positive? I believe that each of us is faced with challenges throughout life, whether it be raising a child with Down's, being deaf, living with a mental illness, having cancer, etc. I say bring on the challenges. They make us humble and stronger human beings.

Ethel 1-01-2007 @ 9:49AM

When I have my last two babies I am going to have whatever tests are available on the fetus I may be carrying. And yes, if it is positive for a trisomy after further testing I will choose not to carry the pregnancy to term. I don't need the challenges, I don't need humbling - if you knew my life story you'd know I've had enough, and I know their will be plenty of further humbling with healthy kids.

Just asking 1-01-2007 @ 11:07AM

So.... what happens to the healthy child that is in a car accident or another unfortunate situation that leaves permanent damage? Abortion isn't an option then, is it? Or is it? Shall we push forward broadly defined euthanasia laws so that anyone who would have been aborted had they had this issue before being born could then be justifiably terminated?

julie 1-01-2007 @ 10:32AM

I did have this test done for my last child. It was very reassuring to me knowing that everything was okay. On the other hand, should the test have showed otherwise, I would have been glad to have taken it.

My reasoning is that I have the months prior to birth to prepare for my child's needs at birth and future. I live in an area where there is a wealth of support groups and organizations to help parents. I would want to have as much information about my child's condition as I could, so I could both advocate for my child and not feel victim to his/her condition.

Spring 1-01-2007 @ 10:37AM

"And yes, if it is positive for a trisomy after further testing I will choose not to carry the pregnancy to term."

Even if you knew there was a 20% (1 in 5) chance the baby was 'normal'? Not trying to challenge, just wondering how you came to the decision given the high chance of a false positive.

Chris 1-02-2007 @ 11:40AM

I had an amnio during my second pregnancy. Our feeling was that if there were a problem, we wanted to be as prepared as possible. There are some conditions they test for (other than Down's) for which it would be best for the baby to have specialists at the ready at time of delivery. If we did have a baby with special needs, we wanted to be sure we did everything possible to give that baby his or her best shot at life.

Jenna 1-01-2007 @ 10:50AM

We, personally, don't believe in the testing in our household. Nothing would be done with the results anyway so we elected not to have any form of genetic testing with our last one. Any future pregnancies will be the same. That said, do I think women should have an option?

Always.

Allison 1-01-2007 @ 11:22AM

I've had extensive testing throughout all three of my pregnancies. It is a very heart-wrenching process, but I believe that the more information the better. If a screening test (like the AFP or the nuchal translucency mentioned above) comes up positive, then further testing is needed to make a diagnosis (like an amnio and level 2 ultrasound).

As someone mentioned above, Down Syndrome is not the only thing that these tests screen for. Personally, if one of our children had DS, we would get prepared for that challenge in our family. However, my first pregnancy turned up Trisomy 18 and other problems that made our son unable to survive outside the womb. I'm greatful that we had the chance to find this information out before he was stillborn.

silver 1-01-2007 @ 11:14AM

Given how few fetuses actually have Down's, a small risk of false positives still equals a big chance that a positive result doesn't really mean a fetus with Down's.

If 1000 women are tested, chances are that only 1 (or at most 2) of them actually has a fetus with Down's Syndrome--especially if everyone gets tested as they are recommending. A "small" risk of false positives is usually around 2%-5%. So let's assume the test is really good (100% detection when it's there, 2% false positive rate). The one fetus that actually has Down's gets a positive and 2% of the remaining 999 women get a positive. That's 20-21 women with a positive result, of which, only 1 actually is carrying a fetus with Down's.

sorry if I upset you 1-01-2007 @ 11:48AM

When it comes to defect testing I am against most of it.I understand if people need to know to prepare. But I know in alot of cases preparing means killing the child.Science is an important thing but it's downsides too.Every child regardless of disablities has a place in this world.They all have a purpose.We have turned into animals killing our young if they're flawed.Having a disabled child or a child with a short life is terribly hard but I feel it's worth it.

Amy 1-01-2007 @ 12:09PM

My doctor pushed all prenatal testing with both my pregnancies, and I was in my mid to late twenties and in very good health. I was uncertain about it, and she explained to to me this way. If you would not terminate the pregnancy under any circumstances, then there's no reason to get the test unless you want reassurance or "time to prepare" yourself in the event that something is wrong. If you would consider terminating a pregnancy if there was something seriously wrong, or if having a child with severe mental, physical etc. defects would cause you lasting regret, then you should take the test.

I took them both times and was reassured that everything was fine. But it's a personal choice that I think just boils down to your personal beliefs.

Ginny 1-01-2007 @ 12:09PM

I refused the testing too. The only benefit I saw to having it would be to prepare me for the possible outcome. I figured the risks and the worry were not worth it. I think people with down syndrome are the most beautiful people on Earth anyway.

punky 1-01-2007 @ 12:12PM

Wow, it's amazing how fast everything can turn into an abortion debate.

I was interested in the new recommendations because I just barely refused the triple screen at my last OB appointment. I'm usually in favor of prenatal testing, but in this case it didn't seem worth it. I'm in my 20's and my risk of having a Down's Syndrome baby is very low. The chance of having a false positive on the test is fairly high, and the next step would be amniocentesis. The risk of miscarrying after amnio is higher than my risk of having a Down's baby in the first place. Spina bifida can be diagnosed at the 20 week ultrasound, so I don't need the triple screen for that either. It just didn't seem worthwhile to me.

I do think it would be worthwhile for people at higher risk so that they can either decide to terminate or get the extra prenatal care they'll need.

Meredith 1-01-2007 @ 12:28PM

I would enjoy some real statistics on how many women/couples opt to abort the baby when a positive result is given. Also, I would like to know how many of those positives are in low percentiles, meaning that there is less of a chance that Downs is really present.

I opted to have the test even though I am only 34 and don't have any history. For me, it was a choice to prepare for my life ahead, whether it be what sex my child is or if I will need some special support for a birth defect.

Too many women are so quick to judge that the only reason to get these tests is to create a perfect child. My experience is that most people just want to know what they are getting into ahead of time.

I do wonder why so often the opponent's first thought is "I would never abort my baby, so why bother" instead of "I see the reasons for preparing for a challenging childhood".

Jamie 1-01-2007 @ 12:53PM

I have a page about my experience with the nuchal translucency test on my blog because when I had the test in 2004, I could find very little nformation about it (and I'll be sure to add the new link mentioned above):

http://blondemomblog.com/nuchal-translucency-screening/

I'll admit that it caused me a lot of undue worry and stress over the health of my daughter, who is perfectly healthy. I would probably not do it again, but that's me. I think it's a great optional, non-invasive test, however.

Katrina 1-01-2007 @ 1:00PM

We didn't do testing with our 2 kids b/c it wouldnt change our minds about keeping them. And personally worrying a lot through the pregancy isnt something I want to do. Yes it would be nice to prepare if there was something wrong with my baby but I would drive myself crazy in the process.

As for aborting a fetus b/c of testing. My mother had testing done with my youngest sister since she was about 40 when she had her. The tests came back saying she was basically a very messed up child. No chance of survival and the Dr's pushed and pushed to "terminate" the pregnancy. She didn't and knew it was likely her baby would die once she was born. Well almost 16 yrs later my sister is your average teenager. She has never had any sort of mental or physical issue. Yes testing has come along way in the last 16yrs but the fact is they can still be wrong.

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