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Down's Syndrome testing now recommended for all pregnant women
Filed under: Your Pregnancy, Media
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?












ReaderComments (Page 2 of 2)
1-01-2007 @ 1:26PM
Brenda said...No, never. Not even a little bit.
For one thing I decline "routine" ultrasounds, which (unless this changes the recommendation) were in fact NOT recommended for low risk pregnancies as at best they do not improve the outcome, and at worst they increase induction and c-section rates.
Two there is no treatment for Down's or any other genetic "defect" in utero. The only "treatment" is abortion, and while I am pro-choice: EUGENICS IS WRONG. No exceptions. If you personally choose not to have children because of the risk of certain genetic disorders that's fine, but if you choose to have children you take what you get. There is nothing wrong with a person who has Down's or is deaf. They are who they are.
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1-01-2007 @ 2:30PM
Meredith said...When did the recommendation for having this test also include the recommendation of terminating the pregnancy with a positive result?
Why does the March of Dimes support this test if the sole reason for it is to produce "a master race"?
Instead of climbing up on the soapbox and shouting about your righteousness, explain why so many of you think that the OBGYNs of the world all want you to abort a baby with a defect.
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1-01-2007 @ 4:02PM
Jen said...The combined test (bloods plus ultrasound) - at least in the UK is billed as 90% accurate. The triple test is about 60%. I decided to go with the combined, although I had to pay about US$300 for the priviledge (only triple testing is available on the NHS in my area).
It is not a test that would make me have an abortion, but would give me the option to go on to have a CVS or amnio to determine the 'real' situation if there was a problem indicated. It removes the risks of an amnio/CVS in the first instance, with a far higher accuracy. I had a reassuring result - I had a maternal risk of 1 in 620, adjusted to 1 in 21,000 for Downs after the test, and 1 in 50,000 for Edwards. I know there is still 10% chance the test was wrong, but I am happy with that.
I am not going to get into a pro/anti abortion argument - I think it's more about information and being prepared, and as a previous commenter stated, ensuring that you will not be bringing a child into this world who may die in childbirth (thus possibly putting the mother at risk), or have serious and life-threatening problems that can be treated for in advance. Certainly with the increasing evidence that neonates can feel pain (not really sure why there was any doubt here, but never mind!), also preventing the suffering of a baby who would never make it (ref. Edwards Syndrome).
I would far prefer being prepared - especially as this is my second child and would impact greatly on my first born if there were problems. It is a non-invasive and accurate test, and one I feel is very valuable if only to reassure.
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1-01-2007 @ 9:23PM
Tina said...I was also over 35 and had a family history of Down Syndrome- so we chose to have the amnio back in 2002. I wanted to be able to have time to absorb the news if indeed, we had a positive test result. Even though the amnio had a risk, I needed to know. I couldn't bear the idea of a "surprise" of any kind with this issue. A cousin of mine with Down Syndrome is 42 and has never been able to speak and needs help with bathing, toileting, and basic living skills. He will function as a 3 yr old....forever. He is also prone to running away and breaking light fixtures. Not all Down syndrome children are placid and sweet or able to live independently. My aunt has taken care of him continuously and is now approacing her 65th birthday. She has bathed him, fed him and cleaned his bottom after toileting for 42 yrs.
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1-01-2007 @ 9:09PM
Amy said...I had the AFP with both pregnancies, and both came back as false positives. With my first pregnancy, the nuchal test also came back positive. So we had the amnio, which gave us the difinitive answer: no Downs. I think before anyone decide to abort, they'd have the amnio to be sure. When we thought my son had Down's, I did not plan to abort, but my husband was undecided. It's a very personal choice, and I would never condemn anyone for their decision. Also, the AFP tests for many things besides Down's, including some that are fatal. If I have a third pregnancy, I will do the CVS to avoid the false positives of the AFP and the 2 week waiting period of the amnio.
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1-01-2007 @ 10:50PM
twins&oneismonkeysfun said...As a Mom of children with Down Syndrome, I worry that this recommendation will increase the abortion rate (currently 90%) of fetuses diagnosed prenatally with Down Syndrome. To me, that will be very sad because I have learned so much more about love, life, and the meaning of happiness from my two chomosomally enhanced children than I have from anyone else I've met to date, hubby included.
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1-02-2007 @ 10:02AM
AdrienneB said...I'm surprised that no one has commented on *why* OB/GYNs are now recommending this test for all women. There is no health reason whatsoever for a woman under the age of 35 to have this test because the chances of having a child with a birth defect are so low. I think this is just another money grab by the medical profession and if I were under 35, I'd have no part of it.
That said, I declined genetic testing when I was pregnant at age 35 and everything turned out fine. However, at age 39 if I got pregnant again I'd have the testing in order to ensure that the proper specialists were on hand for the birth. I would *never* choose to abort because of test results. I couldn't live with even the slightest uncertainty.
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1-02-2007 @ 12:41PM
mamaloo, the doula said...Adrienne (et al), I think the phrasing "recommending test to women of all ages" is actually a miscommunication. I believe the test is recommended to be offered to all pregnant women, despite age. This rephrasing has different implications, as I'm sure you'll agree.
The reason they are now offering the testing to pre-35 year old women is that while the older you are the higher , statistically, your chance of conceiving a child with Down's, the previous use of the number 35 as the cutoff age is purely arbitrary.
To address Meresith's concerns, as a birth professional, when I speak with clients about the screening, we discuss what the couple with do with the information once they receive it. Some couples would not terminate a pregnancy due to a Down's infant, some would and some would want to prepare to welcome a Down's infant into their home.
Where you fall in that spectrum will determine whether or not you will consent to the test. Generally, I counsel families to think about the fact that if the way they will use a Down's positive outcome is to terminate their pregnancy (something I'm careful not to stigmatise as it's the woman's and the couples right to choose what to do with their own bodies, not only ethically but constitutionally) then they should have the test. If the way they will use the information is as prepatory or they will continue their pregnancy, I point out that the Down's (and otherr major chromosomal problems) will be picked up at the routine 20 week U/S (if they are consenting to prenatal U/Ss, which some couples don't).
In Canada, further genetic testing is recommended (read: more invasive) in the event of a positive outcome of this test, so it's not going to be a case where the initial screening shows a false positive and a couple terminates their pregnancy and whoops, no chromosomal problem.
I refused the Triple Screen for my first pregnancy. I was going to refuse this test, but my husband has decided he'd prefer to terminate a pregnancy in the event of a positive result. I'm still on the fence. As a woman of supposed advanced maternal age (I'll be 36 nest month) I can see all sides of the argument and equally sympathise with all. I guess, in the end, we'll test and take the next step from there. I go to see my midwife in 2 days and have to give a final answer then. I'll probably do the test within a few days of that.
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1-02-2007 @ 11:46AM
DaniGirl said...They've been offering integrated prenatal screening in the first trimester in Ontario (Canada) since 2003 or so. I had it for my second pregnancy, and the one I recently lost.
When I was pg the first time, I was told that the AFP screen had a very high false-positive rate, but that IPS (two blood tests and an ultrasound) is much more accurate.
I'd take the test again. My AFP for my first son was a false positive, but we declined the amnio. My IPS ultrasound showed no problems, but the baby died within two weeks, by the time the second set of blood was drawn.
Just because you favour the tests doesn't mean you are compelled to act drastically on the results. And there are some genetic abnormalities that are a heck of a lot worse than Down Syndrome.
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1-02-2007 @ 7:09PM
Christine said..."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."
Well... that is not exactly what that statistic means. The other 20% could just be inconclusive....
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1-04-2007 @ 9:19AM
Sandy said...http://www.amazon.com/Defiant-Birth-Resist-Medical-Eugenics/dp/1876756594/sr=8-1/qid=1163263349/ref=sr_1_1/002-0660506-1865617?ie=UTF8&s=books
I came across this book a couple of months ago. It's about families who have faced the pressure from the medical profession to abort their babies. They chose not to and didn't regret it.
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1-05-2007 @ 9:56AM
Beth said...I did NOT have the prenatal testing for by pregnancy in 2000, as it would have just scared me to death. However, I delivered a healthy, beautiful son with Down's syndrome. I could not have asked for a better child to raise and love. He changed our lives and is still changing others around him. Life is short, just be thankful to be able to raise a child, with or without disabilities.
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1-10-2007 @ 9:18PM
lt said...Whoa Brenda - Being deaf and having Down's are two VERY different things! If my baby was deaf, I would know that he or she could still live a very full, happy, healthy life. But Down's......that's different. I don't think I want to be 80 years old and still taking care of my adult bodied/child minded son or daughter. I'm all for testing.
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1-28-2007 @ 9:49AM
Kaley said...I had my first ultrasound at 17 weeks, which took place last week on Friday. My daughter was curled up in a tight ball and the ultrasoundists were unable to get a clear enough picture of the back of the head and other vital pictures.
I was then sent to a high risk doctor. They found that my daughter's bowel was "bright", that the NT was 6.0mm, and they thought something looked funny about the heart but could find nothing wrong with it after an hour of examination.
My chances of down syndrome or any other genetic birth defect was 1 in 1600 because I am 20 years old. The doctor said my chances now are 1 in 9. Even though everything they saw was in normal range, it was considered suspicious enough to heighten my chances significantly.
The doctor made it seem like I was going to have a down syndrome baby for sure. Even though the child had a complete nose, the face is shapped normally, she opened her hands plenty, and moves quite a bit. He said he wasn't pushing genetic testing but it sure felt like he was by how he was putting my baby's "condition."
I'm torn whether to take the test or not. I would never abort, so the information would help me to get prepared. I already have one son who is perfectly healthy. The only negative I can see to the test that if it comes back positive I would be devastated emotionally.
What is your advice and stance for genetic testing on women who have been told their chances are one in eight? I was against genetic testing unless the woman was extremely high risk. I now fall into that category.
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1-28-2007 @ 10:32AM
Jenny said...Hi Kaley - at this point you are talking about amnio, not the nuchal translucency test being discussed here. The only downside of amnio is risk of miscarriage, which is about 1/250, or maybe less depending on what you read. If you would be "devastated emotionally" I think it might be worth getting through that before you actually have the baby, so it would be upside to finding out sooner rather than later.
When I was in the midst of testing I also found it useful to research local support groups for Down syndrome parents. Try googling "Down syndrome" and your town.
I had several "echogenic focii" (bright spots) on my daughter's ultrasound and all was fine. Best of luck to you.
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2-15-2007 @ 10:04AM
Tara said...I am 10 weeks pregnant with my second child and will elect to have all the tests available.
If a test shows there is a chance of the baby having Down's I would definitely have a termination. I could not cope with a disabled child.
I applaud those who could, more power to them, but for me, it would not be an option.
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