Down Syndrome

df1 · 06-10-2008, 04:53 PM

Hi Ladies, Well i just went to my 18 week doctor's appointment and my doctor mentioned the down syndrome blood test that i could elect to take to see if down syndrome is a possibility. Well i guess my question is.. are we PCOSers at a higher risk of having children with down syndrome? Are our eggs not as good as other women even if we are at maternal age? It might be a weird question but i thought you ladies would be the best to ask.

PBLayzod · 06-10-2008, 05:32 PM

I've never heard anything about that.

I will tell you that if you elect to have the test, abnormal results do NOT mean that your baby has a problem. This is only a screening test. Abnormal results are used to determine what women are eligible for additional screening. Additional screening usually includes a level 2 ultrasound and an offer of an amnio. I declined the amnio when the ultrasound failed to show any markers for Downs. DD is perfect. There isn't anything wrong with having the test, but it's good to know ahead of time that you shouldn't panic if you get a phone call about them.

Holdensmom · 06-10-2008, 05:55 PM

I don't know if we are more at risk or not? I did have the test with both my pg's and everything came out fine. Personally I would do it, but that's jmho...

Twisted Cyster · 06-10-2008, 06:10 PM

I don't believe PCOS is a factor. I was offered the test because I am at age 35 now and will be having our little one in about a month. The risk tends to climb if you are over 35 or have a family history of Downs. Are you in your 30's? Maybe your doc is just playing it safe.

I agree with the previous poster on the results and I can't stress it enough not to freak out if your chances of having a Downs baby increase. My chances went from 1:398 down to 1:32. The doctor was pushing for an amnio, but finding out we were going to have a Downs baby did not phase us. We would have been just as happy. However, we were worried about any heart problems associated with Downs that she might have.

There was no way we were going to put our baby at risk of a miscarriage just to find out something we didn't care about. They did some detailed scans of the heart as well as other blood tests, and after that was all said and done, we went bak up to a 1:1510 chance (or the same chance a 21 year old starts out with). And this way we didn't put her at risk.

If you choose to have it done, just know going in that 1) a lot of these tests carry a very high rate of false positives and 2) when your doctor gets those results back and if you do show an increased risk, they don't hold back when telling you what COULD be wrong. Many doctor's do try to push amnio for definate results, but it is ultimately YOU who decides what is and is not best for your unborn child. When I told my OB, and the technician...and the other doctor that we chose not to have it done I was questioned with 'why'. All I said is that we don't consider a Downs baby to be a negative thing and we just want to make sure that her heart is good. That shut every one up.

I guess I went on a little longer than needed. So in short PCOS is not a factor. Hope this helps.

academium · 06-11-2008, 10:12 AM

Having PCOS does NOT increase your chances for having a downs baby. The biggest risk factor is maternal age. Basically if you're over 35, your chances start to go up a lot.
I refused that particular test because the false positive rate is so high. That means the majority of people who get a positive won't have a downs baby but end up getting an amnio to make sure. They can also check for many of the downs markers at your 20 week ultrasound. That's what I elected to do both times but I'm in my 20s yet so my risk was pretty low.
Good luck. It's a hard decision but you should be aware of the test's limitations.

rainyangl · 06-11-2008, 11:13 AM

Ditto what others have said. The test does have a high false positive rate so if you get a bad ratio try not to freak, chances are everything will be fine.

PBLayzod · 06-11-2008, 01:13 PM

Just want to point out that the high "false positive" rate is because the test isn't a diagnositic test, but a screening test. They want to miss as few women with problems as possible, so the result is that the test will show positive for lots and lots of women who are just fine. Doesn't mean there is something wrong with the test, that's just how it's set up. It's important to know that going in, though. Otherwise, you freak out when you get the phone call from the concerned sounding nurse.

academium · 06-11-2008, 09:30 PM

Quote:

Originally Posted by PBLayzod
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Just want to point out that the high "false positive" rate is because the test isn't a diagnositic test, but a screening test. They want to miss as few women with problems as possible, so the result is that the test will show positive for lots and lots of women who are just fine. Doesn't mean there is something wrong with the test, that's just how it's set up. It's important to know that going in, though. Otherwise, you freak out when you get the phone call from the concerned sounding nurse.

That is correct. It's just something to be aware of if you do decide to go ahead. Just think of how you'd proceed if you got a positive. My OB basically said, if you're opposed to getting an amnio, don't even bother with this test because that's where you're headed if you get a positive.

sarahgmac · 06-11-2008, 10:13 PM

We didn't do the screening with my first daughter or this last daughter. We did with the second because I was on provera when I got pregnant and I was worried about birth defects.

PCOS women are NOT at more risk for Downs. The risk factors are by age and I think family history.

The biggest worry we had about Downs is that the baby can have heart problems. Being that I am diabetic they were going to do a study of the baby's heart anyway. So we opted to not do it. It wouldn't matter to us. We would still want the baby even if she had Downs.

Shejayd · 06-13-2008, 02:35 PM

I got tested only because there are defects within DH's family, there is Angelmans and Downs, so i think it really depends on factors. I am only 24, so the risk is quite low in general. Mostly the doctors just ask to see if its something you would be interested in.

advising_lady · 06-13-2008, 08:33 PM

No relation between PCOS and DS. It's just routine for drs to offer the test. I declined even though DH and I both have family members with Down's. We figured nothing would change for us and if we did have a child with Down's we have friends nearby with DS children who could help us find the best dr's and specialists.

uwalcott · 06-14-2008, 06:06 PM

I hate to have to question the general consensus, and I do agree that there is no specific relationship between PCOS and Down's in particular. However, my RE told me that some women have something called a "spindle defect" that makes them more likely to produce chromosomally abnormal embryos. It can be caused by poor egg quality or by a poor match between egg and sperm during meiosis. This can lead to repeat miscarriage or in some rare cases, to a child with birth defects. I did some research and did find one study (just one...) that showed a link between PCOS and spindle defects. I have also noticed that although genetic defects are common in general, there seem to be quite a few women on these boards, including myself, that have a child with a genetic abnormality. In my opinion, all PCOS women should be tested for genetic syndromes just to be on the safe side. (There is no family history of genetic defects in my family but I have had two chromosomally abnormal pregnancies and no normal ones, so far.)

Sorry to be the one person going the other way!

Sister66 · 06-14-2008, 09:22 PM

We opted for the testing this time ONLY because the doctor that I was seeing in Ga replaced the triple screen with a blood test and ultrasound at 12wks, then an fetal echocardiogram around 18wks. DD was born with a congenital heart defect so I really wanted the echo to check this baby's heart anyway and figured an extra u/s was worth it.

According to the Genetic Counselor we saw before our last ultrasound, PCOS does NOT increase the risk of down's syndrome.

JSTysinger · 06-16-2008, 12:13 AM

My dr actually advised against the blood test after he found out that Downs would not change our mind on keeping the baby. Said that the stress of a false positive was not worth it. He felt that a better predictor was the Level II ultrasound (which we did do to also check the heart) and that if there was a concern after that, we could do the amnio. Everything looked good on the u/s, so we decided on no amnio. A lot depends on the answer to "what will you do if the results are positive and how will it change your view on the pregnancy and additional tests you might have."

Best of luck with your decision.