I recently turned 35 and am pregnant with my second child. My Dr wanted me to get an amnio, which I refused due to the risk os miscarriage. He then told me about an alternative test called Genzyme workup. Does anyone know what this is or have you had it done? Dr said it was a blood test, but has to be done by a specialist. I haven't been able to find much about it on the internet & am not sure what to think. I know it has to do with testing for Downs Syndrom and must be done between weeks 11 & 13, but I would feel better with a little more knowledge. Any assistance would be greatly appreciated.
This test is not a definitive diagnosis of anything. As others mentioned, it may tell you if you have increased odds. Quite frankly, if you are unwilling to have an amnio, I wouldn't bother. Amnio is the only true definitive test so if you get a false positive (like many people do), it just causes worry.
Good luck.
The Genzyme test is what some other doctors are calling the first trimester screen. It is a combination screening that uses both the maternal blood test previousy done around 16-20 weeks gestation (often called the triple scrren, quad screen, AFP, or alpha-fetal protein test) and an ultrasound to measure primarily the thickness of the nuchal fold (skin on the back of the babies neck). This combined approach has made the testing much more accurate than the bood test alone, but there still are a number of false positives. If you do test positive it is not a definitive diagnosis for Down's Syndrome, they will give you the results in an odds ratio (i.e. you have a 1 in 20 chance of having a bay with Down's Syndrome). They will recommend an amnio to know for sure, but that will still be up to you, you can refuse further testing.
Many people, as indicated by previous responses, believe there is no point to having the test if you would not abort the pregnancy based on the results. But I think parents can benefit alot by being aware of the confirmed or suspected diagnosis before the birth. Knowing the sex of a baby before it is born is important to so many parents, not because they will abort one sex or the other, but so they can prepare (i.e. names, clothes, nursery theme, etc). Preparing for a special needs baby (getting educated on the diagnosis, grieving for the loss of a "perfect child", teaching siblings/family/friends, etc) during the pregnancy rather than after the birth can make for an easier transition. Things can already be trying enough postpartum without the added stress of an unexpected diagnosis.
Good luck in whatever decision you make.
S.
It's amazing all of the tests that they can do now. We opted not to have any done with my pregnancy because it would not have affected our decision to carry the pregnancy to term. (Ie we would not have considered aborting the baby simply because of downs or any other birth defect. We did have an ultrasound at 20 weeks). I guess my point is that unless you're actually going to DO something with these test results if they come out bad, you might consider not having the test done at all. It's expensive and I'm not sure what you gain from it at that point.
I agree with the PP- what would you do with this knowledge and what good would you gain from it?
The nuchal translucancy scan in the ultrasound along with other "soft" markers (such as heart or kidney problems) for downs syndrome can give you a pretty good idea from an ultrasound.
I had my second baby when I was 40, They wanted to do all the tests. Amnio, etc... My thinking was why have the tests. Even if the baby should have downs I still was going to have him and love him just the same as if he didn't have downs. If you plan on keeping the baby even if he/she should have downs why bother with the tests. Just read up on it and consider it a little more challenging gift from god
congratulations and good luck
I had this test done and it was a false positive. I spent weeks upset. I did not want to do the amnio for the same reasons as you. In the end I did do the amino and I am glad I did. I spent the rest of my pregnancy more at ease. There is no pain involved. The results came back negative. I now have a healthy 9 week old girl.
Maybe it is the bloodwork part of the Nuchal Translucency test? I'm having an NT today, I can certainly ask. I know they are doing both bloodwork AND an ultrasound to measure the neck and look for Down Syndrome and Spina Bifida, etc.
Agreeing with the previous poster, if it it Downs you are worried about, then I would first ask yourself if you are willing to terminate the pregnancy if tests are all positive. If one test is positive, they will encourage you to test further (with an amnio.) There are LOTS of false positives with the blood tests, I know, which might lead you to having an amnio that turns out normal anyway.
If you're not willing to terminate no matter what, then I would not even consider the testing since it won't matter and you'll be a Mommy either way!
Congrats on your pregnancy!
'M.
Hi I just came from the doctor this morning and im 7 weeks pregnant also with my second child and have a choice to take this same test in a couple of weeks. I am also 35. The nurse gave me some paper work about it and just told me it tests for downs and another disorder, something that starts with an 'a'. I can be more specific when I have the paper work in front of me. From what I gathered it is only a blood screening and the results go through a genetics specialist. If you would like more info or if you would like a copy of the paper work that i received email me and I can make arrangements to send it to you.
