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questions about genetic counseling/nuchal/CVS/amnio
July 9 2012 at 5:01 PM
BroodyHen (no login)
i just confirmed my bean is still holding on in there - 8wk scan found the heartbeat again and still measuring on track. what a relief! so now i'm moving to the next step - genetic testing. when i was pregnant with DS 4 years ago, it was a total no-brainer for me - i wanted a CVS to know definitively and early if i had a genetically normal baby. it all worked out, so i assumed i would do go with the same plan again if i were lucky enough to get pregnant again. well, fast forward 4 years and 3 MCs and discovery of antiphospholipid syndrome (autoimmune clotting disease) etc etc etc and things have changed. the b.eer center, my RI, advises against CVS as immune patients are at a greater risk of having the procedure induce miscarriage. at this point, i don't feel there is any way i can risk this pregnancy by having a CVS, even though the old me swore there was no way i'd ever not get one! there are new prenatal blood tests (materniT21 by sequenom is one of them, and there are a couple others) that can get fetal DNA from a maternal blood sample and test for the 3 trisomies. that test can be done at 10 weeks with results in about 2 weeks. i am so grateful for this option and am scheduled for the test. but there are A LOT of other problems that a CVS or amnio test for that aren't covered by the new blood test. then there is the nuchal test. it seems that a lot of you take great comfort from your nuchal results. but i know there are a lot of false positives (in both the soft markers and the blood work) and i don't want to be unnecessarily stressed. i think there is less risk for immune patients with an amnio, but there are still risks, of course and it just seems so awful to find out so late if there is a devastating problem. i also think a lot can be seen at the 20 week anatomy scan, but again such a very long time to wait. i know there are no guarantees but i'm just trying to think through the options and figure out how to best get the most information as early as possible. i know this is such a hugely personal thing, but i am very interested in how others process the need/desire for definitive answers against the risks of invasive testing. i have my appointment with the genetic counselor this week, which maybe will give me some more insight. but as per usual, i'm more interested in your thoughts if you're willing to share. thank you so much!