hey there -it is genetic and there are certain ppl who are in higher risk. I dont think they routinely screen for this in 12 wk tests. I am in a higher risk cat and I had the tests done to see if I am a carrier b4 i TTC, it involved taking a fair amt of blood and some blood screening tests. Are you in a high risk category for Tay Sachs? If so suggest you chat to your Dr.
I dont have testing at 12 weeks, but i'm almost definetly sure they do not test for Tay Sachs.
Tay Sachs is a genetic disorder, which results in the death of the child, normally around 4 years i think.
It is predominetly found in the Ashkenazi Jewish community, and if you are considered high risk for Tay Sachs (i.e. Jewish), you are normally offered testing in high school or prior to marriage. I didn't have testing done, as DH was tested at school and is not a carrier, so it wouldn't matter if i was (autosomal recessive gene, so it needs both parents to be carriers for the offspring to be affected).
If you are not Jewish, or are Sephardi, then you chances of being a carrier are so remotely small, that basically you won't be tested unless there is something wrong with your child, and they feel a full genetic screening might be useful.
They tend to only do genetic testing if you are high risk because of 1) cost involved and 2) stress and upset involved in waiting for results etc.
Do you think you need testing for Tay Sachs? Is there a history in either you partners or your familys history? If yes, i suggest you contact a genetic councelling unit and your local hospital.
if he isn't a carrier then you don't have to worry
Even if you are Jewish, unless there is a history of it within the family, i wouldn't worry. It is found predominetly from people whose families came from Eastern Europe (Lithuania, Russia, Poland, Ukraine), and even then, only mainly from smaller shtetl's, and moreso where there was marriage between distant relatives (1st/2nd cousins and so on).
but one again, you need both parents to be a carrier, and your chances at being higher risk are still quite small. My g/parents are from Germany, hence part of the reason i didn't bother to be tested. But if my DH hadn't been tested, one of us might have chosen to do it before marriage.
You mainly find people doing it in my community (ultra orthodox), as there is a higher risk there.
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