Genetic Screening

redmond_steph · July 2013

I'm sure I read a posting on here the other day about someone doing their prenatal screening that covered a lot of disorders, but now I can't find it.
I'm going to see my OB tomorrow and wanted to ask about it as the only test I was offered screened for Down's syndrome, trisomy 18, and neural tube defects.
Does anyone know what the more extensive test is called?

Tigger & pooh · July 2013

There is the maternti21 but you have to be high risk to qualify I believe. There is also the cvs and amnio but unless you have risk factors they won't suggest them.

BootsOrHearts · July 2013

There are lots of tests. Things that screen for cystic fibrosis, the various chromsomal issues, spina bifida, etc, etc.

Ask your doctor which things you need to be concerned about given your age, family background, race, etc. For example, if you're of Jewish descent, you need to worry about Tay-Sachs, if you're of African descent, you need to be concerned about Sickle cell, etc.

Unfortunately there's no one test that screens for everything.

golfingdarwinfish · July 2013

Counsyl tests for > 100 genetic disorders, including the most common ones that have their own panels (Fragile X, CF, Tay-Sachs, and other disorders that are common in specific heritages).

There are also lots of other panels, but you would have to talk to your ob or a genetic counselor to narrow in on what you are testing for, etc..

ETA: Also, to clarify, Counsyl checks to see if you are a carrier for >100 genetic diseases; it does not screen the fetus. If you test positive for a specific disease your partner should also be tested. We were both tested about a year before we considered TTC.

redmond_steph · July 2013

Thanks everyone, the counsyl test was the one I was thinking of, although I didn't realize it was screening me rather than the fetus. I possibly haven't been offered it because I don't think I would be considered high risk, or alternatively it may not be offered in Canada.

esf60 · July 2013

redmond_steph:
Thanks everyone, the counsyl test was the one I was thinking of, although I didn't realize it was screening me rather than the fetus. I possibly haven't been offered it because I don't think I would be considered high risk, or alternatively it may not be offered in Canada.

Being high risk for a trisomy issue and being a carrier for a genetic disease are two different things. Hard to know if you're high risk for a genetic disease if you don't know if you or your husband are carriers for it. It's worth finding out, if only for peace of mind.

golfingdarwinfish · July 2013

redmond_steph:
Thanks everyone, the counsyl test was the one I was thinking of, although I didn't realize it was screening me rather than the fetus. I possibly haven't been offered it because I don't think I would be considered high risk, or alternatively it may not be offered in Canada.

Honestly, Counsyl may not have launched in Canada. You can certainly ask your doctor about it though. In the US you do not have to be considered high risk to opt into Counsyl - for me, genetic screening was a requirement before I even considered trying to conceive.

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