Genetic Testing - Jewish?

I went to the Gyn. today and told her we are planning to start trying in the spring. She right away said lets run lab work and because you're Jewish run that block. Next thing I know I'm getting blood taken for genetic testing. Is this protocol? It seemed to happen fast and I didn't question it. I'm sure I woulda gotten tested eventually, but still - is this just automatic when you are thinking about TTC and are Jewish or for other reasons?

Thank you - it kinda freaked me out after, once it sunk in.

Re: Genetic Testing - Jewish?

There was a thread about this a few weeks ago. It seems pretty normal to do the testing and I want it done. In fact, today I left a message for a nurse from my Dr's office to call me. My husband and I are both Eastern European Jews. I believe that there are several tests they will run, but Tay Sachs is the common concern and is very serious.

Re: Genetic Testing - Jewish?

Most doctors, I would imagine, would recommend testing if you and your husband are Jewish. they may even recommend the testing if one of you is adopted and the cultural background is unknown just to be safe.

DH and I are both Jewish and I had genetic testing done before we got married which was way before thoughts of TTC. This is because Jews of Eastern European and Russian descent (Ashkenazi) are known carriers for disorders that are debilitating and often fatal to babies and very young children

The prescription the doctor gave me actually said "Ashkenazi Testing" on it.It tested for: Tay-Sachs disease, Canavan disease, familial dysautonomia, Niemann-Pick (type A) disease, Fanconi anemia (group C), Bloom syndrome, Gaucher disease (the non-neuronopathic type), mucolipidosis type IV, and glycogen storage disease type 1. They also test for cystic fibrosis because it is often included in an Ashkenazi heritage screening panel, since it occurs with the same frequency in European Jews as in members of the non-Jewish Caucasian population (approximately 1/3,000).

If one of the couple is a carrier, the other person gets tested. With Tay Sachs, if they both are carriers, than the child stands a 25% chance of contracting the disease. Tay Sachs is fatal. I am not a carrier for anything, so DH was not tested for anything.

IMO, testing beforehand allows you to make very informed decisions. More often than not, the tests are negative as many of the diseases listed above are rare. I wouldnt be freaked out by your doctors concern. I would be pleased they care enough to ask and take care of you and your future children.

Re: Genetic Testing - Jewish?

Thank you for the explanation, that is very helpful. She did order the Ashkenazi block of tests. I guess it just weirded me out b/c this was my first time seeing her and my first mention of trying to TTC in the near future - it was a little "too real" for me. But I do know I would've had it done eventually anyway, even though DH isn't Jewish.

Thanks again, I feel better about it.

Re: Genetic Testing - Jewish?

I have never heard of those tests. My husband is Jewish and his family is from Russia/Hungaria. I'll have to find out if he is Ashkenazi decent.

Do you know if any of those could cause miscarriages? I have had mutiple m/c with all the testing of a RPL done and no results. All normal. My husband has had gene mutuation testing and came back normal. I'm wondering if this is something we should look into.

Re: Genetic Testing - Jewish?

I'm not sure about the m/c - but I would think it wouldn't have too much of an impact, epecially since its your DH and not you who is Ashkenazi. Plus it sounds like your DH already had some testing to make sure. Have you asked your dr. about it?

Good luck to you, I hope everything works out.

Re: Genetic Testing - Jewish?

THis is normal. My husband had the Jewish panel of tests done because we are both Jewish. He had it done even before we start TTC.