Genetic Testing: Do It Before You Do It

I’m really disappointed in my friend Barb. Already three months pregnant with her first child, she decided to get her genetic testing done. She tested positive for Canavan’s Disease. Now, her husband has to have the test to make sure he doesn’t carry that gene too. If he does, well, if you don’t already know about the disease, you can read about Canavan for yourself. I guess I’m disappointed in her because, as a college educated woman in her late thirties, I expected more from her as she prepared for pregnancy.

Oh, I suppose I’m being too judgmental here. I’m one of those people who do a whole bunch of research before I get myself into something like a pregnancy. I’m surprised when others do not behave similarly. Before we tried to get pregnant for the first time, I went to my nurse midwife for a full work up. I told her I wanted to start trying for a baby, and asked her what I needed to do to prepare. She told me I should go off the pill for at least three months and start taking prenatal vitamins. Because Gadget Man and I are Jewish and of Ashkenazi decent, she also recommended genetic testing. Genetic testing is often recommended pre-pregnancy for certain ethnicities that are potential carriers for diseases such as Canavan, Tay-Sachs (Jews of Ashkenazi descent) and Sickle-Cell (Blacks). (French Canadians, Cajuns, and Irish Americans are also at risk for Tay Sachs). Thankfully, our health insurance paid for the test. But even if they didn’t, the few hundred dollars it cost is a small price to pay compared to the medical expenses we would have to endure (not to mention the emotional hardship) if we had a child with Tay-Sachs, Canavan, or any number of diseases my ethnicity is known to carry.

I suppose I can’t blame Barb. The blame really lies with her ob/gyn. When a married woman (or a woman of a certain age) goes to her doctor for her annual, that doctor should ask whether his patient plans to have children in the future. Aside from genetic testing, there are many other life changes a woman should make before becoming pregnant. For example, there are many prescription drugs to avoid when pregnant. Also, folic acid is most beneficial at the very beginning of a pregnancy, before any such pregnancy is apparent. Indeed, it has been suggested that all fertile women take folic acid, just in case. Isn’t it a doctor’s duty to make sure we, as female patients, are well-informed about our bodies and the choices available to us? The medical community in our country is far more concerned with treating medical problems than preventing them in the first place. As for Barb’s baby-on-the-way, all we can do is pray that “daddy” is not a Canavan carrier too.

This post can also be found at the cool site


One Response to “Genetic Testing: Do It Before You Do It”

  1. Pregnancy and more Says:


    Good read! Thank you!

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