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A Plea for Being Prepared

I recently was introduced to a young woman at a party.When she heard that I am a genetic counselor, she said, “What a coincidence, I need to speak with a genetics expert! You see, I am engaged and my fiancé was tested for Tay-Sachs but I think we may need to do some more genetic testing before we get married.” Feeling good that she met me at the right time, I told her to set up an appointment at our office. “Great,” she replied, “Because we are getting married in 2 weeks and I would like to know the results by the wedding date. “ I tried to dissuade the young woman from getting tested now, since the results would not be back in time for the wedding, and she did not need the extra stress.  I told her to enjoy her wedding and contact me before contemplating her first pregnancy. “But we want to get pregnant the night of the wedding,” she replied.

This was not the first time I have heard of this.  In some sects of Orthodox Judaism and other religions, couples decide against contraception; they believe that family planning is up to God.  And sometimes, even couples who do use methods of birth control may be surprised to get pregnant.  My point is, whether or not you take contraceptive measures, there is always a chance you could get pregnant.   And this could have added implications if the couple is at increased risk for offspring with a genetic disease.

I am not trying to scare you; I am merely trying to set the stage for my position on carrier screening.  If a couple finds out that they are both carriers of a recessive disease such as Tay- Sachs, this means that there is a 1 in4 (or 25%) chance of having an affected child with each pregnancy. Wouldn’t it be better for such a couple to know that they are at risk before getting pregnant? Instead of achieving a pregnancy naturally and taking that 1 in 4 chance, a carrier couple may decide to do in vitro fertilization with pre-implantation genetic diagnosis (what genetics people call “IVF with PGD”). Other couples may opt to use an egg or sperm donor (who is not a carrier of the same disease), and others might decide to adopt or not have children at all. My point is that if a couple knows before getting pregnant, they have more reproductive options available to them.

And what about those couples who do not plan their pregnancies to the day? For instance, consider the woman who decides against using contraception on her wedding night, or the couple whose methods do not do the trick. Those people (ie, could be anyone!) ought to know their carrier status sooner rather than later. It’s always better to be prepared than to find out during a pregnancy when difficult decisions may be on the table, or even later with the birth of an affected child.  So remember that you cannot plan everything in life-but for those things that you DO have control over (like going to get screened), why wait?

Click here for a short PSA on the importance of getting tested

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