Case Study
Calvin and Lisa have been trying to get pregnant for the past two and a half years, and they finally receive the news they have been waiting for. They are expecting! Lisa is elated by the news but starts to worry about the health of their future child. Tay-Sachs has devastated her family. Tay-Sachs is an incurable disease, which appears during the first 3-10 months of a child’s life, progresses to seizures, loss of voluntary movement and ultimately death by the age of 5. She has watched two siblings and four cousins die from this horrible disease in her lifetime, with the oldest living to be just five years old. Since she has a history of this genetic condition in her family, she is curious about the available prenatal testing options. Lisa and Calvin have jointly decided that bringing a child into the world with Tay-Sachs is not an option, and they will terminate the pregnancy if their baby tests positive for Tay-Sachs. When both Lisa and Calvin visit the obstetrician, he tells them there are two procedures that will provide the fetal cells necessary to perform prenatal genetic testing: chorionic villus sampling (CVS) and amniocentesis. CVS can be done 10-12 weeks into the pregnancy while amniocentesis can be done 15-20 weeks into the pregnancy. Both procedures are invasive and have associated risks. Although CVS can be done earlier, it has a significantly higher risk of miscarriage associated with it (approximately 1 in 100, depending on the provider), compared to amniocentesis. However, if the couple finds out the baby has Tay-Sachs, the termination procedure is more straightforward at 12 weeks compared to 20 weeks.
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