Do I have Tay-Sachs Disease?

Q: I'm worried that my husband and I may both be carriers for Tay-Sachs disease. What are the chances our baby could have it?

A: The gene for Tay-Sachs disease (an incurable, life-threatening nervous system disorder) is found most often among men and women of Eastern European Jewish backgrounds. It's a recessive gene, which means you both must have the gene for your baby to have the condition.If it turns out that both you and your husband are carriers (which is rare), your baby has a 25 percent chance of having the disease. If neither or just one of you is a carrier, your baby will not inherit Tay-Sachs.If you're concerned, the best thing to do is have a carrier screening -- a blood test that checks your DNA to see whether you or your partner carry the Tay-Sachs gene. If you get tested before you try to conceive, you'll either have reassurance that you are both not carriers (one less thing to worry about) or can come up with a game plan if it turns out that you are. Although this situation is rare, most couples do one of the following: • Get pregnant naturally, and follow up with diagnostic tests during pregnancy, like chorionic villi sampling (CVS) or amniocentesis, which can determine whether or not your baby has the disease. • Get pregnant using assisted reproductive technology. With a variation of in vitro fertilization (IVF) called preimplantation genetic diagnosis (PGD), scientists can screen embryos in the lab and only implant healthy ones without genetic abnormalities that cause Tay-Sachs.• Get pregnant using donor eggs or sperm or consider adoption.Talking with a genetic counselor can help you weigh these decisions to come up with the best choice for you.

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