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Genetic Birth Defects

There is a higher incidence of Tay-Sachs disease among Eastern European Jews and French Canadians. Tay-Sachs disease is caused by a deficiency in an enzyme called hexosaminidase which plays an important role in the body's processing of a fatty acid, gangliosides. Symptoms, like blindness, deafness, irritability, seizures, inactivity, and delayed development, usually appear in babies at three to six months of age, and the child usually dies before reaching the age of three. One out of every 2,500 Ashkenazi Jews is diagnosed with Tay-Sachs, which can be identified with amniocentesis and chorionic villus sampling.

All of these diseases are the product of autosomal recessive inheritance. All of our genes come in pairs, with one from each parent. To develop an autosomal recessive disease, both genes in the pair must be abnormal in some way, which means that each parent needs to contribute an abnormal gene. If you and your partner are both carriers of a genetic disorder, your baby has a one in four chance of developing the disorder. If your baby inherits only one abnormal gene, they will be a carrier, and unaffected by it themselves. You and your partner can be tested for the abnormal gene and if you both test positive, your baby can be tested for the disorder prenatally or shortly after birth.

Your chances of being a carrier for any of these diseases is slight, and your baby's chances of contracting them are even slimmer, but if your ethnic background or family history suggest that you should be tested, go ahead. Going into genetic counseling, you need to decide how far you want to go with the testing, what types of decisions you're willing to consider, and what information you need. Most likely, the process of genetic counseling and testing will do nothing but provide you with the information you most want-welcome reassurance.

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Cord Blood Registry
March of Dimes
Susan G. Komen

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