Guide on Having Baby

Wondering if you and your partner might be good candidates for genetic counseling? If you answer yes to one or more of the following questions, it’s an option you might wish to consider.

Do you have a genetic disorder?

Does your partner have a genetic disorder?

Are you and your partner close relatives (for example, first cousins)?

Do you, your child, or a close family member have a birth defect?

Do you, your child, or a close family member have a medical condition that has not been thoroughly diagnosed?

Are you concerned that you may be a carrier of a genetic disorder which runs in your ethnic group (for example, Tay-Sachs, sickle-cell anemia, or thalassemia)?

Have you had three or more miscarriages and/or a stillbirthof unknown cause?

Would you and your partner like more information about your chances of giving birth to a baby with a genetic disorder or birth defect?

There have been some remarkable advances in the field of genetic testing in recent years. Here are just a few examples of what genetic testing can do for you if you are thinking about starting a family:

¦ Preimplantation testing: Genetic technologies at the molecular level allow the identification of specific mutations known to cause genetic disease. These technologies now make it possible to detect genetic diseases in offspring even as early as before implantation (such as when used as an adjunct to IVF). If multiple embryos are conceived in the laboratory, tests can allow only the embryo(s) without the disease to be implanted. This is a better alternative than delaying the diagnosis until CVS or amnio is done and then facing the potential need for abortion.

¦ Carrier testing for members of a particular ethnic group: Couples of Jewish descent may wish to undergo an Ashkenazi DNA carrier test panel, an all-in-one test that costs approximately $2,300 per person and that can predict with 95 percent to 99 percent accuracy whether a particular person is a carrier for diseases such as Tay-Sachs, cystic fibrosis, Gaucher’s disease, Niemann-Pick (Type A), Bloom Syndrome, Familial Dysautonemia, Fanconi Anemia Group C, Mucolipidosis Type IV, and Canavan disease, all of which tend to be problematic for Jews of Eastern European descent. The chances that a particular person of Jewish descent carries a gene for one of these diseases ranges from 1 in 15 for Gaucher’s disease to 1 in 122 for Mucolipidosis Type IV. The chances of being a carrier of at least one of these mutations are approximately 10 percent for Ashkenazi Jews.

¦ Carrier testing for cystic fibrosis: A case can be made for giving all couples the option of being tested for cystic fibrosis — not just those of certain ethnic groups or who have one or more family members with the disease. Cystic fibrosis is carried by 1 in 25 Caucasians and 1 in 65 African Americans. What makes this disease so challenging to predict is the fact that there are more than 600 different mutations worldwide that are known to cause the disease. Although it’s not yet possible to test for all of these mutations, couples considering pregnancy can be tested for 87 different mutations for just $300 per person. Depending on the person’s ethnic background, this test will detect 72 percent to 97 percent of carriers of this relatively common genetic disorder.

¦ Carrier testing for fragile X syndrome: A similar case can be made for offering to test all women who are planning a pregnancy for fragile X syndrome — a significant cause of mental retardation. Fragile X is carried by 1 in 250–400 women, making it about as common as the risk of a 35-year-old woman having a baby with Down syndrome. Fragile X syndrome affects 1 in 1,000–1,200 males and 1 in 1,500–2,000 females. At this point, testing for both female carriers (fragile X is almost always inherited from the mother) and affected fetuses is possible. Though traditionally considered routine only for those with family histories of fragile X or mental retardation in which the fragile X status was unknown, carrier testing is now available to all individuals and costs approximately $350 per person. Considering the relative frequency with which the fragile X chromosome is carried in the general population, you might want to talk to a genetic counselor or your ob/gyn about being tested.

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