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Who should seek genetic counseling


“Any woman who fears a baby may have a birth defect or a genetic disease should seek genetic counseling,” says Ann Garber, a hygienist, genetic diseases consultant at the Cedarz Sinai Hospital in Los Angeles.
Most often, women over 35 years old seek genetic counseling, for whom the risk of having a child with Down syndrome is slightly increased. But 35 is not a magic number. “It's just an age for which the risk of having a child with abnormalities is higher than the danger brought by the research itself, explains Dr. Garber. If you are 32 years old and you are worried about the unborn child, if you have a girlfriend who gave birth to a child with Down syndrome at 26, then you need to talk with a specialist who will objectively understand with you, what is the degree of risk for you and what are the dangers and limitations of prenatal diagnostic studies themselves. ”
Before you make a decision, which is a very personal matter, the decision should be based on your individual circumstances, read the statistics. A woman who has finally become pregnant after seven years of trying may think that the risk of miscarriage during amniocentesis is too much for her.
Another woman who is not in danger of infertility may find this very small risk of miscarriage quite acceptable for herself, if you compare her with the possibility of having a baby with a birth defect.
Consultation is also recommended for spouses if any of them have cases of genetic diseases in the family. You should also consult women who have one or more miscarriages, mothers who have lost babies, as well as those women who believe that they could be exposed to harmful substances that could affect the fetus by the nature of their work.
“In the ideal case, says Dr. Garber, women who, for whatever reason, have a real risk of having a baby with a hereditary disease, should seek counseling before they become pregnant. In some cases, to create a complete picture, it is necessary to study the history of family diseases, and only then can final conclusions be drawn; sometimes it takes months. ”
A consultant visit does not always entail a lot of research. The doctor will ask you about how the family members of both spouses were sick, about how the birth took place, and will help the spouses to assess the likelihood of having a child with a birth defect. Studies have shown that prior counseling can eliminate the need to undergo special studies, in particular amniocentesis.
When Louise Petrillo became pregnant, she and her husband went for genetic counseling because Louise had an aunt with Down Syndrome.
“The consulting doctor told us that the degree of risk, which can be judged by a blood test and a history of family diseases, is only slightly higher than usual, and we stopped worrying about this, recalls Louise, who gave birth to a normal, healthy girl. We did not have the feeling that it was necessary to confirm the absence of real danger by further research. When we left the doctor’s office, we felt as if the mountain had fallen off our shoulders. ”