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Who should apply for genetic counseling

"Any woman, if she fears that a child may have a congenital defect or genetic disease, should seek genetic counseling," says Ann Garber, a hygienist, genetic medicine consultant at Sedars-Sinai Hospital in Los Angeles.
Most often, women over the age of 35, for whom the risk of having a child with Down syndrome is somewhat increased, seek genetic counseling. But 35 is not a magic number. “It’s just the age for which the risk of a child with a deviation from the norm is higher than the danger introduced 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 the age of 26, then you need to talk with a specialist who will objectively figure out with you what the degree of risk is for you and what are the dangers and limitations of prenatal diagnostic studies themselves. "
Before you decide, and this is a very personal matter, the decision must be based on your individual circumstances, read the statistics. A woman who finally became pregnant after seven years of trying may find that the risk of miscarriage during amniocentesis is too great for her.
Another woman who is not threatened with infertility may find the same small risk of miscarriage quite acceptable for himself, if we measure it with the possibility of having a child with a congenital defect.
Consultation is also recommended for spouses, if any of them have cases of genetic diseases in the family. Women who had one or more miscarriages, mothers who lost children in infancy, as well as women who believe that they could be exposed to harmful substances that could affect the fetus should also be consulted.
“In the ideal case, says Dr. Garber, women for whom for some reason the danger of having a child with a hereditary disease is very real should be consulted before they become pregnant.” In some cases, to create a complete picture, it is necessary to study the history of family diseases, and only after that can we draw final conclusions; sometimes it takes months. ”
Visiting a consultant does not always entail a lot of research. The doctor will ask you about what the family members of both spouses were ill with, about how the childbirth took place, and 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 sought 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 blood tests and the 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 didn’t 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 from its shoulders. ”