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Tuesday, November 14, 2017


Pregnancy Over 40, Genetic Screening and The Fear

I've often wondered about the implications of genetic screening.
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Some couples terminate their pregnancies after finding out that their baby has a genetic defect. However, as this article discusses, some of these problems can be mild and the child could have a normal life. Read more:

A number of couples in Israel were told their fetuses screened positive for Gaucher's disease and decided to terminate their pregnancies. Gaucher's disease ranges from mild and very treatable to severe. An article in the September 19 issue of the Journal of the American Medical Association (JAMA) puts forward a number of questions regarding the appropriateness of some types of genetic screenings.

The authors explain "Carrier screening can reduce the burden of genetic disease, especially in populations in which specific diseases are common. Although generally performed for severe, untreatable disorders, carrier screening for less serious yet prevalent conditions is also possible, but
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there is little information on its implications, even though it is likely to become more common."

Gaucher's disease (GD) is much more common among Ashkenazi Jews compared to other populations. GD includes three diseases, they are all due to deficient activity of a type of enzyme (glucocerebrosidase), leading to an accumulation of its substrate, the fatty substance glucocerebroside (glucosylceramide). A person with Gauther's disease may have an enlarged spleen and liver, malformation of the liver, skeletal disorders and painful bone lesions, serious neurologic complications, swelling of lymph nodes and sometimes adjacent joints, a brownish tint to the skin, anemia, distended abdomen, and low blood platelets. In more severe cases the patient is also more susceptible to infection. A French doctor, Philippe Gaucher, originally described the disease, hence its name.

Screening people for GD is controversial because, for example, type 1 GD usually has no symptoms; it is not severe and is completely treatable. The problem is that carrier screening for GD does not tell you how severe the GD is. Since 1995 Ashkenazi Jews have been offered screening globally and in Israel.

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