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Carrier screening for cystic fibrosis offered
By Julie Buckles

Thousands of pregnant women in the U.S. will soon learn from their physicians about the gene test for carriers of cystic fibrosis. New guidelines on the test, which identifies carriers of the mutated cystic fibrosis gene, were sent along with educational materials to obstetricians and gynecologists in September.

This booklet is published by ACOG

Under the guidelines, written by the American College of Obstetricians and Gynecologists, physicians should offer screening to Caucasian women who are pregnant and Caucasian couples considering having children. Screening should also be offered to individuals with a family history of cystic fibrosis and reproductive partners of individuals who have cystic fibrosis. The College also says that the test should be available to couples in other racial and ethnic groups, if they wish to have it, even though they are are at lower risk.

In the U.S., cystic fibrosis is one of the most common inherited disorders for people of Northern European descent. One in 28 Caucasians is a carrier of a defective cystic fibrosis gene.

To develop cystic fibrosis, an individual must inherit a defective copy of the CF gene from each parent. Cystic fibrosis causes the body to produce thick mucus that affects the respiratory, digestive and reproductive systems. The carrier testing recommendations have been in the works since 1989, when the gene for cystic fibrosis was identified.

See related GNN article
»Test Case for Genetic Testing: Population-based screening for cystic fibrosis mutations is coming

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