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Increased testing may mean decreased cases of cystic fibrosis

Category: DNA, Paternity and Genetic testing

Testing for cystic fibrosis (CF) in adults who are planning for parenthood and who may be genetically predisposed to the condition may reduce the number of children born with the inherited disease, researchers find.

In a study published in the December issue of the Journal of the American Medical Association, researchers noted how performing CF screening in Italy over a 14-year span substantially reduced the number of infants born with the lung disease, HealthDay News reports.

Between 1993 and 2004, more than 87,000 carrier tests were performed on relatives of CF patients and couples of reproductive age in eastern Italy, leading to the identification of 3,650 individuals and 82 couples who carried genetic mutations.

During this time span, the region experienced a decrease in average annual CF birth incidence of 0.24 per 10,000.

In Italy's western region, where the carrier testing was less intensive, researchers found the decreased incidence of the disease among infants to be 0.04 per 10,000.

"The number of new CF cases identified each year decreased only slightly in the western region, with its limited carrier testing, and decreased significantly in the eastern region, with its intensive screening of couples of reproductive age," wrote Dr. Carlo Castellani, of the CF Center at Verona Hospital.

According to the Mayo Clinic, CF is a life-threatening disorder that causes an accumulation of thick, sticky mucous in the lungs.


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