Wider Adult Screening May Mean Fewer Children With Cystic Fibrosis

Incidence fell in area where all couples of reproductive age were evaluated, Italian study found

TUESDAY, Dec. 14 (HealthDay News) -- The number of children born with cystic fibrosis decreases when screening for potential parents who might be CF mutation carriers increases, a new study finds.

CF neonatal screening has been conducted in an area of northeast Italy for many years. Since the 1990s, the area has seen a significant progressive decline in the number of infants born with CF.

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Two different CF carrier detection methods are used in this area. In the western region, carrier testing is offered only to relatives of CF patients or to couples planning in vitro fertilization. In the eastern region, carrier testing is offered to relatives and carrier screening to infertile couple and couples of reproductive age.

Between January 1993 and December 2007, almost 780,000 newborns underwent CF neonatal screening in the area and CF was detected in 195 infants. During that time, there was an average annual decrease in CF birth incidence of 0.16 per 10,000 infants. The rate of decrease was higher in the eastern region (0.24 per 10,000) than in the western region (0.04 per 10,000).

There were more than 87,000 carrier tests performed in the eastern region, and 3,650 carriers and 82 carrier couples were identified. In the western region, almost 2,600 carrier tests were performed and 314 carriers and 9 carrier couples were identified. The carrier rate (number of carriers/number of tests) was 1/23.8 in the eastern region and 1/8.1 in the western region.

"Although CF birth incidence decreased over time in the whole area under study, 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 Cystic Fibrosis Center at Verona Hospital, and colleagues. "The overall negative trend in northeastern Italy is mainly due to a reduction of CF births in the eastern region."

The study appears in the Dec. 16 issue of the Journal of the American Medical Association.

More information

The U.S. National Heart, Lung, and Blood Institute has more about cystic fibrosis.

-- Robert Preidt