Cystic Fibrosis Testing in Italy Linked to Lower Incidence

Study compared rates of cystic fibrosis in areas with limited and wider testing for carriers
By Eric Metcalf
HealthDay Reporter

TUESDAY, Dec. 15 (HealthDay News) -- Widespread availability of carrier testing for cystic fibrosis in an Italian region was associated with a decline in birth rates of infants with the condition, according to research published in the Dec. 16 issue of the Journal of the American Medical Association.

Carlo Castellani, M.D., of the Verona Hospital in Italy, and colleagues analyzed data on cystic fibrosis birth incidence in northeastern Italy from 1993 to 2007, comparing trends in two regions. In one region, cystic fibrosis carrier testing is encouraged in relatives of cases and couples undergoing in vitro fertilization, but not other individuals or couples without family history. In the other region, screening is offered widely to those in the general population.

The researchers found that the birth rate decrease was greater in the region with more testing (decrease rate, 0.24 versus 0.04), and the growth in the number of screened carriers was significantly associated with the fall in cystic fibrosis birth incidence.

"Outcomes over time are greatly improved but the personal and financial tolls continue to make cystic fibrosis a fearsome disease. Informed of the one in four chance of having children with cystic fibrosis, the majority of carrier couples in northeastern Italy contemplating parenthood chose either to avoid or, in some cases, to terminate pregnancies," write the authors of an accompanying editorial.

A study co-author reported receiving a speaking honorarium from Nuclear Laser Medicine, and the editorial authors reported relationships with a number of medical companies or associations.

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