Why is cystic fibrosis decreasing in Massachusetts?

April 17, 2008

Fewer newborns are being born with cystic fibrosis in Massachusetts, a decrease that researchers attribute to increased preconception and prenatal screening for the genetic disease, according to an article published in the Feb. 28 issue of the New England Journal of Medicine.

Fewer newborns are being born with cystic fibrosis in Massachusetts, a decrease that researchers attribute to increased preconception and prenatal screening for the genetic disease, according to an article published in the Feb. 28 issue of the New England Journal of Medicine.

Jaime E. Hale, of the New England Newborn Screening Program in Jamaica Plain, MA., and colleagues report on trends in the incidence of cystic fibrosis diagnosed by newborn screening in Massachusetts from 1999 to 2006.

Between 1999 and 2006, the birth rate in Massachusetts remained stable, with an average of 80,000 births per year, the authors note. However, between 2003 and 2006, a significant decrease in the number of neonates diagnosed with cystic fibrosis was observed compared to the period between 1999 and 2002. In addition, between 2003 and 2006, fewer infants were identified as having the genotype associated with severe cystic fibrosis, DF508/DF508, than in the earlier period.

“We hypothesize that the gradual implementation of the 2001 recommendation by the American College of Medical Genetics, the American College of Obstetricians and Gynecologists, and the National Institutes of Health to offer preconception and prenatal screening to the general population in order to identify carriers of cystic fibrosis might have yielded a decrease in the number of births of infants with DF508/DF508 and births of other children with cystic fibrosis; this decrease would have first been observed in 2003.” (One of the authors reports a relationship to MedPro Communications.)

Hale JE, Parad RB, Comeau AM. Newborn screening showing decreasing incidence of cystic fibrosis. N Engl J Med. 2008;358:973-974.