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Posted by on Feb 28, 2008 in Genetics

Newborn Cystic Fibrosis Declining in Massachusetts

Newborn Cystic Fibrosis Declining in Massachusetts


A letter in the latest issue of the NEJM indicates that the number of neonates identified with cystic fibrosis (CF) through neonatal screening declined substantially during the 4-year period from 2003 to 2006 in Massachusetts and was associated with a significant decrease in the number of infants with the most common CF-related genotype, F508/F508.

The authors, from the New England Newborn Screening Program, observed an expected number of infants with CF from 1999 to 2002; however, in 2003, infants identified with the F508/F508 genotype declined significantly, and this decline was maintained during the next 4 years.

The authors conjecture that the gradual uptake of preconception and prenatal screening to identify CF carriers among the general population since 2001 has resulted in fewer births of children with recognized CF-related genotypes. But they advise that the reduced incidence of known CF genotypes will lower the predictive value of newborn screening for CF.

Photo: iStockPhoto

bmartin (1127 Posts)

A native East Tennessean, Barbara Martin is a formerly practicing, board-certified neurologist who received her BS (psychology, summa cum laude) and MD from Duke University before completing her postgraduate training (internship, residency, fellowship) at the Hospital of the University of Pennsylvania in Philadelphia. She has worked in academia, private practice, medical publishing, drug market research, and continuing medical education (CME). For the last 3 years, she has worked in a freelance capacity as a medical writer, analyst, and consultant. Follow Dr. Barbara Martin on and Twitter.