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Data show a decline in cystic fibrosis since introduction of prenatal carrier screening
Date:2/27/2008

and UMMS, are confident that the decrease is realnot an aberration of the screening program and not a normal fluctuation.

Clinical researchers have understood that a major challenge of CF newborn screening is developing treatments to maintain the health of relatively asymptomatic newborns. Our recent observations that fewer infants are being born with CFparticularly fewer infants with a severe genotypeprovides an additional challenge to researchers developing new treatments or using population data for trend analyses, says Anne Comeau, PhD, associate professor of pediatrics at the University of Massachusetts Medical School and deputy director of the NENSP. We should not fool ourselves into thinking that our treatments are working better than they are if the treatment may be tested on a population that was already bound to be more healthy.

The authors hypothesize that the gradual implementation of the recommendation to offer preconception and prenatal screening in order to identify carriers of CF might have yielded a decrease in the number of births of infants with CF, particularly the type that causes the most severe disease.

Our data cannot distinguish the reason for the reported decrease, notes Richard Parad, MD, MPH, a newborn medicine specialist at Childrens Hospital Boston and Brigham and Womens Hospital, who co-authored the study with Jaime Hale of NENSP and Comeau. Carrier couples may have chosen not to conceive, or they may have resorted to donor egg or sperm or to pre-implantation genetic diagnosis, or they may have decided to terminate affected pregnancies.

CF affects all races, and is the most common autosomal recessively inherited disorder in Caucasians (about 1/3000 births). Fifty years ago, most children with CF died before they reached school age, but today, with early diagnosis and improved treatment, the median survival is 36 years.


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Contact: Mark Shelton
mark.shelton@umassmed.edu
508-856-2000
University of Massachusetts Medical School
Source:Eurekalert

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