Newborn screening for cystic fibrosis.
Early diagnosis of cystic fibrosis (CF) provides an opportunity to improve disease control and prevent early complications. Of patients with CF in the United States, 10% are identified early through newborn screening (including infants born in Colorado, Massachusetts, New Jersey, New York, Wisconsin, Wyoming, and parts of California, Connecticut, Pennsylvania, and Montana). Successful screening programs in these states have stimulated other states to consider adding CF screening to their newborn programs. Additionally, new technology permits expanded screening for numerous genetic conditions. Genetic screening, such as that used most frequently for CF, creates new challenges for the clinician, including atypical disease presentations and carrier detection. In this review, we examine the many advances in CF newborn screening and early care that were reported during the last few years.
Wagener
Jeffrey S
JS
Department of Pediatrics, Pediatric Pulmonary Section, University of Colorado School of Medicine and the Children's Hospital, Denver 80218, USA. wagener.jeff@tchden.org
Sontag
Marci K
MK
Accurso
Frank J
FJ
D003550:Cystic Fibrosis / Q000175:diagnosis* / Q000401:mortality / Q000628:therapy; D006801:Humans; D007231:Infant, Newborn; D015997:Neonatal Screening; D011379:Prognosis; D015996:Survival Rate