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June 17, 1983

Screening for Cystic Fibrosis

Author Affiliations

The Johns Hopkins University School of Medicine Baltimore

JAMA. 1983;249(23):3175. doi:10.1001/jama.1983.03330470017015

To the Editor.—  We agree with Sepe and associates (1982;248:1733) that the development of new technology permitting screening for such disorders as neural tube defects and cystic fibrosis (CF) will lead to an increase in the need for genetic services. There is a potential danger, however, that the availability of screening technology might lead to widespread neonatal CF screening before the benefits-risks of such a program have been fully evaluated. In some European countries, meconium screening programs are now operational, and dried-blood spot immunoreactive trypsin assays for newborn CF screening are under active laboratory and field evaluation.1 Neonatal screening is generally recommended for disorders in which treatment is effective only when started before the age at which a clinical diagnosis is usually made. There are no data to support treatment for patients with CF before the onset of clinically apparent pulmonary disease. However, in a review of 194 patients