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September 1994

Diagnosis of Cystic Fibrosis in a Premature Infant via Neonatal Screening

Arch Pediatr Adolesc Med. 1994;148(9):995-996. doi:10.1001/archpedi.1994.02170090109029

The insightful article by Fost,1 published in the November 1993 issue of AJDC, discusses some of the dilemmas associated with neonatal screening for cystic fibrosis. As he points out, screening for this disorder is controversial.2-4 Because of the many mutations of the cystic fibrosis gene (more than 200 have been described), a simple, inexpensive, genetic screening test is not available. Furthermore, there is even controversy as to whether the diagnosis of cystic fibrosis in the asymptomatic neonate would alter the outcome of the disease.4,5

Despite these uncertainties, some hospitals have instituted neonatal screening programs that include tests for cystic fibrosis. We describe herein how such a screening program resulted in the identification and early treatment of a premature neonate with cystic fibrosis. This is, to our knowledge, the youngest (postconceptional age) neonate in whom cystic fibrosis was diagnosed as a result of screening.

Patient Report. The patient

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