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The case described by Allen and colleagues is a good example of the value of molecular testing in the diagnosis of cystic fibrosis in a premature infant. Cystic fibrosis should always be high on the list of diagnoses in an infant who is failing to thrive despite adequate energy intake, and molecular testing can be very helpful when sweat testing is not feasible.
None of these observations constitute an argument for routine, involuntary, population screening of all newborns or premature infants. Decisions about population screening must include much more complex considerations, including psychological and medical benefits and risks, costs, and respect for ethical and legal traditions of informed consent.
Fost N. Diagnosis of Cystic Fibrosis in a Premature Infant via Neonatal Screening-Reply. Arch Pediatr Adolesc Med. 1994;148(9):996. doi:10.1001/archpedi.1994.02170090109030
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