Inconclusive Diagnosis of Cystic Fibrosis After Newborn Screening

Y. Ooi, Chee; Castellani, Carlo; Keenan, Katherine; Avolio, Julie; Volpi, Sonia; Boland, Margaret; Kovesi, Thomas; Bjornson, Candice; Chilvers, Mark; Morgan, Lucy; van Wylick, Richard; Kent, S.; Price, April; Solomon, Melinda; Tam, Karen; Taylor, Louise; Malitt, K.-A.; Ratjen, Félix; R. Durie, Peter; Gonska, Tanja

doi:10.1542/peds.2014-2081

Public

Inconclusive Diagnosis of Cystic Fibrosis After Newborn Screening

Published in PEDIATRICS • May 11, 2015

Authors:

Chee Y. Ooi

Carlo Castellani

Katherine Keenan

Abstract

OBJECTIVES: To prospectively study infants with an inconclusive diagnosis of cystic fibrosis (CF) identified by newborn screening (NBS; "CF screen positive, inconclusive diagnosis" [CFSPID]) for disease manifestations. METHODS: Infants with CFSPID and CF based on NBS from 8 CF centers were prospecti...

Subject

Medicine

Cystic fibrosis

Newborn screening

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