[Cystic fibrosis newborn screening: management issues].
Newborn screening (NBS) enables detection of pre-symptomatic cystic fibrosis (CF) patients. A major issue confronting the multidisciplinary team is that of implementing adequate follow-up care, thereby preventing nutritional and pulmonary complications. NBS may also identify newborns who do not fulfil the CF diagnosis criteria; the clinician and family are faced with the diagnostic and prognostic dilemma of atypical CF. Published recommendations are mainly a consensus of expert opinions on follow-up modalities and treatment to help families and primary care physicians, thus harmonizing current practices among CF care specialists. Well-designed clinical trials for these young children focusing on nutritional and pulmonary function are of crucial importance. Indeed, evaluation of pulmonary function is hampered by the absence of accurate, sensitive, reproducible outcome parameters. The European Cystic Fibrosis Society Clinical Trials Network is actively stimulating clinical research on these very young patients.
Association Française pour le Dépistage et la Prévention des handicaps de l'Enfant (AFDPHE), 38 rue Cauchy, 75015 Paris, France. anne.munck@rdb.aphp.fr
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D003550:Cystic Fibrosis / Q000175:diagnosis*; D006801:Humans; D007231:Infant, Newborn; D015997:Neonatal Screening