Cystic Fibrosis Diagnosis in Newborns, Children, and Adults

Carlo Castellani, MD; Barry Linnane, MB, BCh, BAO, DCH, MRCPI, MRCPCH, MD; Iwona Pranke, PhD; Federico Cresta, MD; Isabelle Sermet-Gaudelus, MD, PhD; Daniel Peckham, MD

Disclosures

Semin Respir Crit Care Med. 2019;40(6):701-714. 

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Clinical Trials

The above studies paved the way for two, pseudorandomized, controlled clinical trials, conducted in the 1980s and reported in the 1990s.[2,9,64] Chatfield et al, screened infants on alternate weeks, and although successful at identifying 55 infants with CF early, after 4 years no substantive advantage was demonstrated in nutritional or respiratory outcomes when compared with the 44 children who presented clinically.[64] In contrast, in the Wisconsin Cystic Fibrosis Neonatal Screening Project, Farrell et al, demonstrated a clear nutritional benefit in the 56 infants identified through CF NBS compared with 40 infants presenting clinically.[9] The study was not without controversy. The generation of an intervention and control cohort involved screening all infants but suppressing the results of the randomly selected control group for 4 years. Questions regarding the ethics of such an approach forget that, at the time the studies were conceived and conducted, the potential benefit of an early diagnosis was far from convincing.[6,61,65] Indeed the Wisconsin group reported worse respiratory outcomes in the screened cohort, with evidence of more advanced lung disease on CXRs compared with the control cohort, possibly as a consequence of earlier acquisition of P. aeruginosa. The inauspicious results of the trials were likely influenced by the lack of frequent attendance at specialist CF centers, and infection control policies that were suboptimal by today's standards.[28] The Wisconsin study was especially well designed, with rigorous follow-up, and its original and subsequent findings have proved most influential in the establishment and expansion of NBS around the world. Important additional information influencing CF NBS expansion has come from epidemiological studies and registry data.[20,25–27,43,66–69]

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