Differences in Outcomes between Early and Late Diagnosis of Cystic Fibrosis in the Newborn Screening Era

• Published in: The Journal of pediatrics Vol. 181; pp. 137 - 145.e1
• Main Authors: Coffey, Michael J., BMed, MD, Whitaker, Viola, Gentin, Natalie, MBBCh, FRACP, Junek, Rosie, DCH, Shalhoub, Carolyn, BSc(Hons), GradDip(Counselling), Nightingale, Scott, BMed(Hons), MClinEpid, FRACP, Hilton, Jodi, BMed, FRACP, Wiley, Veronica, PhD, Wilcken, Bridget, MD, FRACP, Gaskin, Kevin J., MD, FRACP, Ooi, Chee Y., MBBS, FRACP, PhD
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 01.02.2017
• Subjects: Age Factors; Australia; Cystic Fibrosis - diagnosis; Cystic Fibrosis - mortality; Cystic Fibrosis - therapy; cystic fibrosis transmembrane conductance regulator; Databases, Factual; Delayed Diagnosis - adverse effects; Disease Progression; Female; growth; Hospitalization - statistics & numerical data; Humans; Infant, Newborn; lung function; Male; Neonatal Screening - methods; New South Wales; Outcome Assessment (Health Care); Pediatrics; Prognosis; Respiratory Function Tests; Retrospective Studies; Risk Assessment; Severity of Illness Index; Sex Factors; Survival Rate; Forced expiratory volume in 1 second percentage of predicted; New South Wales; PS; CF transmembrane conductance regulator; Immunoreactive trypsinogen; IRT; CFSPID; SC; Body mass index; lung function; LD-CF; Newborn screening; Pancreatic sufficient; MI; NBS; BMI; CF; CF screen positive inconclusive diagnosis; Cystic fibrosis; LD-NBS-pos; Late diagnosis newborn screen positive; LD-NBS-neg; Pancreatic insufficient; Sweat chloride; Late diagnosis newborn screen negative; NBS-CF; NSW; Late diagnosis of cystic fibrosis; cystic fibrosis transmembrane conductance regulator; Newborn screen diagnosed CF; PI; growth; FEV1; Australia; CFTR; Meconium ileus

Objectives To evaluate children with cystic fibrosis (CF) who had a late diagnosis of CF (LD-CF) despite newborn screening (NBS) and compare their clinical outcomes with children diagnosed after a positive NBS (NBS-CF). Study design A retrospective review of patients with LD-CF in New South Wales, A...