- Title
- Differences in outcomes between early and late diagnosis of cystic fibrosis in the newborn screening era
- Creator
- Coffey, Michael J.; Whitaker, Viola; Ooi, Chee Y.; Gentin, Natalie; Junek, Rosie; Shalhoub, Carolyn; Nightingale, Scott; Hilton, Jodi; Wiley, Veronica; Wilcken, Bridget; Gaskin, Kevin J.
- Relation
- Journal of Pediatrics Vol. 181, Issue February 2017, p. 137-145
- Publisher Link
- http://dx.doi.org/10.1016/j.jpeds.2016.10.045
- Publisher
- Mosby
- Resource Type
- journal article
- Date
- 2017
- Description
- 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, Australia, from 1988 to 2010 was performed. LD-CF was defined as NBS-negative (negative immunoreactive trypsinogen or no F508del) or NBS-positive but discharged following sweat chloride < 60 mmol/L. Cases of LD-CF were each matched 1:2 with patients with NBS-CF for age, sex, hospital, and exocrine pancreatic status. Results: A total of 45 LD-CF cases were identified (39 NBS-negative and 6 NBS-positive) with 90 NBS-CF matched controls. Median age (IQR) of diagnosis for LD-CF and NBS-CF was 1.35 (0.4-2.8) and 0.12 (0.03-0.2) years, respectively (P <.0001). Estimated incidence of LD-CF was 1 in 45 000 live births. Compared with NBS-CF, LD-CF had more respiratory manifestations at time of diagnosis (66% vs 4%; P <.0001), a higher rate of hospital admission per year for respiratory illness (0.49 vs 0.2; P = .0004), worse lung function (forced expiratory volume in 1 second percentage of predicted, 0.88 vs 0.97; P = .007), and higher rates of chronic colonization with Pseudomonas aeruginosa (47% vs 24%; P = .01). The LD-CF cohort also appeared to be shorter than NBS-CF controls (mean height z-score −0.65 vs −0.03; P = .02). Conclusions: LD-CF, despite NBS, seems to be associated with worse health before diagnosis and worse later growth and respiratory outcomes, thus providing further support for NBS programs for CF.
- Subject
- cystic fibrosi; diagnosis; screening
- Identifier
- http://hdl.handle.net/1959.13/1355723
- Identifier
- uon:31519
- Identifier
- ISSN:0022-3476
- Language
- eng
- Full Text
- Reviewed
- Hits: 37996
- Visitors: 12528
- Downloads: 940
Collections
Goal 3: Good Health and Well-Being
| Thumbnail | File | Description | Size | Format | |||
|---|---|---|---|---|---|---|---|
| View Details Download | ATTACHMENT01 | Author final version | 794 KB | Adobe Acrobat PDF | View Details Download |