Neonatal screening programme for CF: Results from the Irish Comparative Outcomes Study (ICOS)
Catherine Fitzgerald1, Barry Linnane2,3, Sherly George4
1School of Public Health, Physiotherapy and Sports Science, University College Dublin, Dublin, Ireland.
Insights
Newborn screening (NBS) for cystic fibrosis (CF) in Ireland improved child growth and reduced hospitalizations for infections. NBS also delayed Pseudomonas aeruginosa acquisition compared to clinical diagnosis in CF patients.
Area of Science:
- Pediatrics
- Genetics
- Public Health
Background:
- Newborn screening (NBS) for cystic fibrosis (CF) was implemented in Ireland in July 2011.
- A comparative historical cohort study was designed to assess clinical outcomes before and after NBS implementation.
Purpose of the Study:
- To evaluate the impact of NBS on clinical outcomes in children with CF.
- To compare growth, infection acquisition, and hospitalization rates between clinically diagnosed and NBS-detected CF patients.
Main Methods:
- A cohort of 232 children with CF was recruited (93 clinically diagnosed, 139 NBS-detected).
- Data on clinical diagnosis, growth parameters, and Pseudomonas aeruginosa acquisition were collected.
- Statistical analysis was performed using SPSS.
Main Results:
- Children diagnosed via NBS showed significantly better weight and height at 6 and 12 months.
- NBS-detected children had a longer time to Pseudomonas aeruginosa acquisition post-diagnosis.
- Clinical diagnosis was independently associated with hospitalization for infective exacerbations before 36 months.
Conclusions:
- Newborn screening for CF in Ireland is associated with improved growth and reduced hospitalizations for acute exacerbations.
- NBS leads to delayed Pseudomonas aeruginosa acquisition from diagnosis.
- Screening practices may explain the lack of significant difference in P. aeruginosa acquisition from birth between cohorts.
Abstract:
The introduction of NBS in Ireland in July 2011, provided a unique opportunity to investigate clinical outcomes using a comparative historical cohort study. Clinical cohort: children clinically diagnosed with CF born 1 July 2008 to 30 June 2011, and NBS cohort: children diagnosed with CF through NBS born 1 July 2011 to 30 June 2016. Clinical data were collected from the CF Registry of Ireland, medical charts, and data on weight/height before diagnosis from public health nurses and family doctors. SPSS was used for analysis. A total of 232 patients were recruited (response 93%) (93 clinically diagnosed, 139 NBS-detected). Following exclusions of meconium ileus (MI) (40), diagnosis outside Ireland (4), and being designated as CFSPID (2), a total of 77 clinically diagnosed patients and 109 NBS detected children were included in analysis. Over half were homozygous for F508del mutation. Being clinically diagnosed was independently associated with hospitalization for infective exacerbation of CF < 36 months (OR, 2.80; 95%CI 1.24-6.29). Diagnosis to first acquisition of Pseudomonas aeruginosa was significantly longer in NBS than clinically detected; from birth there was no significant difference. Weight and length/height were significantly greater in NBS cohort at 6 and 12 months. We provide evidence of improved growth, reduced hospitalization for acute exacerbations, and delayed P. aeruginosa acquisition (from diagnosis) to age 3 for the NBS cohort. Screening practices likely account for the non-significant difference in P. aeruginosa acquisition from birth.
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