Respiratory medicine · 2025
Cystic fibrosis newborn screening in a high prevalence population - Ten years' experience in Ireland.
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McGuire Fiona, Collins Abigail, Elsammak Mohamed, O'Loughlin Mark, O'Grady Loretta, McDaid Jennifer, Rogers Melissa, Marsden Paul, Linnane Barry
Аннотация
BACKGROUND: Ireland has one of the highest birth prevalences of cystic fibrosis (CF) in the world. Newborn screening (NBS) was introduced in July 2011 using an immunoreactive trypsinogen (IRT)/DNA protocol. Tier 1 identifies infants with IRT >99th centile, with samples sent for tier 2 testing against a 38 CF mutation panel (with R117H turned off). A "safety net" system whereby very high IRT values, with no mutations identified, prompt further testing is not employed. Infants with one, or two, CF mutations identified are referred to one of six CF specialist centres for sweat testing.
METHODS: We reviewed the performance of the first 10 years of screening using national birth data and data from the centralised CF NBS laboratory, from where the programme is coordinated nationally.
RESULTS: From 2011 to 2021, 650,809 infants were screened for CF. IRT was raised in 7424 (1.14 %). Of these, 233 (3.1 %) had two mutations identified and 609 (8.2 %) had one. With 284 cases detected by NBS, and six undetected, the sensitivity was 97.9 %. The positive predictive value was 0.3. The birth incidence was 1 in 2203 live births. Six antenatal diagnoses of CF were confirmed on CF NBS. There were 21 cases of CFSPID resulting in a CF:CFSPID ratio of 13.2:1. The median age of referral to a specialist CF centre was 21 days (range 12-42).
CONCLUSION: the Irish CF NBS programme performed well in its first ten years, across all metrics, when compared with international standards and other national programmes.
METHODS: We reviewed the performance of the first 10 years of screening using national birth data and data from the centralised CF NBS laboratory, from where the programme is coordinated nationally.
RESULTS: From 2011 to 2021, 650,809 infants were screened for CF. IRT was raised in 7424 (1.14 %). Of these, 233 (3.1 %) had two mutations identified and 609 (8.2 %) had one. With 284 cases detected by NBS, and six undetected, the sensitivity was 97.9 %. The positive predictive value was 0.3. The birth incidence was 1 in 2203 live births. Six antenatal diagnoses of CF were confirmed on CF NBS. There were 21 cases of CFSPID resulting in a CF:CFSPID ratio of 13.2:1. The median age of referral to a specialist CF centre was 21 days (range 12-42).
CONCLUSION: the Irish CF NBS programme performed well in its first ten years, across all metrics, when compared with international standards and other national programmes.