P001 A childhood, 16 years of cystic fibrosis (CF) Newborn Screening data in East London and beyond
نویسندگان
چکیده
Introduction: IRT & CFTR mutation testing was added to the UK newborn screening programme in 2007, revolutionising early CF diagnosis care. As a regional paediatric centre, we are informed of all results our area now have whole childhood (16yrs) data. We cover East London beyond with wide patient ethnic diversity sought examine impact this on numbers outcomes compared UK. Methods: reviewed screen positive records babies referred from July 2007-January 2023. Data amalgamated outcome, current diagnostic status ethnicity. All eligible parents consented national registry. Screening categorised as CF, CFSPID or false positive. local database. Results: 162 were over 16 years, these, 80 (49%) had confirmed by genetics +/– sweat test, 11 (12%) designated CFSPID. 5 different centre due home postcode. Of 86 under care, 73 (84%) white, 12 (14%) Asian 6 (7%) mixed Our overall caseload ethnicity (2007–2023) has varied 74%–82% 13–22% 2–11% In addition, since 3 children initial negative subsequently diagnosed 1 4 late atypical (2 FH 2 sibling CFSPID). CFSPID, (36%) been redesignated chloride changes &/or developing clinical features. 71/162 (44%) subsequent test; 20 (28%) (23%) Asian, (4%) mixed, 18 (25%) Black, 14 (20%) other/no code recorded. Conclusion: population is more ethnically diverse than reported 2021 Registry report (92% white) for years received referrals algorithm predicted.
منابع مشابه
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ژورنال
عنوان ژورنال: Journal of Cystic Fibrosis
سال: 2023
ISSN: ['1569-1993', '1873-5010']
DOI: https://doi.org/10.1016/s1569-1993(23)00377-6