Objective To evaluate England’s NHS newborn sickle cell screening programme performance in children up to the age of 5 years.
Design Cohort of resident infants with sickle cell disease (SCD) born between 1 September 2010 and 31 August 2015 and followed until August 2016.
Participants 1317 infants with SCD were notified to the study from all centres in England and 1313 (99%) were followed up.
Interventions Early enrolment in clinical follow-up, parental education and routine penicillin prophylaxis.
Main outcome measures Age seen by a specialist clinician, age at prescription of penicillin prophylaxis and mortality.
Results All but two resident cases of SCD were identified through screening; one baby was enrolled in care after prenatal diagnosis; one baby whose parents refused newborn screening presented symptomatically. There were 1054/1313 (80.3%, 95% CI 78% to 82.4%) SCD cases seen by a specialist by 3 months of age and 1273/1313 (97%, 95% CI 95.9% to 97.8%) by 6 months. The percentage seen by 3 months increased from 77% in 2010 to 85.4% in 2015. 1038/1292 (80.3%, 95% CI 78.1% to 82.5%) were prescribed penicillin by 3 months of age and 1257/1292 (97.3%, 95% CI 96.3% to 98.1%) by 6 months. There were three SCD deaths <5 years caused by invasive pneumococcal disease (IPD) sensitive to penicillin.
Conclusion The SCD screening programme is effective at detecting affected infants. Enrolment into specialist care is timely but below the programme standards. Mortality is reducing but adherence to antibiotic prophylaxis remains important for IPD serotypes not in the current vaccine schedule.
- health services research
- outcomes research
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Contributors AS made substantial contributions to the conception of the study, analysis and interpretation of the data and wrote the final article. RS was responsible for a majority of the acquisition and analysis of the data as well as approval of the final version of the report. MD was responsible for acquisition, analysis and interpretation of the data as well as critical revisions to ensure clinical elements were suitably covered and approval of the final version of the report. RL made a substantial contribution to the conception and the design of the work, acquisition of data, securing approval for the work via 251 and CAG as well as approval of the final version of the report. KH made substantial contribution to the analysis of the data and drafting of the report as well as final approval of the report. ED wrote an earlier version of this article and made substantial contributions to the design of the study, securing its approval, acquisition of data, interpretation, critical comments on drafts and approval of the final report.
Funding Funding for the project has been through the Department of Health to the National Screening programme.
Competing interests None declared.
Patient consent Detail has been removed from this case description/these case descriptions to ensure anonymity. The editors and reviewers have seen the detailed information available and are satisfied that the information backs up the case the authors are making.
Ethics approval Section 251 approval was obtained from the NHS Information Centre before the start of the study and annually subsequently including since 25 via CAG.
Provenance and peer review Not commissioned; externally peer reviewed.
Data sharing statement The study collected a limited number of data items on each case which are now anonymised and there are no data sharing available at present. The main study with named data has now transferred into Public Health England to form a rare disease registry which will continue to collect data on new cases over time.
Press Release we are planning a press release from Kings College - combined with PHE we are also planning to share with SIckle Cell Society for them to consider and use in briefing to patient groups given their support of the project
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