Objectives To evaluate the antenatal sickle cell and thalassaemia screening programme in England over 10 years from 1 April 2007 to 31 March 2017.
Methods Four routine data sources were used: antenatal screening laboratory data; key performance indicator data from maternity trusts; prenatal diagnosis (PND) laboratory data and data from screening incidents.
Results For the 10 years examined a total of 6608 575 booking samples were reported as screened, and 154 196 pregnant women required further testing. There were 3941 reported PND tests of which there were 964 affected fetal results. Antenatal test coverage and Family Origin Questionnaire completion rates are high and increasing; the proportion of tests declined has decreased. However, there is wide variation in the timing of antenatal tests and completeness of follow-up and testing. Since 2014/2015 a lower proportion of PND tests are performed by the programme standard of 12+6 weeks. Results suggest that PND timing affects reproductive choices as those with an affected fetus identified by PND testing earlier are more likely to terminate the pregnancy.
Conclusions The screening programme appears to be widely accepted as part of routine antenatal care in England. However, the timeliness of screening and subsequent PND testing has consistently not met programme standards. Improving timeliness would enable individuals to consider their options to make informed choices for their pregnancies at the appropriate time. This paper reports carrier rates for an almost complete cohort of women which provides important epidemiological information on the genetic profile of women in England.
- sickle cell disease
- diagnostic screening
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Handling editor Mary Frances McMullin.
Contributors LGW and MRMC planned the manuscript outline and drafted the manuscript. AS conceived the paper, planned the manuscript outline and edited the manuscript. CC and YD planned the manuscript outline and edited the manuscript.
Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.
Competing interests YD is Scientific Advisor to the screening programme since 2010. AS was Programme Director for the NHS SCT screening programme from 2002 to the end of March 2013. CC was PHE Programme Manager, NHS SCT screening programme from 1 April 2013 until 30 June 2019. MRMC was Screening Data and Information Manager for the NHS SCT screening programme between September 2010 and April 2018.
Patient consent for publication Not required.
Provenance and peer review Commissioned; externally peer reviewed.