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Sickle cell disease and thalassaemia antenatal screening programme in England over 10 years: a review from 2007/2008
Leonora G Weil1, Matthew Rm Charlton2, Cathy Coppinger3
1Health Protection and Medical Directorate, Public Health England, London, UK leonora.weil@phe.gov.uk.
Insights
England's antenatal sickle cell and thalassaemia screening programme shows high acceptance but faces challenges in timely testing. Improving the speed of screening and prenatal diagnosis (PND) is crucial for informed reproductive choices.
Area of Science:
- Public Health
- Genetics
- Obstetrics
Background:
- Sickle cell disease and thalassaemia are significant inherited blood disorders.
- Antenatal screening aims to identify carriers and affected pregnancies early.
- The national programme in England has been running for over a decade.
Purpose of the Study:
- To evaluate the performance of England's antenatal sickle cell and thalassaemia screening programme over a 10-year period.
- To assess key metrics including coverage, timeliness, and outcomes.
- To identify areas for improvement in the screening pathway.
Main Methods:
- Utilized routine data from screening laboratories, maternity trusts, and prenatal diagnosis (PND) services.
- Analyzed data on booked samples, further testing, PND tests, and screening incidents.
- Examined trends in test coverage, completion rates, and timing over the 10-year period.
Main Results:
- Over 6.6 million samples were screened, with 154,196 women requiring further testing.
- High and increasing antenatal test coverage and Family Origin Questionnaire completion rates were observed.
- Significant variations in the timing of antenatal tests and follow-up were noted, with a decrease in timely PND testing post-2014/2015.
Conclusions:
- The antenatal screening programme is well-integrated into routine care in England.
- Consistent failure to meet programme standards for the timeliness of screening and PND testing was identified.
- Improving the speed of the screening and diagnostic process is essential for enabling informed reproductive decision-making.
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.
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