Less than 40% of early prenatal diagnostic (PND) tests for sickle cell disease are performed by 12 weeks and 6 days gestation, according to the latest report from the NHS Sickle Cell and Thalassaemia Screening Programme.
The new figures show that between 1 April 2016 and 31 March 2017, approximately 677,000 pregnant women were screened for sickle cell and thalassaemia, and approximately 667,500 newborn babies were screened for sickle cell disease. One in 53 women screened had a positive result (n=12,705) and 751 at-risk couples were identified (1 in 17 screen positives).
The acceptable level of pregnant women having a screening result available by 10 weeks and 0 days gestation was met nationally in 2016-2017. Just over 53% of women were screened within this window.
However, this does not seem to have had a positive effect on early PND testing. The proportion of PND tests performed by 12 weeks and 6 days gestation was just 37.5%. The programme is introducing a new key performance indicator to measure the number of at-risk women offered PND testing by 12 weeks and 0 days. It is hoped that this new measure will identify whether there is a delay in offering PND testing, which may be causing PND testing to take place at a later gestation.