Sickle cell and thalassaemia screening: learning from incidents
Updated 19 December 2024
Applies to England
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1. Failsafe in screening programmes
When things don’t go as planned, failsafe processes help to identify these in real time so that action can be taken before harm occurs. Here’s an example.
Mrs. Russell books for maternity care and accepts sickle cell and thalassemia screening at 8 weeks of pregnancy. Her blood sample is taken and dispatched to the screening laboratory.
Do you have processes to check that you have her results within 3 working days? Screening laboratories will report most results within 3 working days from sample receipt (SCT-S04).
Do you have processes to follow up with the screening laboratory if you don’t have a result within 3 working days? Or do you wait until her next appointment which might be around 16 weeks?
Mrs. Russell’s blood sample taken at 8 weeks was lost and never arrived in the laboratory. If you only checked her results before her appointment at 16 weeks you would have lost 8 weeks and delayed the screening pathway for example inviting the baby’s father for screening if Mrs. Russell was found to be a carrier.
We have evidence from screening safety incidents that some providers do not have processes in place for checking screening results in line with national standards. They therefore do not find out if a screening sample was inadequate, needs repeating or never arrived in the screening laboratory sometimes; until reporting on key performance indicators 3 months later.
For failsafe processes to be effective, they must be timely.
2. Learning scenarios
We provide the following real scenarios to demonstrate situations where the screening pathway was not delivered as specified. We hope that you will be able to use these scenarios to look at your local pathway and confirm you have failsafe processes or to address any gaps that may exist.
2.1 Completing the family origin questionnaire accurately
A woman booked for maternity care and had screening at 12 weeks. The family origin questionnaire was completed stating her family origin as White British. At 20 weeks it was discovered that this information was incorrect, and the pregnancy was an IVF pregnancy using an egg donor with Greek family origins.
2.2 Communicating results to maternity services
A woman booked at 9 weeks gestation, screening for sickle cell and thalassaemia was accepted and she was found to be a beta thalassaemia carrier. This result was not communicated to maternity services and was only followed up by the community midwife after the 16-week antenatal appointment.
2.3 Not testing the baby’s father
Newborn blood spot screening revealed an unexpected neonatal diagnosis of homozygous sickle cell disease (HbSS). Parents reported having antenatal screening and the father said he was waiting for his results. The woman had screening for sickle and thalassaemia at 9 weeks gestation. Care was transferred to a different provider and the woman was offered genetic counselling, father testing accepted, and screening sample taken at 14 weeks gestation. A clerical error occurred with requesting the laboratory testing of the father’s sample. The lack of the father’s results was undetected.
2.4 Incorrect assumptions about the father
Newborn blood spot screening revealed an unexpected diagnosis of sickle cell disease. Woman booked for antenatal care at 9 weeks gestation and reported that both her and the baby’s father were sickle cell carriers. This was documented in both her handheld records and hospital records. The woman was asked to provide documented evidence of the father’s result as the father was out of the country.
This information was not followed up as the screening team was falsely reassured by a negative status report in the previous pregnancy records. They did not realise that the father of the baby was different to the previous pregnancy. The screening database was populated with this incorrect information and there was no further trigger to follow-up the absent sickle status report for the baby’s father.