Haemoglobinopathy screening in an maternity hospital

Area of Science:

• Medical Screening
• Public Health
• Genetics

Background:

• Population changes increase the risk of haemoglobinopathies, like sickle cell anaemia, in mothers and infants in Ireland.
• Early detection of sickle cell anaemia is vital for improving patient outcomes.
• Antenatal and neonatal screening programmes target high-risk ethnic groups to identify these conditions.

Purpose of the Study:

• To audit the provision rate of an antenatal and neonatal sickle cell anaemia screening programme.
• To assess the effectiveness of screening for high-risk ethnic groups at the National Maternity Hospital in 2003.

Main Methods:

• Retrospective audit using hospital databases.
• Estimation of high-risk mothers screened and infants at risk of homozygous haemoglobinopathies.
• Calculation of antenatal and neonatal screening provision rates.

Main Results:

• In 2003, 1231 (14.9%) high-risk women delivered at the National Maternity Hospital; 80.5% were appropriately screened.
• 130 women had abnormal antenatal screens, identifying 131 infants at risk.
• Only 45% of at-risk infants received neonatal screening.

Conclusions:

• The audited screening programme did not meet satisfactory provision rates for either antenatal or neonatal screening.
• Improvements are needed to ensure adequate screening for sickle cell anaemia in at-risk populations.