Antenatal screening for haemoglobinopathies: current status, barriers and ethics

Area of Science:

• Medical Genetics
• Public Health
• Reproductive Medicine

Background:

• Sickle cell disease (SCD) and thalassaemia are common, serious genetic blood disorders causing significant health issues globally.
• Outcomes for SCD and thalassaemia patients vary greatly between wealthy and impoverished nations.
• Antenatal screening offers reproductive information to couples, enabling informed choices and potentially reducing the incidence of affected children.

Purpose of the Study:

• To review the current state of antenatal, pre-marital, and population screening for SCD and thalassaemia.
• To examine screening methodologies, associated ethical challenges, and controversies.
• To highlight the need for expanded screening in high-prevalence areas.

Main Methods:

• Literature review of current screening practices for SCD and thalassaemia.
• Analysis of screening methods, ethical considerations, and program outcomes.
• Identification of geographical areas with the highest prevalence.

Main Results:

• Significant disparities in SCD and thalassaemia outcomes exist globally.
• Antenatal screening programs aim to reduce the number of children born with these genetic disorders.
• Sub-Saharan Africa and India have the highest prevalence of SCD and thalassaemia.

Conclusions:

• Antenatal screening is vital for informed reproductive decision-making in SCD and thalassaemia.
• Ethical issues and controversies surround current screening practices.
• There is a critical need to implement and expand antenatal screening programs in high-prevalence regions, particularly sub-Saharan Africa and India.