Expanding families: a pilot study on preconception expanded carrier screening in Bahrain

Area of Science:

• Reproductive genetics
• Medical genomics
• Genetic counseling

Background:

• Expanded carrier screening (ECS) utilizes next-generation sequencing (NGS) to identify carriers of recessive genetic disorders.
• ECS screens hundreds of genes, offering comprehensive carrier status evaluation.
• Growing integration of NGS-based ECS into preconception care.

Purpose of the Study:

• To determine carrier genetic status in couples with conception challenges using NGS-based ECS.
• To assess the prevalence of rare genetic disorders in a population with increased consanguinity.
• To evaluate the utility of preconception ECS for reproductive planning.

Main Methods:

• Retrospective analysis of 30 couples undergoing ECS at a Genetic Disease Clinic (2015-2024).
• Couples had a history of failed reproductive outcomes or family history of genetic disorders.
• Screening involved next-generation sequencing (NGS) for up to hundreds of genes.

Main Results:

• 90% of individuals (54/60) carried at least one genetic variant across 95 genes.
• Most detected variants (82.18%) were unexpected or previously unknown.
• 14 couples (46.67%) reported consanguinity, with 8 couples sharing two or more variants.

Conclusions:

• Preconception ECS is vital for informed reproductive decision-making.
• ECS empowers couples to understand combined genetic risks.
• Early identification of carrier status reduces the likelihood of offspring inheriting genetic disorders.