Carrier screening and pregnancy

Area of Science:

• Medical Genetics
• Reproductive Medicine
• Public Health

Background:

• Recessive genetic conditions cause significant childhood disorders, with 1-2% of couples at risk.
• Consanguineous couples face a substantially higher risk of affected offspring.
• Current genetic screening has advanced to offer comprehensive testing for numerous conditions.

Purpose of the Study:

• To highlight the importance of understanding recessive disorder risks for informed reproductive decisions.
• To introduce Expanded Carrier Screening (ESC) as a comprehensive solution for identifying recessive conditions.
• To advocate for a multidisciplinary approach in delivering ESC services.

Main Methods:

• Utilizing advanced genetic screening technology for comprehensive carrier testing.
• Recommending ESC for all couples planning pregnancy, particularly consanguineous or subfertile individuals.
• Emphasizing a multidisciplinary clinical service delivery model.

Main Results:

• ESC provides a single test for a wide array of recessive disorders.
• The study underscores the need for informed decision-making through genetic counseling and support.
• ESC is recommended for all couples, with emphasis on high-risk groups.

Conclusions:

• Expanded Carrier Screening (ESC) is a powerful tool for identifying risks of recessive genetic disorders.
• Responsible implementation requires genetic counseling, psychosocial support, and informed consent.
• National policies and funding are essential for equitable access to high-quality ESC services.