Carrier screening and pregnancy

Abstract

Recessive genetic conditions impose a significant burden, often leading to severe childhood disorders, many of which remain untreatable. It is estimated that 1-2 % of couples are at risk of having an affected child in the general population, with the risk being significantly higher in consanguineous couples. Understanding the increased risk of having a child with a recessive disorder empowers prospective parents to make informed reproductive choices. With technological advancements, genetic screening has evolved beyond identifying only a few common conditions. Expanded carrier screening (ESC) now offers a single test that covers a comprehensive list of recessive disorders, addressing those that contribute most significantly to the burden of these conditions within specific populations. ESC is recommended for all couples planning a pregnancy, with particular emphasis on consanguineous couples or those who are subfertile. To ensure responsible use of ESC, clinical service delivery should adopt a multidisciplinary approach, providing couples with the information they need to make voluntary, informed decisions. This includes access to high-quality genetic testing, genetic counseling, and psychosocial support. National professional societies and governments play a crucial role in shaping guidelines, policies, oversight, and funding to guarantee equitable access to high-quality ESC services.

Keywords: Assisted reproduction; ESC; Equitable access; Expanded carrier screening; Reproductive autonomy; Reproductive risk.