Carrier screening and pregnancy

Peterlin, Borut (author), Peterlin, Ana Marija (author)

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.

• Language: English
• Keywords: assisted reproduction, ESC, equitable access, expanded carrier screening, reproductive autonomy, reproductive risk
• Work type: Article
• Typology: 1.02 - Review Article
• Organization: MF - Faculty of Medicine
• Publication status: Published
• Publication version: Version of Record
• Year: 2025
• Number of pages: 6 str.
• Numbering: Vol. 100, art. 102601
• PID: 20.500.12556/RUL-181978
• UDC: 618.3
• ISSN on article: 1521-6934
• DOI: 10.1016/j.bpobgyn.2025.102601
• COBISS.SI-ID: 241316611
• Publication date in RUL: 21.04.2026

Record is a part of a journal

• Title: Baillière's best practice & research. Clinical obstetrics & gynaecology
• Shortened title: Baillière's best pract. res., Clin. obstet. gynaecol.
• Publisher: Elsevier
• ISSN: 1521-6934
• COBISS.SI-ID: 1145963

Licences

• License: CC BY 4.0, Creative Commons Attribution 4.0 International
• Link: http://creativecommons.org/licenses/by/4.0/
• Description: This is the standard Creative Commons license that gives others maximum freedom to do what they want with the work as long as they credit the author.