20.500.12556/DiRROS-28110 Carrier screening and pregnancy 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. assisted reproduction ESC equitable access expanded carrier screening reproductive autonomy reproductive risk true false true Angleški jezik Ni določen Neznano 2026-03-10 12:22:44 2026-03-10 12:22:44 2026-03-11 03:59:16 0000-00-00 00:00:00 2025 0 0 str. 1-6 [article no.] 102601 Vol. 100 2025 0000-00-00 Zaloznikova Objavljeno NiDoloceno 0000-00-00 0000-00-00 0000-00-00 618.3 1521-6934 10.1016/j.bpobgyn.2025.102601 241316611 RAZ_Peterlin_Borut_2025.pdf RAZ_Peterlin_Borut_2025.pdf 1 24D38AF3175C3C1ACB3764634DC8551C b895453765cbf0187c68a7bd3f4e64ed823481ce782037c524a013b9be7e2ce3 b7748dd2-1c73-11f1-acf8-001a4af901a5 https://dirros.openscience.si/Dokument.php?lang=slv&id=41545 https://www.sciencedirect.com/science/article/pii/S1521693425000252?via%3Dihub 1 75f94424-1c73-11f1-acf8-001a4af901a5 https://dirros.openscience.si/Dokument.php?lang=slv&id=41544 Univerzitetni klinični center Ljubljana 0 0 0