Carrier screening and pregnancy

Peterlin, Borut (avtor), Peterlin, Ana Marija (avtor)

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.

• Jezik: Angleški jezik
• Ključne besede: assisted reproduction, ESC, equitable access, expanded carrier screening, reproductive autonomy, reproductive risk
• Vrsta gradiva: Članek v reviji
• Tipologija: 1.02 - Pregledni znanstveni članek
• Organizacija: MF - Medicinska fakulteta
• Status publikacije: Objavljeno
• Različica publikacije: Objavljena publikacija
• Leto izida: 2025
• Št. strani: 6 str.
• Številčenje: Vol. 100, art. 102601
• PID: 20.500.12556/RUL-181978
• UDK: 618.3
• ISSN pri članku: 1521-6934
• DOI: 10.1016/j.bpobgyn.2025.102601
• COBISS.SI-ID: 241316611
• Datum objave v RUL: 21.04.2026

Gradivo je del revije

• Naslov: Baillière's best practice & research. Clinical obstetrics & gynaecology
• Skrajšan naslov: Baillière's best pract. res., Clin. obstet. gynaecol.
• Založnik: Elsevier
• ISSN: 1521-6934
• COBISS.SI-ID: 1145963

Licence

• Licenca: CC BY 4.0, Creative Commons Priznanje avtorstva 4.0 Mednarodna
• Povezava: http://creativecommons.org/licenses/by/4.0/deed.sl
• Opis: To je standardna licenca Creative Commons, ki daje uporabnikom največ možnosti za nadaljnjo uporabo dela, pri čemer morajo navesti avtorja.