| Title: | Carrier screening and pregnancy |
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| Authors: | ID Peterlin, Borut (Author)
ID Peterlin, Ana Marija (Author) |
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| Files: |  PDF - Presentation file, download (438,19 KB)
MD5: 24D38AF3175C3C1ACB3764634DC8551C
 URL - Source URL, visit https://www.sciencedirect.com/science/article/pii/S1521693425000252?via%3Dihub
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| Language: | English |
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| Typology: | 1.02 - Review Article |
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| Organization: |  UKC LJ - Ljubljana University Medical Centre
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| 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. |
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| Keywords: | assisted reproduction, ESC, equitable access, expanded carrier screening, reproductive autonomy, reproductive risk |
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| Publication status: | Published |
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| Publication version: | Version of Record |
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| Year of publishing: | 2025 |
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| Number of pages: | str. 1-6 |
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| Numbering: | Vol. 100, [article no.] 102601 |
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| PID: | 20.500.12556/DiRROS-28110  |
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| UDC: | 618.3 |
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| ISSN on article: | 1521-6934 |
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| DOI: | 10.1016/j.bpobgyn.2025.102601 |
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| COBISS.SI-ID: | 241316611 |
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| Publication date in DiRROS: | 10.03.2026 |
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| Views: | 72 |
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| Downloads: | 37 |
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