| Naslov: | Carrier screening and pregnancy |
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| Avtorji: | ID Peterlin, Borut (Avtor)
ID Peterlin, Ana Marija (Avtor) |
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| Datoteke: |  PDF - Predstavitvena datoteka, prenos (438,19 KB)
MD5: 24D38AF3175C3C1ACB3764634DC8551C
 URL - Izvorni URL, za dostop obiščite https://www.sciencedirect.com/science/article/pii/S1521693425000252?via%3Dihub
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| Jezik: | Angleški jezik |
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| Tipologija: | 1.02 - Pregledni znanstveni članek |
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| Organizacija: |  UKC LJ - Univerzitetni klinični center Ljubljana
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| Povzetek: | 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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| Ključne besede: | assisted reproduction, ESC, equitable access, expanded carrier screening, reproductive autonomy, reproductive risk |
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| Status publikacije: | Objavljeno |
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| Verzija publikacije: | Objavljena publikacija |
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| Leto izida: | 2025 |
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| Št. strani: | str. 1-6 |
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| Številčenje: | Vol. 100, [article no.] 102601 |
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| PID: | 20.500.12556/DiRROS-28110  |
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| UDK: | 618.3 |
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| ISSN pri članku: | 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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| Datum objave v DiRROS: | 10.03.2026 |
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| Število ogledov: | 70 |
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| Število prenosov: | 35 |
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| Metapodatki: |    |
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