Carrier screening and pregnancy

IF 3.9 2区医学 Q1 OBSTETRICS & GYNECOLOGY

Best Practice & Research Clinical Obstetrics & Gynaecology Pub Date : 2025-03-15 DOI:10.1016/j.bpobgyn.2025.102601

Borut Peterlin , Ana Peterlin

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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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来源期刊

Best Practice & Research Clinical Obstetrics & Gynaecology 医学-妇产科学

CiteScore

9.40

自引率

1.80%

发文量

113

审稿时长

54 days

期刊介绍： In practical paperback format, each 200 page topic-based issue of Best Practice & Research Clinical Obstetrics & Gynaecology will provide a comprehensive review of current clinical practice and thinking within the specialties of obstetrics and gynaecology. All chapters take the form of practical, evidence-based reviews that seek to address key clinical issues of diagnosis, treatment and patient management. Each issue follows a problem-orientated approach that focuses on the key questions to be addressed, clearly defining what is known and not known. Management will be described in practical terms so that it can be applied to the individual patient.