Cell-Free DNA Screening for Single-Gene Disorders.

IF 4.3 4区医学 Q1 OBSTETRICS & GYNECOLOGY Obstetrical & Gynecological Survey Pub Date : 2024-03-01 DOI:10.1097/OGX.0000000000001250

Brighton S Goodhue, Sky E Danity, Neeta Vora, Jeffrey A Kuller, Matthew R Grace

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Abstract

Importance: In pregnancy, cell-free DNA (cfDNA) represents short fragments of placental DNA released into the maternal blood stream through natural cell death. Noninvasive prenatal screening with cfDNA is commonly used in pregnancy to screen for common aneuploidies. This technology continues to evolve, and laboratories now offer cfDNA screening for single-gene disorders.

Objective: This article aims to review cfDNA screening for single-gene disorders including the technology, current syndromes for which screening may be offered, limitations, and current recommendations.

Evidence acquisition: Original research articles, review articles, laboratory white papers, and society guidelines were reviewed.

Results: Cell-free DNA screening for single-gene disorders is not currently recommended by medical societies. There may be a role in specific circumstances and only after comprehensive pretest counseling. It can be considered in the setting of some fetal ultrasound anomalies, and usually only after diagnostic testing is offered and declined.

Conclusions: Given the limitations of using cfDNA screening for single-gene disorders, caution is recommended when considering these tests. It should only be offered with involvement of a reproductive genetic counselor, medical geneticist, or maternal fetal medicine specialist to ensure comprehensive counseling and appropriate utilization.

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单基因疾病的无细胞 DNA 筛查。

重要性：在妊娠过程中，无细胞 DNA（cfDNA）是通过自然细胞死亡释放到母体血流中的胎盘 DNA 短片段。使用 cfDNA 进行无创产前筛查是孕期筛查常见非整倍体的常用方法。这项技术在不断发展，现在实验室可提供针对单基因疾病的 cfDNA 筛查：本文旨在对 cfDNA 单基因疾病筛查进行综述，包括该技术、目前可提供筛查的综合征、局限性及当前建议：结果：结果：目前医学会并不推荐对单基因疾病进行无细胞 DNA 筛查。在特定情况下，只有经过全面的检测前咨询，无细胞 DNA 筛查才有可能发挥作用。在某些胎儿超声异常的情况下，可以考虑进行无细胞 DNA 筛查，但通常是在提供诊断测试但被拒绝后：鉴于使用 cfDNA 筛查单基因疾病的局限性，建议在考虑这些检测时谨慎行事。只有在生殖遗传咨询师、医学遗传学家或孕产妇胎儿医学专家的参与下，才能进行此类筛查，以确保提供全面的咨询和适当的使用。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Obstetrical & Gynecological Survey 医学-妇产科学

CiteScore

2.70

自引率

3.20%

发文量

245

审稿时长

>12 weeks

期刊介绍： Each monthly issue of Obstetrical & Gynecological Survey presents summaries of the most timely and clinically relevant research being published worldwide. These concise, easy-to-read summaries provide expert insight into how to apply the latest research to patient care. The accompanying editorial commentary puts the studies into perspective and supplies authoritative guidance. The result is a valuable, time-saving resource for busy clinicians.