短读基因组测序在产前诊断中的进展、挑战与展望

IF 1.6 4区医学 Q4 DEVELOPMENTAL BIOLOGY

Birth Defects Research Pub Date : 2025-08-20 DOI:10.1002/bdr2.2516

Yanfei Wang, Xiaofan Zhu, Zhi Gao, Kong Xiangdong

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引用次数: 0

摘要

背景全基因组测序（WGS）作为一种基因检测技术在临床应用中得到越来越多的研究，其临床有效性已得到初步验证。近年来，WGS已被应用于产前诊断。方法对WGS用于产前诊断的研究现状和现有指南进行综述。介绍了WGS在产前诊断中的方法、诊断范围、诊断率、临床应用、可行性、局限性及伦理问题。结果回顾相关研究，有证据表明WGS可提高发育异常胎儿的诊断率。同时，WGS也面临着重大的挑战，例如对不确定意义变异的检出率较高。结论WGS在产前诊断中具有较大的应用潜力，但其临床应用仍需进一步研究。

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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Progress, Challenges, and Prospects of Short-Read Genome Sequencing in Prenatal Diagnosis

Background

Whole-genome sequencing (WGS) has been studied increasingly as a genetic testing technology in clinical applications, and its clinical validity has been preliminarily verified. In recent years, WGS has been employed in prenatal diagnosis.

Methods

This review synthesizes the current research and existing guidelines on the use of WGS for prenatal diagnosis. The methods, diagnostic scope, diagnostic rate, clinical usefulness, feasibility, limitations, and ethical issues of WGS in prenatal diagnosis are also presented.

Results

After reviewing the relevant studies, evidence indicated that WGS can improve the diagnostic rate for fetuses with abnormal development. At the same time, WGS also has significant challenges, such as a higher detection rate of variants of uncertain significance.

Conclusion

WGS has great potential in prenatal diagnosis, but more research is needed to advance its clinical application.

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来源期刊

Birth Defects Research Medicine-Embryology

CiteScore

3.60

自引率

9.50%

发文量

153

期刊介绍： The journal Birth Defects Research publishes original research and reviews in areas related to the etiology of adverse developmental and reproductive outcome. In particular the journal is devoted to the publication of original scientific research that contributes to the understanding of the biology of embryonic development and the prenatal causative factors and mechanisms leading to adverse pregnancy outcomes, namely structural and functional birth defects, pregnancy loss, postnatal functional defects in the human population, and to the identification of prenatal factors and biological mechanisms that reduce these risks. Adverse reproductive and developmental outcomes may have genetic, environmental, nutritional or epigenetic causes. Accordingly, the journal Birth Defects Research takes an integrated, multidisciplinary approach in its organization and publication strategy. The journal Birth Defects Research contains separate sections for clinical and molecular teratology, developmental and reproductive toxicology, and reviews in developmental biology to acknowledge and accommodate the integrative nature of research in this field. Each section has a dedicated editor who is a leader in his/her field and who has full editorial authority in his/her area.