无创产前检测：迈向下一个十年

doi:10.12372/jcp.2024.23e1192

摘要/Abstract

摘要：

无创产前基因检测（NIPT）是过去10余年来产前筛查领域的重大突破，是围产医学领域的引领技术。通过低深度全基因组测序分析孕妇外周血胎儿游离DNA（cffDNA），实现了高效的唐氏综合征产前筛查，同时可扩展应用于其他染色体非整倍体、拷贝数变异等常见胎儿基因组问题的筛查，实现胎儿疾病的早期无创检测。但是，NIPT依然需要更多循证医学证据支持，以迈向更为广阔的应用空间。文章从NIPT适应证选择、NIPT异常结果分析、NIPT结果报道与解读中的伦理学问题、NIPT在胎儿基因变异筛查中的应用以及非cffDNA来源NIPT技术开发等角度，探讨了NIPT目前面临的问题与未来的发展趋势。

关键词: 无创产前筛查, 游离胎儿DNA, 基因组测序, 外显组测序

Abstract:

Noninvasive prenatal testing (NIPT) was one of the most inspiring breakthroughs in prenatal diagnosis over the last ten years, leading the technology advancements in perinatal medicine. Through the analysis of maternal peripheral blood cffDNA by low-coverage whole-genome sequencing, NIPT has realized the efficient prenatal screening of Down syndrome, and it can be extended to screen other genomic disorders such as aneuploidies and copy number variations, realizing the early non-invasive diagnosis of fetal diseases. Despite the outstanding outcomes, NIPT still needs more evidence-based medical support to expand its clinical application in the future. This article explores the current challenges and future development trends of NIPT from the perspectives of identifying indications, analyzing abnormal results, ethical issues in reporting and interpreting results, the role of NIPT in fetal Mendelian disorder screening, and the development of non cffDNA based NIPT technology.

Key words: noninvasive prenatal screening, cell free fetal DNA, genome sequencing, exome sequencing

王彦林. 无创产前检测：迈向下一个十年[J]. 临床儿科杂志, 2024, 42(1): 15-19.

WANG Yanlin. Noninvasive prenatal testing: moving into the next decade[J]. Journal of Clinical Pediatrics, 2024, 42(1): 15-19.

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