无创产前检测：迈向下一个十年

doi:10.12372/jcp.2024.23e1192

Abstract

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

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

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Noninvasive prenatal testing: moving into the next decade

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