Chinese Medical E-ournals Database

Chinese Journal of Obstetrics & Gynecology and Pediatrics(Electronic Edition) ›› 2026, Vol. 22 ›› Issue (04): 283 -289. doi: 10.3877/cma.j.issn.1673-5250.2026.04.002

Forum

Application of genome sequencing in prenatal diagnosis

Yujie Zhu1,2,3, Mengmeng Shi1,2,4, Chunshu Jia5, Ye Cao1,2,4, Kwong Wai Choy1,2,4,()   

  1. 1Department of Obstetrics and Gynaecology, Faculty of Medicine, The Chinese University of Hong Kong, Hong Kong 999077, Hong Kong Special Administrative Region, China;
    2The Obstetric and Pediatric Center (Shenzhen) under Hong Kong Hub of Obstetric and Paediatric Excellence (HK HOPE), The Chinese University of Hong Kong, Shenzhen 518133, Guangdong Province, China;
    3Prenatal Diagnosis Center, Center for Obstetrics and Gynecology, Nanjing Drum Tower Hospital, the Affiliated Hospital of Nanjing University Medical School, Nanjing 210008, Jiangsu Province, China;
    4Shenzhen Research Institute, The Chinese University of Hong Kong, Shenzhen 518000, Guangdong Province, China;
    5Prenatal Diagnosis Center, Reproductive Medicine Center, The First Hospital of Jilin University, Changchun 130000, Jilin Province, China
  • Received:2026-03-22 Revised:2026-07-20 Published:2026-08-01
  • Corresponding author: Kwong Wai Choy
  • Supported by:
    National Key Research and Development Program of China(2023YFC2705603); Collaborative Research Fund by RGC of Hong Kong(C4062-21GF)

National policy of China has prioritized prevention and control of birth defects and congenital disabilities. Prenatal diagnosis, as a key component of the three-tier prevention system, plays a critical and strategically important role in carrying out measures for healthy childbirth and child-rearing. With the clinical application of chromosomal microarray analysis (CMA) and genome sequencing (GS) technologies, the field of prenatal diagnosis is undergoing significant advancements. GS technology is now transforming clinical practice and advancing the field toward precision medicine. However, as GS technology becomes rapidly popularized in prenatal applications, the demand for standardizing its application continues to rise. The authors aim to systematically review the development of prenatal diagnostic technologies, with a focus on the indications for GS in prenatal diagnosis, evidence from its clinical applications, and leading international practices, and to further explore future trends in the integration of multiple GS technologies. The goal is to develop an optimized strategy for deeply integrating GS technologies into prenatal diagnosis, provide a theoretical basis and practical reference for improving the standardization and precision of prenatal diagnosis in China, and simultaneously offer robust technical support for strengthening the prevention and control of birth defects.

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