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中华妇幼临床医学杂志(电子版) ›› 2024, Vol. 20 ›› Issue (03) : 245 -250. doi: 10.3877/cma.j.issn.1673-5250.2024.03.001

生殖医学专辑

胎儿单基因遗传病无创产前检测的研究现状
谭娟1, 谭建新2, 邵彬彬2, 王艳2, 许争峰2,†()   
  1. 1. 南京医科大学附属妇产医院（南京市妇幼保健院）产前诊断中心，南京　210004；连云港市妇幼保健院医学遗传与产前诊断科，连云港　222006
    2. 南京医科大学附属妇产医院（南京市妇幼保健院）产前诊断中心，南京　210004
  • 收稿日期:2024-01-30 修回日期:2024-04-30 出版日期:2024-06-01
  • 通信作者: 许争峰

Current research status on non-invasive prenatal testing for fetal with single gene inheritance diseases

Juan Tan1, Jianxin Tan2, Binbin Shao2, Yan Wang2, Zhengfeng Xu2,†()   

  1. 1. Prenatal Diagnosis Center, Women′s Hospital of Nanjing Medical University (Nanjing Women and Children′s Healthcare Hospital), Nanjing 210004, Jiangsu Province, China; Department of Medical Genetics and Prenatal Diagnosis, Lianyungang Maternal and Child Health Hospital, Lianyungang 222006, Jiangsu Province, China
    2. Prenatal Diagnosis Center, Women′s Hospital of Nanjing Medical University (Nanjing Women and Children′s Healthcare Hospital), Nanjing 210004, Jiangsu Province, China
  • Received:2024-01-30 Revised:2024-04-30 Published:2024-06-01
  • Corresponding author: Zhengfeng Xu
  • Supported by:
    National Key Research and Development Program of China(2022YFC2703400); Lianyungang Health Technology Project(202126)
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谭娟, 谭建新, 邵彬彬, 王艳, 许争峰. 胎儿单基因遗传病无创产前检测的研究现状[J]. 中华妇幼临床医学杂志(电子版), 2024, 20(03): 245-250.

Juan Tan, Jianxin Tan, Binbin Shao, Yan Wang, Zhengfeng Xu. Current research status on non-invasive prenatal testing for fetal with single gene inheritance diseases[J]. Chinese Journal of Obstetrics & Gynecology and Pediatrics(Electronic Edition), 2024, 20(03): 245-250.

单基因遗传病(single gene inheritance disease)，又可被简称为单基因病(monogenic inheritance)，是导致新生儿出生缺陷的主要原因之一。目前临床对绝大多数该病患儿尚无有效治疗手段，该病患儿出生给社会和家庭造成巨大负担。因此，对胎儿单基因病的产前筛查与诊断十分重要。目前无创产前检测(NIPT)作为一种新的检测胎儿单基因病的技术，因其具有采样安全、方便、早孕期无创检测等优势，受到产前诊断领域越来越多关注。笔者拟对胎儿单基因病NIPT技术及其应用前景与临床开展面临的挑战的最新研究现状进行阐述。

关键词: 遗传性疾病，先天性, 伦理学，医学, 单基因遗传病, 无创性产前检测, 胎儿游离DNA, 胎儿有核细胞, 二代测序, 孕妇，早孕期

Single gene inheritance disease also known as monogenic inheritance, is one of the main causes of birth defects in newborns. The vast majority single gene inheritance diseases still lack effective treatment methods up to now, and cause a huge burden on society and families of children with gene inheritance diseases. Therefore, prenatal screening and diagnosis of fetal with single gene inheritance diseases are very important. At present, non-invasive prenatal testing (NIPT), as a new technology for detecting fetal with single gene inheritance diseases, has attracted increasing attention in the field of prenatal diagnosis due to its advantages of sampling safety, convenience, and non-invasive early pregnancy detection. The authors intended to elaborate on the latest research status of the technical methods, application prospects, and clinical challenges of NIPT for fetal with single gene inheritance diseases.

Key words: Genetic diseases, inborn, Ethics, medical, Single gene inheritance disease, Non-invasive prenatal testing, Cell-free fetal DNA, Fetal nucleated cells, Next generation sequencing, Pregnant women, first trimester
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