国际生殖健康/计划生育杂志

国际生殖健康/计划生育 ›› 2012, Vol. 31 ›› Issue (4): 308-311.

• 综述 • 上一篇    下一篇

非侵入性产前诊断——母体血中胎儿DNA检测

于 君,谷 芳   

  1. 济南军区空军后勤部卫生处（于 君）；中国人民解放军总医院妇产科（谷 芳）
  • 收稿日期:1900-01-01 修回日期:1900-01-01 出版日期:2012-07-15 发布日期:2012-07-15
  • 通讯作者: 谷 芳

Non-invasive Prenatal Diagnosis by Fetal Nucleic Acid Analysis in Maternal Plasma

YU Jun，GU Fang   

  1. Clinic，Air Force Logistics Department，Jinan Command，Jinan 250002，China （YU Jun）；Department of Obstetrics and Gynecology，the General Hospital of the People's Liberation Army，Beijing 100853，China （GU Fang）
  • Received:1900-01-01 Revised:1900-01-01 Published:2012-07-15 Online:2012-07-15
  • Contact: GU Fang

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摘要： 目前产前诊断主要通过绒毛取样或羊膜腔穿刺获得胎儿遗传物质，可能会对妊娠妇女和胎儿造成影响。近年来，通过检测母血中胎儿DNA进行非侵入性产前诊断飞速发展，胎儿性别和RhD血型鉴定已广泛应用于临床，单基因遗传病和非整倍体的准确诊断也进行了实验论证。相信在未来几年，检测母血中胎儿DNA进行非侵入性产前诊断将在临床上有更广泛的应用。

关键词: 产前诊断, 染色体, DNA, 非整倍体, 性别预选, 血型鉴定和交叉配血, 遗传性疾病, 先天性, 实验室技术和方法, 细胞遗传学分析

Abstract: In the current prenatal programmes，definitive diagnosis of fetal genetic or chromosomal conditions is conducted through fetal sampling by amniocentesis or chorionic villus sampling. To obviate the risks of fetal miscarriage，non-invasive prenatal diagnostic tests based on cell-free fetal DNA analysis has been developed fastly. To date，fetal sex and rhesus D status determination by circulating fetal DNA analysis is performed clinically in many centres. Strategies for the non-invasive diagnosis of monogenic diseases and fetal aneuploidy have been achieved. We believe that many of the non-invasive prenatal tests could be introduced to the clinics extensively.

Key words: Prenatal diagnosis, Chromosomes, DNA, Aneuploidy, Sex preselection, Blood grouping and crossmatching, Genetic diseases, inborn, Laboratory techniques and procedures, Cytogenetic analysis