Rapid prenatal diagnosis of trisomy 21 by fluorescent quantitative multiplex polymerase chain reaction

• Published in: Chinese medical journal Vol. 119; no. 6; pp. 514 - 517
• Main Authors: Zheng, Fang, Zhou, Xin, Zhang, Yuan-zhen, Sun, Xiao-bo, Peng, Jian-hong, Wang, Chun-hong, Xiong, Chen-ling, Li, Xia
• Format: Journal Article
• Language: English
• Published: China Gene Diagnosis Center, Zhongnan Hospital of Wuhan University, Wuhan 430071, China%Department of Obstetrics and Gynecology,Zhongnan Hospital of Wuhan University, Wuhan 430071, China%Department of Public Health, Wuhan University, Wuhan 430071, China 20.03.2006
• Subjects: Down Syndrome - diagnosis; Female; Fluorescence; Humans; Male; Polymerase Chain Reaction - methods; Pregnancy; Prenatal Diagnosis - methods; 染色体; 荧光定量分析; 诊断方法; heterozygosity; fluorescent quantitative multiplex polymerase chain reaction; Down syndrome; prenatal diagnosis
• ISSN: 0366-6999; 2542-5641
• DOI: 10.1097/00029330-200603020-00016

Trisomy 21, also named Down syndrome was the most frequent autosomal aneuploidy and the most common cause of mental retardation. Fifty percent patients had congenital heart malformation. Every 20 minutes one case of trisomy 21 was born, and the incidence rate was 1 in 600 to 800 newborns in China.1 In two thirds of cases with trisomy 21, there was a spontaneous abortion, so the actual incidence was higher than that obtained postnatally.