Please wait a minute...
Frontiers of Medicine

ISSN 2095-0217

ISSN 2095-0225(Online)

CN 11-5983/R

Postal Subscription Code 80-967

2018 Impact Factor: 1.847

Front Med Chin    2010, Vol. 4 Issue (3) : 271-274     DOI: 10.1007/s11684-010-0100-z
Current situation and development of prenatal diagnosis in China
Xu-Ming BIAN(), Qi GUO, Qing-Wei QI
Department of Obstetrics and Gynecology, Peking Union Medical College Hospital, Beijing 100730, China
Download: PDF(73 KB)   HTML
Export: BibTeX | EndNote | Reference Manager | ProCite | RefWorks

Prenatal screening and diagnosis are major methods for control of birth defects, which is a very important problem in China. Here, we review current situation and development of prenatal screening and diagnosis in mainland China, including prenatal screening and prenatal diagnosis of fetal chromosome abnormalities, non-invasive prenatal diagnostic techniques and prenatal diagnosis of monogenic diseases, polygenic disease and congenital metabolic diseases. We also discuss epidemiology of birth defects and genetic diseases in China and related ethical issues of prenatal diagnosis.

Keywords prenatal diagnosis      prenatal screening      China     
Corresponding Authors: BIAN Xu-Ming,   
Issue Date: 05 September 2010
URL:     OR
1 Bian X M, Liu J T, Qi Q W, Jiang Y L, Li Y, Liu S Y, Hao N, Zhou J, Lü S M, Zhu B S, Wang H, Xu Z F, Pan X Y, Liao C, Cai Y, Wang H, Wang Z, Zhu J, Hu Y L. Second trimester maternal serum screening for Down’s syndrome in mainland China: a multi-center prospective study. Zhonghua Fu Chan Ke Za Zhi , 2008, 43(11): 805-809 (in Chinese)
2 Cowans N J, Spencer K. First-trimester ADAM12 and PAPP-A as markers for intrauterine fetal growth restriction through their roles in the insulin-like growth factor system. Prenat Diagn , 2007, 27(3): 264-271
doi: 10.1002/pd.1665
3 Wald N J, Rodeck C, Hackshaw A K, Rudnicka A. SURUSS in perspective. BJOG , 2004, 111(6): 521-531
4 Malone F D, Canick J A, Ball R H, Nyberg D A, Comstock C H, Bukowski R, Berkowitz R L, Gross S J, Dugoff L, Craigo S D, Timor-Tritsch I E, Carr S R, Wolfe H M, Dukes K, Bianchi D W, Rudnicka A R, Hackshaw A K, Lambert-Messerlian G, Wald N J, D'Alton M E; First- and Second-Trimester Evaluation of Risk (FASTER) Research Consortium. First-trimester or second-trimester screening, or both, for Down’s syndrome. New Engl J Med , 2005, 353(19): 2001-2011
doi: 10.1056/NEJMoa043693
5 Poon L L, Leung T N, Lau T K, Chow K C, Lo Y M D. Differential DNA methylation between fetus and mother as a strategy for detecting fetal DNA in maternal plasma. Clin Chem , 2002, 48(1): 35-41
6 Li L, Zhou Y Q, Xiao Q Z, Yan T Z, Xu X M. Development and evaluation of a reverse dot blot assay for the simultaneous detection of six common Chinese G6PD mutations and one polymorphism. Blood Cells Mol Dis , 2008, 41(1): 17-21
doi: 10.1016/j.bcmd.2008.01.007
7 Yi P, Yu F, Huang S, Zhong C, Li Q, Yang Y, Zhang W, Xiao C, Xu X. Identification of a novel frameshift mutation at codon 53 (-T) in the beta-globin gene causing dominantly inherited beta-thalassemia in a Chinese Miao family. Blood Cells Mol Dis , 2008, 41(1): 56-59
doi: 10.1016/j.bcmd.2008.02.001
8 Zeng F, Ren Z R, Huang S Z, Kalf M, Mommersteeg M, Smit M, White S, Jin C L, Xu M, Zhou D W, Yan J B, Chen M J, van Beuningen R, Huang S Z, den Dunnen J, Zeng Y T, Wu Y. Array-MLPA: comprehensive detection of deletions and duplications and its application to DMD patients. Hum Mutat , 2008, 29(1): 190-197
doi: 10.1002/humu.20613
9 Yin S, Na Q, Chen J, Li-Ling J, Liu C. Contribution of MRI to detect further anomalies in fetal ventriculomegaly. Fetal Diagn Ther , 2010, 27(1): 20-24
doi: 10.1159/000260389
[1] Huiqin Zhong,Ya Shao,Ling Fan,Tangshen Zhong,Lu Ren,Yan Wang. Perceived resource support for chronic illnesses among diabetics in north-western China[J]. Front. Med., 2016, 10(2): 219-227.
[2] Xijin Xu,Xiang Zeng,H. Marike Boezen,Xia Huo. E-waste environmental contamination and harm to public health in China[J]. Front. Med., 2015, 9(2): 220-228.
[3] Lizhe Ai, Yaqin Yu, Xiaoli Liu, Chong Wang, Jieping Shi, Hui Sun, Qiong Yu. Are the SNPs of NKX2-1 associated with papillary thyroid carcinoma in the Han population of Northern China?[J]. Front Med, 2014, 8(1): 113-117.
[4] Xiangwei Li, Yu Yang, Jianmin Liu, Feng Zhou, Wei Cui, Ling Guan, Fei Shen, Cong Gao, Mufei Li, Qi Jin, Lei Gao. Treatment outcomes of pulmonary tuberculosis in the past decade in the mainland of China: a meta-analysis[J]. Front Med, 2013, 7(3): 354-366.
[5] Wei Li, Shan Lu, Zhigang Cui, Jinghua Cui, Haijian Zhou, Yiqing Wang, Zhujun Shao, Changyun Ye, Biao Kan, Jianguo Xu. PulseNet China, a model for future laboratory-based bacterial infectious disease surveillance in China[J]. Front Med, 2012, 6(4): 366-375.
[6] Kai Gao, Junzhi Wang. The biopharmaceutical industry in China: history and future perspectives[J]. Front Med, 2012, 6(2): 101-111.
[7] Zhiping Yang, Qiong Wu, Kaichun Wu, Daiming Fan. Scientific publications on systematic review and meta-analysis from Chinese authors: a 10-year survey of the English literature[J]. Front Med, 2012, 6(1): 94-99.
[8] Min ZHANG, Hong SHANG, Zhe WANG, Wei-Guo CUI, Qing-Hai HU. Natural history of HIV infection in former plasma donors in rural China[J]. Front Med Chin, 2010, 4(3): 346-350.
[9] Li-Guang TIAN MPH, Jia-Xu CHEN PhD, Yu-Chun CAI BM, Jian GUO MPH, Xiao-Mei TONG, Qin LIU DVM, Xiao-Nong ZHOU PhD, Tian-Ping WANG PhD, Xiao-Mei YIN, Wei-Duo WU, Li ZHOU, Feng-Feng WANG, Zhen-Li WANG MSc, Guo-Jin CHENG, Peter STEINMANN PhD, Lan-Hua LI MSc, . Co-infection of HIV and parasites in China: Results from an epidemiological survey in rural areas of Fuyang city, Anhui province, China[J]. Front. Med., 2010, 4(2): 192-198.
[10] Jun-Jie XIAO MD, Yi-Han CHEN MD, PhD, . Prevalence of cardiovascular diseases in China[J]. Front. Med., 2010, 4(1): 16-20.
[11] Shilin DENG MD, Tongyuan LIU, . A survey of physical activity among urban women in China[J]. Front. Med., 2009, 3(4): 463-469.
[12] WANG Shiliang. Achievements in burn surgery over the past 50 years in China[J]. Front. Med., 2008, 2(4): 332-336.
[13] YAO Dingkang, ZHU Liang, YU Renqian, MEI Changlin. Current progress on internal medicine in China—2006 Part II[J]. Front. Med., 2007, 1(4): 343-351.
[14] YAO Dingkang, ZHU Liang, ZHAO Xue, MEI Changlin. Current progress on internal medicine in China—2006 Part I[J]. Front. Med., 2007, 1(3): 235-247.
Full text