Current situation and development of prenatal diagnosis in China

Xu-Ming BIAN, Qi GUO, Qing-Wei QI

PDF(73 KB)
PDF(73 KB)
Front. Med. ›› 2010, Vol. 4 ›› Issue (3) : 271-274. DOI: 10.1007/s11684-010-0100-z
REVIEW
REVIEW

Current situation and development of prenatal diagnosis in China

Author information +
History +

Abstract

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

Cite this article

Download citation ▾
Xu-Ming BIAN, Qi GUO, Qing-Wei QI. Current situation and development of prenatal diagnosis in China. Front Med Chin, 2010, 4(3): 271‒274 https://doi.org/10.1007/s11684-010-0100-z

References

[1]
BianX M, LiuJ T, QiQ W, JiangY L, LiY, LiuS Y, HaoN, ZhouJ, LüS M, ZhuB S, WangH, XuZ F, PanX Y, LiaoC, CaiY, WangH, WangZ, ZhuJ, HuY 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]
CowansN J, SpencerK. 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
CrossRef Google scholar
[3]
WaldN J, RodeckC, HackshawA K, RudnickaA. SURUSS in perspective. BJOG, 2004, 111(6): 521-531
[4]
MaloneF D, CanickJ A, BallR H, NybergD A, ComstockC H, BukowskiR, BerkowitzR L, GrossS J, DugoffL, CraigoS D, Timor-TritschI E, CarrS R, WolfeH M, DukesK, BianchiD W, RudnickaA R, HackshawA K, Lambert-MesserlianG, WaldN J, D'AltonM 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
CrossRef Google scholar
[5]
PoonL L, LeungT N, LauT K, ChowK C, LoY 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]
LiL, ZhouY Q, XiaoQ Z, YanT Z, XuX 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
CrossRef Google scholar
[7]
YiP, YuF, HuangS, ZhongC, LiQ, YangY, ZhangW, XiaoC, XuX. 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
CrossRef Google scholar
[8]
ZengF, RenZ R, HuangS Z, KalfM, MommersteegM, SmitM, WhiteS, JinC L, XuM, ZhouD W, YanJ B, ChenM J, van BeuningenR, HuangS Z, den DunnenJ, ZengY T, WuY. Array-MLPA: comprehensive detection of deletions and duplications and its application to DMD patients. Hum Mutat, 2008, 29(1): 190-197
CrossRef Google scholar
[9]
YinS, NaQ, ChenJ, Li-LingJ, LiuC. Contribution of MRI to detect further anomalies in fetal ventriculomegaly. Fetal Diagn Ther, 2010, 27(1): 20-24
CrossRef Google scholar

RIGHTS & PERMISSIONS

2014 Higher Education Press and Springer-Verlag Berlin Heidelberg
AI Summary AI Mindmap
PDF(73 KB)

Accesses

Citations

Detail

Sections
Recommended

/