Bian Xu-Ming, Guo Qi, Qi Qing-Wei
Department of Obstetrics and Gynecology, Peking Union Medical College Hospital, Beijing, 100730, China.
Front Med China. 2010 Sep;4(3):271-4. doi: 10.1007/s11684-010-0100-z. Epub 2010 Aug 10.
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.
产前筛查与诊断是控制出生缺陷的主要手段,出生缺陷在中国是一个非常重要的问题。在此,我们回顾中国大陆产前筛查与诊断的现状与发展,包括胎儿染色体异常的产前筛查与产前诊断、非侵入性产前诊断技术以及单基因病、多基因病和先天性代谢病的产前诊断。我们还讨论了中国出生缺陷和遗传病的流行病学以及产前诊断相关的伦理问题。