中国产前诊断的现状与发展。

Frontiers of medicine in China Pub Date : 2010-09-01 Epub Date: 2010-08-10 DOI:10.1007/s11684-010-0100-z
Xu-Ming Bian, Qi Guo, Qing-Wei Qi
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引用次数: 9

摘要

产前筛查和诊断是控制出生缺陷的主要方法,这在中国是一个非常重要的问题。本文综述了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、无创产前诊断技术以及单基因疾病、多基因疾病和先天性代谢性疾病的产前诊断。我们还讨论了中国出生缺陷和遗传疾病的流行病学以及产前诊断的相关伦理问题。
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Current situation and development of prenatal diagnosis in China.

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.

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