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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 epidemiol-ogy of birth defects and genetic diseases in China and related ethical issues of prenatal diagnosis.