产前诊断是预防出生缺陷的重要措施,经过数十年的不懈努力与探索实践,我国产前诊断在网络建设、技术进步和普及以及服务能力等方面均取得很大的进步。从最初零星分散的产前诊断科室,发展到目前全国大部分地区初步形成的产前筛查-产前诊断-干预和出生缺陷监测工作的三级网络;从最初的唐氏综合征产前筛查与诊断技术,发展为更宽范围的胎儿遗传物质异常及形态学异常的产前诊断技术体系。但是,目前我国的产前诊断水平参差不齐,服务能力与群众要求还 Prenatal diagnosis is an important measure to prevent birth defects. After decades of unremitting efforts and exploration, prenatal diagnosis in our country has made great progress in network construction, technological progress and popularization and service capabilities. From the initial sporadic prenatal diagnosis department to the initial formation of prenatal screening in most parts of the country - prenatal diagnosis - intervention and birth defects monitoring of the three networks; from the initial screening of Down’s syndrome prenatal screen Investigation and diagnosis techniques, the development of a wider range of fetal genetic material abnormalities and morphological abnormalities prenatal diagnostic system. However, at present, the level of prenatal diagnosis in our country is uneven, and the service capacity and the mass demands are still high