我国是出生缺陷高发国家,其发生率在4%～6%,它不仅是围产儿死亡的主要原因,也是婴幼儿发病与死亡的主要原因,还是成年人严重致残的重要原因。产前筛查是出生缺陷二级预防干预的重要内容,通过对母体血清学、影像学等无创检查方法,对普通妊娠妇女进行筛查,从中筛查出可能孕有异常胎儿的高危孕妇,并进行产前诊断,及早发现异常胎儿,及 China is a country with high incidence of birth defects, its incidence rate of 4% to 6%, which is not only the main cause of perinatal deaths, but also the main cause of infant and child morbidity and mortality, or an important cause of serious disability in adults. Prenatal screening is an important part of secondary prevention of birth defects. Through non-invasive examination of maternal serology and imaging, ordinary pregnant women are screened out and high-risk pregnant women who may have abnormal fetus are screened out. Prenatal diagnosis, early detection of abnormal fetuses, and