产前筛查是预防出生缺陷的第2道关键防线,必要的产前常规筛查是杜绝出生缺陷的手段.采用血清学对唐氏综合征妊娠早期筛查和妊娠中期联合筛查,神经管畸形筛查,分子生物技术对地中海贫血的筛查及确诊,产前超声对胎儿体表、内脏器官及骨骼畸形等先天性疾病筛查,从中发现高风险人群.并以生物遗传因素技术为主导,选择适时的产前诊断,提高对胎儿先天性缺陷和遗传性疾病的检出率.加强对高风险人群的质控与管理,对不良妊娠结局提出预见性临床干预及实施新的管理模式,降低出生缺陷,提高人口素质.%Prenatal screening is the secondary prevention which aims to prevent birth-defect,thus a routine prenatal screening programme is necessary for pregnant women. The prenatal screening programme includes serological screening for Down＇s syndrome and NTD during the 1st and 2nd trimester,molecular biology screening and diagnosis for thalassemia disease,and prenatal sonographic diagnosis of any defects in fetus＇ body surface,organs and skeleton as well as congenital diseases to identify the high-risk population. The screening programme is based on genetic factors to select the optimal period for prenatal diagnosis in order to enhance the detection rate for congenital defect and genetic disorder, strengthen the quality control and management of high-risk population, and develop predictive clinical intervention for adverse pregnancy outcomes. The ultimate goal of prenatal screening programme is to reduce birthdefect rate and to improve population＇s quality.
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