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目的探讨孕中期血清学筛查联合胎儿系统超声检查在出生缺陷干预中的应用价值。方法充分发挥广州市人口和计划生育三级服务网络优势,自2007年9月起对黄埔区、番禺区、增城区及天河区孕中期妇女(14-20+6周)进行唐氏综合征筛查,唐氏征筛查高风险的孕妇接受羊水或脐血染色体核型分析,所有孕妇在18-24周接受胎儿系统超声检查,B超筛查提示染色体异常孕妇行胎儿染色体核型分析,每例孕妇追踪随访至胎儿出生。结果在筛查的26 959例孕妇中,唐氏征筛查高风险2098例,其中1227例接受羊水染色体核型分析检查,染色体异常28例。胎儿系统超声检查发现胎儿畸形192例。结论唐氏综合征筛查联合胎儿系统超声检查是进行出生缺陷干预的有效手段。
Objective To explore the value of mid-pregnancy serological screening combined with fetal ultrasound examination in the intervention of birth defects. Methods Give full play to Guangzhou population and family planning three service network advantages, since September 2007 on the pregnant women of Huangpu District, Panyu District, Zengcheng District and Tianhe District (14-20 +6 weeks) Down Syndrome screening All pregnant women underwent fetal ultrasound examination at 18-24 weeks, B-screening revealed fetal chromosomal karyotype analysis of pregnant women with chromosomal abnormalities, each Pregnant women were followed up until the fetus was born. Results Among 26 959 pregnant women screened, 2098 cases of Down’s syndrome were screened with high risk, among which 1227 cases were examined by amniotic fluid chromosome karyotype analysis and 28 cases were chromosomal abnormalities. Fetal system ultrasound examination revealed 192 cases of fetal malformations. Conclusion Down Syndrome screening combined with fetal ultrasound examination is an effective means of intervention for birth defects.