血清学筛查与胎儿超声检查在18、13三体综合征产前诊断中的临床应用

目的:评价利用孕妇血清学筛查与胎儿超声检查在18、13三体综合征胎儿产前诊断的价值。方法:对780例孕妇进行孕妇血清学筛查与胎儿超声检查,羊膜腔穿刺取羊水进行细胞培养染色体核型分析进行产前诊断。结果:780例胎儿中共发现6例18、13三体综合征,发生率为0.77%。其中3例18三体综合征,3例13三体综合征。3例18三体综合征血清学筛查高风险和超声结构异常,其余3例超声检查发现结构异常但血清学筛查为低风险。结论:孕妇血清筛查结合胎儿超声检查是产前检出18、13三体综合征胎儿的有效检查方法。

Clinical applications of serological screening and fetal ultrasonography for prenatal diagnosis of trisomy 18 and trisomy 13

Objective:To evaluate the values of serological screening and fetal ultrasonography in prenatal diagnosis of trisomy 18 and trisomy 13.Methods:A total of 780 pregnant women received serological screening and fetal ultrasonography,the samples of amnion fluid were obtained by amniocentesis,the cell culture and chromosomal karyotype analysis were conducted for prenatal diagnosis.Results:Among 780 fetuses,6 fetuses were found with trisomy 18 and trisomy 13,the incidence was 0.77%,including 3 fetuses with trisomy 18 and 3 fetuses with trisomy 13.Three fetuses with trisomy 18 were found with high risk of serological screening and abnormal ultrasonic structure;and the other three fetuses were found with abnormal ultrasonic structure and low risk of serological screening.Conclusion:Serological screening of pregnant women combined with fetal ultrasonography is an effective method to detect trisomy 18 and trisomy 13 before delivery.