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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。
OBJECTIVE: To evaluate the value of prenatal diagnosis of fetuses using trisomy 18 and 13 using serological screening of pregnant women and fetal ultrasound. Methods: Prenatal diagnosis of 780 pregnant women with serological screening and fetal ultrasound examination and amniocentesis by amniocentesis were performed for cell culture karyotype analysis. Results: Sixty-eight cases of trisomy 18 were found in 780 fetuses with a rate of 0.77%. Three cases of trisomy 18 and three cases of trisomy 13. Three cases of trisomy 18 serological screening of high-risk and ultrasound structural abnormalities, the remaining three cases of structural abnormalities found in ultrasound but serological screening for low risk. Conclusion: Serum screening of pregnant women combined with fetal ultrasound is an effective method for prenatal detection of fetuses with trisomy 18,13.