甘肃地区孕中期孕妇血清学指标联合超声影像筛查染色体异常胎儿的数据分析

Data analysis of screening abnormal chromosomal fetuses with serum biochemical markers and ultrasound imaging during mid-pregnancy in Gansu area

目的:探究采用孕中期孕妇血清学三联筛查联合超声影像检查方式在甘肃地区染色体异常胎儿筛查中的临床价值。方法:回顾性分析2015-01-01~2018-12-31于我院行产前检查的孕中期孕妇6257例的临床病例资料。489例孕妇筛查出高风险,其中431例采用血清学筛查显示高风险型(血清学组),58例采用血清学筛查联合超声检查显示结构异常(联合组)。439例采用高通量基因测序筛查,50例接受羊水穿刺检查进行胎儿染色体核型分析。比较血清学组和联合组的染色体异常胎儿检出率。结果:共筛查出高风险孕妇489例,阳性率7.82%(489/6257)。16例被筛查或诊断为染色体数目异常(21-三体综合征9例、18-三体综合征3例、13-三体综合征2例、性染色体异常2例);联合组7例染色体异常,检出率12.07%(7/58);血清学组9例染色体异常,检出率2.09%(9/431),联合组染色体异常检出率明显高于血清学组,差异有显著统计学意义(P<0.01)。结论:孕中期血清学三联筛查联合超声影像筛查可提高染色体异常胎儿的检出率,降低假阳性率,对甘肃地区产前筛查和诊断工作提供了临床参考。

Objective:To investigate the value of using serological triple screening of midpregnancy combined with ultrasound imaging in the screening of chromosomal abnormalities in fetuses in Gansu area.Methods:A total of 6 257 pregnant women in mid-pregnancy from 2015-01-01 to 2018-12-31 in our hospital were retrospectively analyzed.The 489 cases of pregnant women were screened for high risk,including 431 cases of high-risk type used serological screening(serological group)and 58 cases of the fetus structural anomalies was used serological screening combined with ultrasound examination(joint groups).The 439 cases were screened by high-throughput gene sequencing,50 cases were subjected to amniocentesis for fetal karyotype analysis,and the chromosomal abnormalities of the two groups were compared.Results:A total of 489 high-risk pregnant women were screened,with a positive rate of 7.82%(489/6 257).And 16 cases were screened or diagnosed with abnormal chromosome number(9 cases of 21-trisomy syndrome,3 cases of 18-trisomy syndrome,2 cases of 13-trisomy syndrome,2 cases of sex chromosome abnormality).Seven cases of joint group chromosomal abnormalities,the detection rate of chromosomal abnormalities was 12.07%(7/58),9 cases of chromosomal abnormalities in serological group,the detection rate of chromosomal abnormalities was 2.09%(9/431).The detection rate of chromosomal abnormalities in the joint group was significantly higher than that in the serological group,the difference was statistically significant(P <0.01).Conclusion:Mid-pregnancy serum triple screening combined with ultrasound imaging screening can improve the detection rate of chromosomal abnormalities,reduce the false positive rate,and provide a practical clinical reference for prenatal screening and diagnosis in Gansu.