超声联合无创产前基因检测早期筛查胎儿染色体异常的诊断价值

Diagnostic value of ultrasound combined with non-invasive prenatal genetic testing for early screening of fetal chromosomal abnormalities

目的探究胎儿染色体异常早期筛查中超声联合无创产前基因检测的应用价值。方法选取624例需行羊水细胞染色体核型检测的高危孕妇为研究对象,所有孕妇均行产前超声、无创产前基因检测及羊水细胞染色体核型检测。将羊水细胞染色体核型检测结果视为金标准,分析无创产前基因检测、单独超声检测与联合应用诊断胎儿染色体异常的准确率。结果超声联合无创产前基因检测诊断准确率为96.43%(54/56),明显高于超声检测的34.62%(54/156)、无创产前基因检测的83.87%(52/62),差异有统计学意义(P<0.05)。结论胎儿染色体异常早期筛查中采用超声联合无创产前基因检测的诊断价值显著,可提高筛查准确性。

Objective To investigate the application value of ultrasound combined with noninvasive prenatal genetic testing for early screening of fetal chromosomal abnormalities.Methods 642 high-risk pregnant women who required amniotic fluid karyotype testing were selected for the study,and all of them underwent prenatal ultrasound,noninvasive prenatal genetic testing,and amniotic fluid karyotype testing.The results of amniotic fluid karyotype testing were considered as the gold standard to analyze the accuracy of non-invasive prenatal genetic testing and ultrasound alone and in combination for the diagnosis of fetal chromosomal abnormalities.Results The diagnostic accuracy rate of ultrasound combined with noninvasive prenatal genetic testing was 96.43%(54/56),which was significantly higher than 34.62%(54/156)and 83.87%(52/62)of ultrasound alone and noninvasive prenatal genetic testing alone,and the difference was statistically significant(P<0.05).Conclusion The diagnostic value of ultrasound combined with non-invasive prenatal genetic testing in the early screening of fetal chromosomal abnormalities is significant,which can improve the accuracy of screening.