【摘要】 目的：分析产前无创DNA检测联合颈项透明层厚度(NT)超声筛查胎儿染色体疾病的临床价值。方法：选取2021年5月—2023年5月于北京积水潭医院贵州医院行产前筛查的459例孕妇作为研究对象，所有孕妇均行无创DNA、NT超声检查，以羊水细胞染色体核型分析为检测的金标准，分析两种检查手段筛查胎儿染色体疾病的临床价值。结果：459例孕妇中，金标准共检出68例染色体异常胎儿，产前无创DNA联合NT超声共检出67例染色体异常，产前无创DNA共检出60例，NT超声共检出58例。产前无创DNA联合NT超声筛查胎儿染色体疾病的敏感度、准确度、阴性预测值均高于两者单独诊断，差异有统计学意义(P<0.05)；产前无创DNA联合NT超声与金标准的一致性极好(Kappa=0.974，P<0.001)。结论：产前无创DNA联合NT超声能够有效诊断出胎儿染色体疾病，具有一定的筛查价值。更多还原

【Abstract】 Objective:To analyze the clinical value of prenatal non-invasive DNA testing combined with nuchal translucency (NT) ultrasound screening for fetal chromosomal diseases.Method:A total of 459 pregnant women who underwent prenatal screening in Beijing Jishuitan Hospital Guizhou Hospital from May 2021 to May 2023 were selected as the study objects.All pregnant women underwent non-invasive DNA and NT ultrasound examination.The clinical value of the two examination methods for screening fetal chromosomal diseases were analyzed using chromosome karyotype analysis of amniotic fluid cells as the gold standard.Result:Among the 459 pregnant women,a total of 68 cases of chromosomal abnormalities were detected by gold standard,a total of 67 cases were detected by prenatal non-invasive DNA combined with NT ultrasound,a total of 60 cases were detected by prenatal non-invasive DNA,and a total of 58 cases were detected by NT ultrasound.The sensitivity,accuracy and negative predictive value of prenatal non-invasive DNA combined with NT ultrasound screening for fetal chromosome diseases were higher than those of the two diagnostic methods alone,and the differences were statistically significant (P<0.05).The agreement of prenatal non-invasive DNA combined with NT ultrasound with gold standard was excellent (Kappa=0.974,P<0.001).Conclusion:Prenatal non-invasive DNA combined with NT ultrasound can effectively diagnose fetal chromosomal diseases,and has certain screening value.更多还原