摘要
目的:探讨无创产前基因检测(NIPT)联合颈项透明层厚度(NT)检测在胎儿染色体非整倍体疾病中的诊断价值.方法:选取 2021 年 3 月至 2023 年 3 月于本院进行胎儿染色体疾病筛查的 108 例孕妇为研究对象.均行产前NIPT、NT检测及羊水穿刺.以羊水穿刺病理结果为"金标准",对比产前NT结果与病理检查结果,对比NIPT检测结果、联合检测结果与病理检查结果,对比单独与联合检测诊断效能.结果:108 例孕妇确诊胎儿染色体异常51 例,胎儿正常 57 例,NT诊断灵敏度为 78.43%、特异度为 61.40%、准确度为 69.44%.产前NIPT诊断灵敏度为90.20%、特异度为 75.44%、准确度为 82.41%;联合检测诊断灵敏度为 100%、特异度为 96.49%、准确度为 98.15%.联合诊断准确度、灵敏度、特异度、阳性预测值、阴性预测值显著高于单独诊断,误诊率、漏诊率显著低于两项检查单独诊断,差异均有统计学意义(P＜0.05).结论:产前NIPT联合NT检测可提高胎儿染色体非整倍体疾病的诊断效能,可作为临床有效筛查方式.
Abstract
Objective:To explore the diagnostic value of non-invasive prenatal testing(NIPT)combined with nuchal translucency thickness(NT)testing in the diagnosis of fetal chromosomal aneuploidy diseases.Methods:A total of 108 pregnant women who underwent fetal chromosomal disease screening in our hospital from March 2021 to March 2023 were selected as research subjects.All of them underwent prenatal NIPT,NT testing,and amniocentesis.The pathological results of amniocentesis were used as the"gold standard"to compare the prenatal NT results with the pathological results,and to compare the diagnostic efficacy of NIPT testing,combined testing,and single testing with combined testing.Results:In 108 pregnant women,51 cases were diagnosed with fetal chromosomal abnormalities and 57 cases were normal.The diagnostic sensitivity,specificity,and accuracy of NT were 78.43%,61.40%,and 69.44%,respectively.The diagnostic sensitivity,specificity,and accuracy of prenatal NIPT were 90.20%,75.44%,and 82.41%,respectively.The diagnostic sensitivity,specificity,and accuracy of combined testing were 100%,96.49%,and 98.15%,respectively.The accuracy,sensitivity,specificity,positive predictive value,and negative predictive value of combined diagnosis were higher than those of single diagnosis,and the misdiagnosis rate and missed diagnosis rate were significantly lower than those of single diagnosis of the two tests,and the differences were statistically significant(P＜0.05).Conclusion:Prenatal NIPT combined with NT testing can improve the diagnostic efficiency of fetal chromosomal aneuploidy diseases and can be used as an effective clinical screening method.
NETL
NSTL
万方数据