超声软指标NT与NF检测对胎儿21-三体综合征产前诊断的价值

Value of nuchal translucency and nuchal fold in the prenatal diagnosis of fetal trisomy 21 syndrome

目的探讨超声软指标(USM)颈项透明层(NT)、颈后皮肤皱褶(NF)在产前筛查21-三体综合征中的应用价值。方法选取2015年7月至2017年8月在安康市妇幼保健院进行产前筛查的3 108例孕早、中期孕妇作为研究对象,通过USM筛查胎儿发生21-三体综合征的情况,以羊膜穿刺及羊水细胞染色体核型分析结果为金标准,通过四格表法计算NT、NF增厚对21-三体胎儿的诊断灵敏度、特异度。结果 3 108例孕妇经USM筛查中有NT阳性者61例(1.96%),NF阳性者53例(1.71%),NT+NF阳性者36例(1.16%);羊水细胞染色体核型分析结果共检出21-三体综合征16例,其中,NT阳性者中检出21-三体综合征4例(6.56%),NF阳性者检出21-三体综合征5例(9.43%);NT+NF阳性者检出21-三体综合征7例(19.44%);USM中NT、NF筛查诊断21-三体综合征的灵敏度为88.89%,特异度为95.66%。结论 USM中NT、NF均可用于产前筛查21-三体,NT+NF均增厚可增加21-三体的发生风险,USM诊断21-三体的特异度及灵敏度均较高。

Objective To evaluate the value of the ultrasound markers(USM) of nuchal translucency(NT) and nuchal fold(NF) for screening 21-trisomy syndrome(Down’s syndrome). Methods A total of 3 108 pregnant women,who were screened in Department of Health of Ankang Center for Disease Control and Prevention from July 2015 to August 2017, were selected as study subjects. USM screening was used to screen the fetus for 21 trisomy syndrome. The results of amniocentesis and karyotype analysis of amniotic fluid cells were taken as the gold standard. The sensitivity and specificity of NT, NF thickening in 21-trisomy fetus were calculated by four-grid method. Results Among 3 108 pregnant women, 61(1.96%) were NT positive, 53(1.71%) were NF positive, and 36(1.16%) were positive for NT and NF.Karyotype analysis of amniotic fluid cells showed that there were 16 cases of trisomy 21 syndrome, of which 4 cases were found in NT positive cases(6.56%), 5 cases were found in NF positive cases(9.43%), and 7 cases were found in NT and NF positive cases(19.44%). The sensitivity and specificity of USM of NT, NF screening for Down’s syndrome were respectively 88.89% and 95.66%. Conclusion USM of NT, NF can be used for prenatal screening of 21-trisomy syndrome, NT and NF thickening can increase the risk of 21-trisomy syndrome, and the specificity and sensitivity of USM in the diagnosis of 21-trisomy are higher.