孕11～14周静脉导管A波倒置在胎儿染色体异常中的筛查价值

Screening Value of Reversed A-wave in Fetal Ductus Venosus with Ultrasound on Chromosome Abnormalities at 11-14 Weeks Gestation

目的 探讨孕11～14 周胎儿静脉导管A波倒置在胎儿染色体异常筛查中的临床应用价值. 方法 对11～14周的孕妇行常规产前检查,并进行静脉导管血流频谱和颈项透明层厚度检测. 随访A波倒置或颈项透明层增厚胎儿的羊水穿刺培养染色体核型检查结果. 结果 656例胎儿中,共28例异常,其中静脉导管A波倒置21例,颈项透明层增厚19例,两者共同异常12例;随访28例胎儿染色体核型,其中17例染色体异常,14例21-三体,2 例18-三体,1 例9号染色体结构异常;DV-RAW对胎儿染色体异常敏感性为82. 35%,特异性为36. 36%,准确度为64. 29%;而NT增厚方法胎儿染色体异常敏感性为76. 47%,特异性为45. 45%,准确度为64. 29%;DV-RAW联合NT作为诊断指标,敏感性为58. 82%,特异性为81. 82%,准确度为67. 86%. 结论 11～14周胎儿静脉导管A波倒置可作为胎儿染色体异常的早期筛查指标,能协助早期诊断胎儿染色体核型异常.

Objective To explore the clinical application value of the reversed A-wave in fetal ductus venosus assessed by ultrasound at 11～14 weeks gestation on screening fetal chromosomal abnormalities. Methods Regular antenatal examination was performed on pregnant women of 11～14 weeks gestation. The Doppler spectrum of the ductus venosus and the size of nuchal trans-lucency were conducted. The results of amniotic fluid puncture cultivate karyotype examination and the DV-RAW or NT thickening were followed up. Results Among 656 cases,DV-RAW were found in 21 cases,NT thickening were found in 19 cases,both in abnormalities were found in 12 cases. After followed-up of fetal chromosomal karyotype in 28 cases, chromosomal abnormalities were found in 17 cases,the trisomy 21 syndrome were found in 14 cases,Edwards＆#39; syndrome were found in 2 cases and 9 chromo-some structural abnormality was found only in 1 case. The sensitivity of DV-RAW in the detection of fetal chromosomal abnormali-ties was 82. 35%,the specificity was 36. 36% and the accuracy was 64. 29%. The sensitivity of NT thickening method in fetal chromosomal abnormalities was 76. 47%,the specificity was 45. 45% and the accuracy was 64. 29%. When combined the DV -RAW and NT methods,the diagnostic sensitivity was 58. 82%,the specificity was 81. 82% and the accuracy was 67. 86%. Con-clusion The reversed A-wave in fetal ductus venosus at 11～14 weeks gestation showed to be helpful in the early screening for fe-tal chromosomal abnormalities,and might help the early diagnosis of fetal abnormal chromosome karyotype.