【摘要】 目的探讨孕早期超声检测颈部透明层（nuchal translucency, NT）增厚与静脉导管（ductus venosus, DV）A波反向在筛查胎儿染色体异常中的价值。方法选择2016年1月～2018年6月在我院行11～13⁺⁶周超声筛查的3256例单胎妊娠孕妇为观察对象,常规检测颈项透明层厚度和静脉导管血流频谱,随访此两项指标异常胎儿的羊水细胞染色体核型分析结果。统计分析其在胎儿染色体异常中的筛查价值。结果共检出NT增厚且（或）静脉导管A波反向并在本院行羊膜腔穿刺术的孕妇168例,最终诊断胎儿染色体异常63例。其中44例21-三体综合征,14例18-三体综合征,2例13-三体综合征,1例Turner综合征,1例染色体微缺失,1例染色体微重复。140例NT增厚胎儿,检出染色体异常46例,灵敏度73.02%,特异度10.48%,准确度33.93%;68例DV异常胎儿,检出染色体异常33例,灵敏度52.38%,特异度66.67%,准确度61.31%;40例NT增厚且DV异常胎儿,检出染色体异常30例,灵敏度47.62%,特异度90.48%,准确度74.4%。结论 NT增厚联合静脉导管A波反向在筛查胎儿染色体异常中的准确度更高,具有重要的临床应用价值。更多还原

【Abstract】 Objective To investigate the value of early pregnancy ultrasound in detecting cervical hyaline layer nuchal translucency thickening and venous catheter ductus venosus A wave inversion in screening fetal chromosome abnormalities. Methods From January 2016 to June 2018, 3256 singleton pregnant women who were screened by ultrasound in our hospital from January 2016 to June 2018 were selected as the subjects. The thickness of the hyaline layer of neck and the blood flow spectrum of venous catheter were measured routinely. The results of chromosome karyotype analysis of amniotic fluid cells in abnormal fetuses were followed up. Statistical analysis of its screening value in fetal chromosomal abnormalities was conducted. Results Sixty-eight pregnant women with thickened NT and/or reverse A-wave of venous catheter underwent amniotic cavity puncture in our hospital, and 63 cases of fetal chromosome abnormality were diagnosed. Among them, 44 cases of 21-trisomy syndrome, 14 cases of 18-trisomy syndrome, 2 cases of 13-trisomy syndrome, 1 case of Turner syndrome, 1 case of chromosome microdeletion, 1 case of chromosome microduplication, 1 case of NT thickening fetus, 46 cases of chromosome abnormality were detected. The sensitivity, specificity and accuracy were 73.02%, 10.48% and 33.93% respectively. In 68 fetuses with abnormal DV, 33 cases with chromosomal abnormalities were detected with sensitivity 52.38%, 66.67%, 61.31%, 61.31% and 61.31% for NT thickening and abnormal DV fetus, the sensitivity, specificity and accuracy were 47.62%, 90.48% and 74.4%, respectively. Conclusion NT thickening combined with A wave inversion of venous catheter is more accurate in screening fetal chromosome abnormalities and has important clinical value.更多还原