颈项透明层增厚在产前诊断中的应用  

Application research of fetus with increased nuchal translucency in prenatal diagnosis

作　　者：黄婷婷[1] 周萍[1] 黎俏 邹永毅 刘艳秋[1] HUANG Tingting;ZHOU Ping;LI Qiao;ZOU Yongyi;LIU Yanqiu(Prenatal Diagnosis Center,Jiangxi Maternal and Child Health Hospital,Nanchang 330006,China)

机构地区：[1]江西省妇幼保健院产前诊断中心,南昌330006

出　　处：《实用医学杂志》2020年第15期2152-2156,共5页The Journal of Practical Medicine

基　　金：江西省卫生健康委科技计划项目(编号:20191102)。

摘　　要：目的探讨染色体微阵列分析(chromosomal microarray analysis,CMA)联合核型分析技术在颈部透明层(nuchal translucency,NT)增厚胎儿中的应用。方法选取在2017年1月至2019年10月因孕11~13+6周胎儿NT≥2.5 mm在江西省妇幼保健院产前诊断中心行产前诊断的孕妇208例,获取的胎儿标本行染色体核型分析及CMA检测。根据NT值分为5组,2.5~2.9 mm组29例(13.94%),3.0~3.9 mm组113例(54.33%),4.0~4.9 mm组35例(16.83%),5.0~5.9 mm组17例(8.17%),≥6.0 mm组14例(6.73%)。根据年龄分成两组,单纯NT≥2.5 mm组158例(75.96%)及高龄合并NT≥2.5 mm组50例(24.04%),用χ2检验比较不同NT值组间胎儿染色体异常的发生率。结果 208例标本中致病性染色体异常49例,阳性率23.56%,其中2.5~2.9 mm组5例(17.24%),3.0~3.9 mm组17例(15.04%),4.0~4.9 mm组14例(40%),5.0~5.9 mm组7例(41.18%),≥6.0 mm组6例(42.86%);高龄组致病性染色体异常检出率50%(25/50),显著高于低龄组致病性染色体异常检出率15.19%(24/158)。核型检测正常而CMA增加检出7例染色体拷贝数变异(copy number variants,CNVs),增加检出率4.35%(7/161)。结论妊娠早期胎儿NT厚度与染色体异常有密切关系,NT增厚可作为胎儿染色体异常介入性产前诊断的重要超声筛查指标。Objective To investigate the application for fetuses with increased nuchal translucency(NT)by chromosome microarray analysis(CMA)combined with karyotype analysis.Methods A total of 208 pregnant women with NT) 2.5 mm were selected for prenatal diagnosis in prenatal diagnosis center of Jiangxi Maternal and Child Health Hospital during January 2017 to October 2019.Fetal specimen obtained use the chromosome karyotype analysis and CMA detection.According to the thickness of NT,the patients were divided into 5 groups:2.5~2.9 mm(13.94%,29/208),3.0~3.9 mm(54.33%,113/2.08),4.0~4.9 mm(16.83%,35/2.08),5.0~5.9 mm(8.17%,17/208),and ≥ 6.0 mm(6.73%,14/208).According to the combination of Advanced age,the cases were divided into isolated group(75.96%,158/208) and complicated group(24.04%,50/208).χ~2 test was used to compare the incidence of fetal chromosomal abnormalities between different NT value groups.Results among the 208 samples,49 cases were pathogenic chromosomal abnormalities,the positive rate was 23.56%,5 cases(17.24%) in 2.5~2.9 mm group,17 cases(15.04%) in 3.0 ~3.9 mm group,14 cases(40%) in 4.0 ~4.9 mm group,7 cases(41.18%)in 5.0 ~5.9 mm group,6 cases(42.86%) in NT ≥ 6.0 mm group;There was a significant difference in the frequency of abnormal karyotype between the isolated and the complicated group(15.19% vs.50%,P <0.05).There were7 cases with abnormal CMA and normal chromosome karyotypes,Increasing detection rate 4.35%(7/161).Conclusion fetal NT thickness is closely related to chromosomal abnormalities in early pregnancy.NT thickening can be used as an important ultrasound screening index for interventional prenatal diagnosis of fetal chromosomal abnormalities.

关 键 词：颈项透明层 染色体微阵列分析 染色体核型分析 产前诊断 

分 类 号：R715.5[医药卫生—妇产科学]