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目的 分析探讨超声监测颈项透明层(NT)厚度在胎儿染色体异常中的诊断价值.方法 选取2013年1月-2016年12月在该院行孕早期(孕11～13+6周)超声检查的孕妇9 780例,对入选孕妇行超声测量,NT增厚胎儿行染色体核型分析,并追踪至出生后.结果 9 780例孕妇中有112例NT增厚(NT≥2.5 mm),发生率为1.15％.检测出染色体异常者19例,染色体异常发生率为16.96％,其中染色体数目异常15例,染色体结构异常4例.染色体数目异常患儿中发生率最高的是21-三体综合征(9例,60.00％).染色体核型异常患儿中,各个年龄段产妇比较差异有统计学意义(P＜0.05),其中以年龄＞35岁产妇染色体异常检测率居高(30.23％);出生婴儿性别比较,差异有统计学意义(P＜0.0l),其中以女性胎儿染色体异常检测率居高(30.0％);NT厚度比较差异有统计学意义(P＜0.05),其中以NT＞5.5 mm者染色体异常检测率居高(35.71％).NT增厚与染色体异常呈正相关(r=-0.286,P=0.001).Logistic回归分析结果显示,随着NT厚度测量值的增加,胎儿染色体异常的发病风险也明显增加.结论 在孕早期通过超声监测胎儿NT厚度筛查胎儿染色体异常具有重要的临床价值,是产前筛查的重要指标之一.“,”Objective To analyze the value of nuchal translucency thickness under ultrasonic monitoring in diagnosis of fetal chromosomal abnormalities.Methods A total of 9 780 pregnant women receiving ultrasonography during the first trimester of pregnancy (11-13+6 gestational weeks) in Affiliated Hospital of Inner Mongolia Medical University from January 2013 to December 2016 were selected,nuchal translucency thickness was measured by ultrasound,the fetuses with thickened nuchal translucency underwent chromosomal karyotyping,then all the cases were followed up after birth.Results Among 9 780 pregnant women,112 cases were found with nuchal translucency thickening (≥2.5 mm),the incidence rate was 1.15％.Nineteen cases were found with chromosomal abnormalities,the incidence rate was 16.96％,including 15 cases with numerical abnormalities of chromosomes and 4 cases with chromosomal structural abnormalities.Among the cases with numerical abnormalities of chromosomes,the incidence rate of trisomy 21 syndrome was the highest (9 cases,60.00％).Among the cases with abnormal chromosomal karyotypes,there was statistically significant difference among the pregnant women in different age groups (P＜0.05),the detection rate of chromosomal abnormalities among pregnant women more than 35 years was high (30.23％).There was statistically significant difference in sex ratio at birth (P＜0.01).The detection rate of chromosomal abnormalities among female fetuses was high (30.0％).There was statistically significant difference in nuchal translucency thickness (P＜0.05).The detection rate of chromosomal abnormalities among the cases with nuchal translucency thickness＞5.5 mm was high (35.71％).Nuchal translucency thicking was positively correlated with chromosomal abnormalities (r=-0.286,P=0.001).Logistic regression analysis showed that the risk of fetal chromosomal abnormalities increased significantly with the increase of nuchal translucency thickness.Conclusion Ultrasonic monitoring of nuchal translucency thickness during the first trimester of pregnancy has important clinical value,which is an important indicator of prenatal screening.