中孕期胎儿颈部皮肤皱褶增厚预测染色体异常的价值  

Predictive value of fetal nuchal fold thickening during the second trimester of pregnancy for chromosomal abnormalities

作　　者：陈冬丽[1] 宋鑫[2] 

机构地区：[1]华中科技大学同济医学院生殖医学中心,湖北武汉430013 [2]湖北医药学院附属十堰市太和医院妇产科B超室,湖北十堰442000

出　　处：《中国妇幼保健》2017年第6期1251-1253,共3页Maternal and Child Health Care of China

摘　　要：目的探讨中孕期胎儿颈部皮肤皱褶(NF)增厚预测染色体异常的临床价值。方法抽取2014-2015年来医院做超声筛查后发现胎儿NF增厚的150例中孕期孕妇作为研究对象,对其进行羊水或脐血核型分析,对比分析单纯性NF增厚和NF增厚合并其他超声异常指标胎儿的异常染色体检出率。结果 150例NF增厚胎儿中19例被检出染色体异常,染色体异常检出率为12.67%,包括16例21-三体,1例13-三体和2例X单体。其中89例单纯性NF增厚胎儿中3例染色体异常(3.37%),染色体异常核型全部为21-三体;61例NF增厚合并其他超声异常胎儿中16例染色体异常(26.23%),异常检出率远远高于单纯性NF增厚的胎儿,差异有统计学意义(P<0.01),染色体异常核型以21-三体为主,其次为X单体和13-三体。结论 NF增厚是筛查胎儿染色体异常的重要软指标,尤其对21-三体的敏感性极高;当合并其他超声异常指征时,出现染色体异常的风险性显著增加。Objective To explore the clinical value of fetal nuchal fold thickening during the second trimester of pregnancy for predicting chromosomal abnormalities.Methods A total of 150 pregnant women during the second trimester of pregnancy were found with fetal nuchal fold thickening by ultrasound screening in the hospital from 2014 to 2015,then amniotic fluid or umbilical cord blood karyotyping was conducted,the detection rates of chromosomal abnormalities in fetuses with idiopathic nuchal fold thickening and nuchal fold thickening complicated with other abnormal ultrasonic indicators were compared and analyzed.Results Nineteen cases were found with fetal chromosomal abnormalities,the detection rate was 12.67%,including 16 cases with trisomy 21 syndrome,1 case with trisomy 13 syndrome,and 2 cases with monomer X.Among 89 cases with idiopathic nuchal fold thickening,3 cases were found with fetal chromosomal abnormalities（trisomy21 syndrome）.Among 61 cases with nuchal fold thickening complicated with other abnormal ultrasonic indicators,16 cases（26.23%）were found with fetal chromosomal abnormalities,the detection rate was statistically significantly higher than that in the cases with idiopathic nuchal fold thickening（P〈0.01）,the main type was trisomy 21 syndrome,followed by monomer X and trisomy 13 syndrome.Conclusion Nuchal fold thickening is one of the important soft indicators in screening of fetal chromosomal abnormalities,especially for trisomy 21 syndrome;the risk of fetal chromosomal abnormalities increases significantly when combining with other abnormal ultrasonic indications.

关 键 词：颈部皮肤皱褶 染色体异常 中孕期 胎儿 

分 类 号：R714[医药卫生—妇产科学]