348例胎儿颈项透明层增厚病例分析  

Analysis of 348 cases of fetal increased nuchal translucency

作　　者：张艳萍[1] 邓玉清[1] 钟世林[1] 薛利萍[1] 郑思阳[1] Zhang Yanping;Deng Yuqing;Zhong Shilin;Xue Liping;Zheng Siyang(Obstetrics and Gynecology Prenatal Diagnosis Center,Peking University Shenzhen Hospital,Shenzhen Guangdong 518036,P.R.China)

机构地区：[1]北京大学深圳医院妇产科产前诊断中心,广东深圳518036

出　　处：《中国计划生育和妇产科》2021年第12期30-34,共5页Chinese Journal of Family Planning & Gynecotokology

摘　　要：目的探讨颈项透明层(nuchal translucency,NT)增厚胎儿染色体异常风险情况,对临床咨询提供指导意见。方法回顾性分析2018年3月至2020年3月于北京大学深圳医院产前诊断中心因孕期超声发现胎儿NT增厚进一步行介入性产前诊断的348例孕妇临床资料,研究其NT增厚不同情况、是否合并其他超声异常与染色体核型和染色体微阵列分析(chromosomal microarray analysis,CMA)的关系。通过χ^(2)检验比较其关系。结果348例NT增厚胎儿共检出染色体核型异常60例,占17.24%(60/348),其中致病性异常57例,占16.38%(57/348)。CMA结果异常121例,其中CMA致病性异常56例,占16.09%(56/348),意义不明确65例。按照胎儿NT值增厚情况将其分为2.5 mm≤NT<3.0 mm、3.0 mm≤NT<3.5 mm、3.5 mm≤NT<4.0 mm、4.0 mm≤NT<4.5 mm、4.5 mm≤NT<5.0 mm、≥5.0 mm共6组,其染色体致病性异常发生率分别为8.33%、9.80%、23.26%、27.27%、26.32%、63.16%;CMA致病性异常发生率分别为7.58%、10.78%、20.93%、27.27%、26.32%、63.16%;随着NT值增厚,其染色体核型异常及CMA致病性异常发生率均呈增高趋势,差异有统计学意义(χ^(2)=43.355,P<0.001;χ^(2)=45.661,P<0.001),NT≥5.0 mm时胎儿染色体异常率及CMA致病性异常率明显增高(χ^(2)=29.695,P<0.001;χ^(2)=32.836,P<0.001)。胎儿NT增厚合并其他超声异常组,其染色体异常及CMA致病性异常率高于单纯NT增厚组(χ^(2)=42.066,P<0.001;χ^(2)=46.876,P<0.001)。结论胎儿NT厚度不仅可提示胎儿染色体异常,还可能与胎儿结构发育异常、地中海贫血等相关,且随着NT值增高其染色体及CMA异常发生率呈增高趋势。针对NT增厚病例应进一步建议介入性产前诊断排除胎儿染色体异常风险,对于NT临界增厚病例仍建议行产前诊断。Objective Explore the risk of chromosomal abnormalities in fetuses with increased nuchal translucency(NT),and provide guidance for clinical consultation.Methods A retrospective analysis of 348 pregnant women whose fetal NT was found to be thickened by ultrasound in the Prenatal Diagnosis Center of Peking University Shenzhen Hospital underwent interventional prenatal diagnosis.To study the relationship between NT thickening,other ultrasonic abnormalities and chromosome karyotype and chromosomal microarray analysis(CMA).The relationship was compared byχ^(2) test.Results In 348 cases of NT thickened fetuses,60 cases of chromosomal abnormalities were detected,accounting for 17.24%(60/348),of which 57 cases of pathogenic abnormalities,accounting for 16.38%(57/348).There were 121 cases with abnormal CMA results,of which 56 cases were pathogenic abnormal with CMA,accounting for 16.09%(56/348),and 65 cases were unclear.According to the thickening of fetal NT value,it can be divided into 2.5 mm≤NT<3.0 mm,3.0 mm≤NT<3.5 mm,3.5 mm≤NT<4.0 mm,4.0 mm≤NT<4.5 mm,4.5 mm≤NT<5.0 mm,≥5.0 mm groups,the incidence of chromosomal pathogenic abnormalities were 8.33%,9.80%,23.26%,27.27%,26.32%,and 63.16%;the incidence of CMA pathogenic abnormalities were 7.58%,10.78%,and 20.93%,27.27%,26.32%,63.16%respectively;With the increase of NT value,the incidence of abnormal karyotype and CMA pathogenic abnormalities showed an increasing trend,and the differences were statistically significant(χ^(2)=43.355,P<0.001;χ^(2)=45.661,P<0.001),the rate of fetal chromosomal abnormalities and CMA pathogenicity abnormalities increased significantly when NT≥5.0 mm(χ^(2)=29.695,P<0.001;χ^(2)=32.836,P<0.001).Fetal NT thickening combined with other ultrasound abnormalities had a higher rate of chromosomal abnormalities and CMA pathogenicity abnormalities than the simple NT thickening group(χ^(2)=42.066,P<0.001;χ^(2)=46.876,P<0.001).Conclusion Fetal NT thickness can not only indicate fetal chromosomal abnormalities,but may also be related to fe

关 键 词：颈项透明层增厚 染色体 微阵列 无创基因检测 

分 类 号：R714.5􀂕􀃬􀂌[医药卫生—妇产科学]