早孕期鼻骨缺失联合颈项透明层检测在筛查染色体异常中的临床意义  

Clinical significance of absent nasal bone at early pregnancy combined with nuchal translucency screening in prenatal diagnosis of fetal chromosomal abnormalities

作　　者：吴斯瑶 余勇[1] 黄秀玲[1] 陈秋妍[1] 郭红梅[1] 李玉娟[1] 徐秋红[1] WU Siyao;YU Yong;HUANG Xiuling;CHEN Qiuyan;GUO Hongmei;LI Yujuan;XU Qiuhong(Department of Ultrasound,Dongguan Maternal and Child Health Hospital,Guangdong 523000,China)

机构地区：[1]广东省东莞市妇幼保健院超声科

出　　处：《临床超声医学杂志》2019年第8期616-619,共4页Journal of Clinical Ultrasound in Medicine

基　　金：东莞市科技计划立项课题(201750715007175)

摘　　要：目的探讨孕11~13+6周鼻骨缺失联合颈项透明层(NT)检测在产前诊断胎儿染色体异常中的临床意义。方法回顾性分析225例孕11~13+6周超声筛查发现鼻骨缺失的单胎胎儿,根据其NT测值,将其分为NT增厚组(≥3 mm)51例与NT正常组(<3 mm)174例,分析并比较两组胎儿染色体异常检出率。结果 NT增厚组核型分析检出染色体异常36例(70.59%),包括21-三体23例(45.10%),18-三体10例(19.61%),13-三体、45,X、46,XN,del(4)(p15.2)各1例(均1.96%);NT正常组核型分析检出染色体异常23例(13.22%),包括21-三体12例(6.90%),18-三体5例(2.88%),染色体多态性4例(2.30%),13-三体和47,XYY各1例(均0.57%)。NT增厚组染色体异常检出率显著高于NT正常组,差异有统计学意义(χ2=67.098,P<0.001);NT增厚组21-三体和18-三体检出率显著高于NT正常组,差异均有统计学意义(χ2=43.817、17.750,均P<0.001)。结论早孕期鼻骨联合NT超声检测能在早孕期提示胎儿染色体异常,尤其对21-三体及18-三体的诊断有着重要参考价值。Objective To explore the clinical significance of absent nasal bone at 11~13+6 weeks of pregnancy combined with nuchal translucency screening in prenatal diagnosis of fetal chromosomal abnormalities.Methods Retrospective analysis of 225 cases of 11 to 13+6 weeks of ultrasound screening revealed a single fetus with absent nasal bone. According to their NT measurement,they were divided into NT thickening group(≥3 mm)with 51 cases and NT normal group(<3 mm)with174 cases,analysis and comparison of fetal chromosomal abnormalities in two groups were conducted.Results In the NT thickening group,chromosomal abnormalities were detected in 36 cases(70.59%),including 23 cases of 21-trisomy(45.10%),10 cases of 18-trisomy(19.61%),13-trisomy,45,X,46,XN,del(4)(p15.2)detected 1 case each(1.96%).In NT normal group,karyotype analysis detected chromosomal abnormalities in 23 cases(13.22%),including 12 cases of 21-trisomy(6.90%),5 cases of 18-trisomy(2.88%),4 cases of chromosome polymorphism(2.30%),13-trisomy,47 and XYY detected 1 case each(0.57%).The detection rate of chromosomal abnormalities in the NT thickening group was significantly higher than that in the NT normal group,the difference was statistically significant(χ2=67.098,P<0.001). 21-trisomy and 18-trisomy detection rate in the NT thickening group were significantly higher than those in NT normal group,the differences were statistically significant(χ2=43.817,17.750,both P<0.001).Conclusion Ultrasound examination of the nasal bone combined with nuchal translucency in early pregnancy can indicate fetal chromosomal abnormalities in early gestational weeks,especially for 21-trisomy and18-trisomy.

关 键 词：超声检查 鼻骨缺失 颈项透明层 染色体异常 

分 类 号：R445.1[医药卫生—影像医学与核医学] R714.53[医药卫生—诊断学]