胎儿颜面部畸形的超声检测与其染色体异常的相关分析  

Ultrasound Detection of Fetal Facial Abnormalities and Analyzing Their Association with Chromosomal Abnormalities

作　　者：张洁[1] 张云山[1] 朱海燕[1] 任贺[1] 

机构地区：[1]安徽医科大学海军临床学院,北京市100048

出　　处：《中国超声医学杂志》2017年第2期153-156,共4页Chinese Journal of Ultrasound in Medicine

摘　　要：目的探讨超声在诊断胎儿颜面畸形中的应用价值及胎儿颜面部畸形与染色体异常的关联性。方法对产前筛查的5 700例孕妇的超声检查结果、引产及生产随访结果及染色体检查结果进行回顾性分析。结果 (1)本研究中的5 700例中,检出胎儿颜面部畸形24例(0.42%),与引产后的标本比较或电话随访,超声诊断符合率为100%;(2)检出的24例胎儿颜面部畸形包括唇腭裂、小下颌畸形、耳低位、无眼畸形、鼻骨缺失,其中22例行染色体检查,结果16例为正常(72.7%),4例羊水穿刺证实为18三体(18.2%)、2例为21三体(9.1%)。颜面部畸形与具备高危因素但颜面部正常的胎儿染色体异常发生率的比较具有统计学意义。结论超声对于胎儿颜面部畸形的检测有着重要的意义,胎儿颜面部畸形与胎儿染色体异常存在着相关性,检出胎儿颜面部畸形者有必要做进一步的染色体检查。Objective To investigate the value of ultrasonography in the diagnosis of fetal facial malformations and the correlation between the abnormal fetal facial abnormalities and chromosomal abnormalities. Methods 5700 pregnant woman were retrospectively analyzed, including the prenatal screening results of ultrasonography, induction of labor, production follow-up results and chromosome examination results. Results （1） In 5700 cases, fetal facial malformations were detected in 24 cases （0.42%）, with the induction of labor after the specimens or telephone follow-up, the ultrasound diagnosis coincidence rate was 100%. （2） Fetal facial malformations were included cleft lip and palate, micrognathia deformity, low set ears, eye deformity, and 22 patients received chromosomal examination. 16 patients were normal （72.7%）, 4 cases of amniotic fluid puncture were confirmed as trisomy 18 （18.2%） and 2 cases were trisomy 21 （9.1 %）. There was a statistical significance between the incidence of fetal chromosomal abnormalities in the normal facial with high risk factors and facial abnormalities. Conclusions Ultrasound has important value in the detection of fetal facial malformations. There has correlation in fetal facial malformations and fetal chromosomal anomaly, when fetal facial malformations is detected, it is necessary to do further chromosome examination.

关 键 词：超声 颜面部畸形 染色体 

分 类 号：R445.1[医药卫生—影像医学与核医学] R714.5[医药卫生—诊断学]