胎儿颜面部畸形的超声检测与其染色体异常的相关分析

发布时间：2018-04-01 02:32

本文选题：超声　切入点：颜面部畸形　出处：《中国超声医学杂志》2017年02期

【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。
[Abstract]:Objective to investigate the correlation of ultrasound in the diagnosis of fetal facial malformations and fetal facial malformations and chromosomal abnormalities. Methods the ultrasonographic results of 5700 pregnant women for prenatal screening, induction of labor and production follow-up and chromosome examination results were analyzed retrospectively. Results 5700 cases (1) in this study, detection the fetal facial malformations in 24 cases (0.42%), with the induction of the specimens after the comparison or telephone follow-up, ultrasound diagnosis coincidence rate was 100%; (2) 24 cases of fetal facial malformations including detection of cleft lip and palate, micrognathia, ear low, no eye abnormalities, including 22 cases of nasal bone absence, chromosome examination results 16 patients were normal (72.7%), 4 cases of amniotic fluid puncture confirmed trisomy 18 (18.2%), 2 cases of trisomy 21 (9.1%). The facial deformity and have high risk factors but normal face of fetal chromosome abnormality incidence was statistically significant. Ultrasound plays an important role in the detection of fetal facial malformations. There is a correlation between fetal facial malformations and fetal chromosomal abnormalities. It is necessary for us to do further chromosome examination to detect fetal facial deformities.

【作者单位】：安徽医科大学海军临床学院;
【分类号】：R445.1;R714.5

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