胎儿颜面畸形超声检测的应用价值及其与染色体异常的相关性分析  

The application value of ultrasound detection of fetal facial deformity and its correlation with chromosomal abnormalities

作　　者：叶永明 魏奇龙 罗丽芳 YE Yong-ming;WEI Qi-long;LUO Li-fang(Huizhou Sixth People’s Hospital Huizhou,Guangdong516211)

机构地区：[1]惠州市第六人民医院

出　　处：《中国优生与遗传杂志》2019年第7期864-866,共3页Chinese Journal of Birth Health & Heredity

摘　　要：目的探究超声检测颜面部畸形的应用价值及其与染色体异常的相关性分析。方法选择2014年1月~2018年1月在我院进行产前超声检测的孕产妇5880例为研究对象,对所有对象进行超声检测,以最后胎儿出生回访结果与引产结果为参照标准,验证超声检测的准确度,并选取和颜面畸形相同例数的高风险孕妇及颜面畸形孕妇进行羊水穿刺术取样,分析染色体核型,比较颜面畸形和染色体异常的相关性。结果①5880例孕妇进行超声检查,共检查出54例颜面部畸形,经引产或正常分娩证实颜面部畸形58例;超声检测胎儿颜面畸形结果为唇裂有22例、唇腭裂15例、耳位低下10例、小下颚畸形4例、无眼畸形3例;随访证实胎儿颜面畸形结果为唇裂23例、唇腭裂16例、耳位低下11例、小下颚畸形5例、无眼畸形3例,两组对比差异不显著(P>0.05)。②超声检测结果与随访或引产证实颜面部畸形一致性较高(Kappa=0.946)。③颜面畸形21号染色体、18号染色体、其他染色体异常率分别为33.33%、25.93%、20.37%显著高于高风险胎儿的9.26%、1.85%、3.7%;超声检测颜面部畸形胎儿染色体的总异常率为79.63%显著高于高风险胎儿14.81%的异常率(χ2=45.511,P<0.05)。结论胎儿颜面畸形超声检测准确度高,并且胎儿颜面畸形和染色体异常的相关性也较高,染色体检查配合超声检测更能提高产前颜面畸形检查的准确率,可以有效降低出生颜面畸形的发生风险,值得临床推广使用。Objective:To explore the application value of ultrasound in detecting facial and facial deformities and its correlation with chromosomal abnormalities. Methods:A total of 5880 pregnant women who underwent prenatal ultrasound testing in our hospital from January 2014 to January 2018 were selected as subjects. Ultrasound testing was performed on all subjects. The final fetal birth return results and induction results were used as reference standards. Ultrasound detection accuracy,and the same number of high-risk pregnant women and facial deformity pregnant women with facial deformity were selected for amniocentesis,and the karyotype was analyzed to compare the correlation between facial deformity and chromosomal abnormalities. Results:A total of 15880 pregnant women underwent ultrasonography. A total of 54 cases of facial and facial deformities were detected. 58 cases of facial and facial deformities were confirmed by induction of labor or normal delivery. Ultrasonographic examination of fetal facial deformities resulted in 22 cases of cleft lip,15 cases of cleft lip and palate,and low ear position. 10 cases,4 cases of small genital malformation,3 cases of no ocular malformation;follow-up confirmed that the facial deformity of the fetus was 23 cases of cleft lip,16 cases of cleft lip and palate,11 cases of low ear,5 cases of small sac deformity,3 cases of no ocular deformity,two The difference in group comparison was not significant(P>0.05). 2 Ultrasound test results were consistent with follow-up or induction of labor to confirm facial and facial abnormalities(Kappa=0.946). 3 abnormalities of chromosome 21,chromosome 18 and other chromosomes were 33.33%,25.93%,and 20.37%,respectively,which were significantly higher than 9.26%,1.85%,and 3.7% of high-risk fetuses. Ultrasound detection of total fetal chromosomes of facial and facial abnormalities The abnormal rate was 79.63%,which was significantly higher than the abnormal rate of 14.81% of high-risk fetus(χ2=45.511,P<0.05).Conclusion:Ultrasound detection of fetal f

关 键 词：颜面畸形 超声检测 染色体异常 相关性 

分 类 号：R445.12[医药卫生—影像医学与核医学]