超声在诊断胎儿颜面畸形中的应用价值及颜面部畸形与染色体异常的关系研究

目的:探究超声在诊断胎儿颜面畸形中的临床价值,进一步分析颜面部畸形与染色体异常的关系。方法:回顾性分析2018年12月-2019年7月在笔者医院超声科行产前筛查的1533例孕妇的资料,以超声筛查胎儿颜面部异常者(超声异常组,n=30)和超声筛查胎儿颜面部正常但具有高危因素者(超声正常高危组,n=66)作为研究对象。记录超声及染色体检查结果,分析颜面部畸形与染色体异常的关系。结果:30例超声筛查颜面部异常胎儿中,8例单纯颜面部异常,22例颜面部异常合并其他异常。超声异常合并其他异常组NT厚度显著高于超声单纯异常组和超声正常高危组,差异有统计学意义(P<0.05)。超声异常组胎儿染色体异变率为20.00%,显著高于超声正常高危组的4.55%,差异有统计学意义(P<0.05)。结论:产前筛查中应用超声诊断可以明显提高染色体异常胎儿的检出率,值得临床推广应用。

The Value of Ultrasound in the Diagnosis of Fetal Facial Malformations and the Correlation Between Facial Malformations and Chromosome Abnormalities

Objective To explore the the value of ultrasound in the diagnosis of fetal facial malformations and the correlation between facial malformations and chromosome abnormalities.Methods The clinical data of 1533 pregnant women who underwent antenatal screening in our hospital between December 2018 and July 2019 were analyzed retrospectively.The patients with abnormal fetal face(the abnormal ultrasound group,n=30)and those with normal fetal face but with high risk factors(the ultrasound normal high risk group,n=66)were selected as subjects.The results of ultrasound and chromosome examination were recorded.The relationship between facial deformity and chromosome abnormality was analysed.Results Among 30 fetuses screened for facial abnormalities by ultrasound,8 cases were simple facial abnormalities,22 cases were facial abnormalities with other abnormalities.The NT thickness of the ultrasound abnormality combined with other abnormalities group was significantly higher than that of the abnormal ultrasound group and the ultrasound normal high risk group,the differences were statistically signifi cant(P<0.05).The abnormal rate of the fetal chromosome in the abnormal ultrasound group was 20.00%,which was signifi cantly higher than that of the ultrasound normal high risk group(4.55%,P<0.05).Conclusion The application of ultrasound in fetal facial malformation can significantly improve the detection rate of chromosomal abnormalities,which is worthy of clinical application.