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
[摘要]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1 533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。
[关键词]超声检查;颜面畸形;产前筛查;染色体异常;相关性分析
[中图分类号]R714.53 [文献标志码]A [文章编号]1008-6455(2020)02-0079-03
Abstract： 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 1 533 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 significant(P<0.05). The abnormal rate of the fetal chromosome in the abnormal ultrasound group was 20.00%， which was significantly 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.
Keys words： ultrasound; facial malformation; prenatal screening; chromosomal abnormality; correlation analysis
出生缺陷是胎兒出生时就存在结构与功能方面的异常，其中以胎儿颜面部畸形较常见，颜面畸形外露会给患儿及家庭带来严重的精神与经济压力，因此，提高颜面部畸形胎儿的早期诊断率具有重要的临床价值[1]。目前，关于颜面部畸形的发病原因尚不明确，研究报道，可能与高龄产妇、免疫性疾病及染色体异常相关[2]。随着规范化的产前超声化的普及和使用，可以显著提高孕期胎儿颜面部畸形的检出率，进而降低出生缺陷的发生率;同时，超声在染色体异常筛查中的作用越来越重要[3]。本次研究旨在在胎儿颜面部畸形中应用超声的诊断价值，并进一步探讨颜面部畸形与染色体异常相关性，现将结果报道如下。
1 资料和方法
1.1 一般资料：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孕妇1 533例，选取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。高危因素包括：母亲高龄、不良孕史、血清生化筛查高风险、夫妇一方有染色体异常。超声异常组：年龄22～41岁，平均(30.05±2.12)岁;孕周17～26周，平均(20.05±3.05)周。超声正常高危组：年龄21～39岁，平均(29.10±3.12)岁;孕周17～25周，平均(19.95±2.05)周。两组孕妇年龄、孕周等一般资料比较差异不具有统计学意义(P>0.05)。, http://www.100md.com(李雨洋 李红苗)
[关键词]超声检查;颜面畸形;产前筛查;染色体异常;相关性分析
[中图分类号]R714.53 [文献标志码]A [文章编号]1008-6455(2020)02-0079-03
Abstract： 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 1 533 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 significant(P<0.05). The abnormal rate of the fetal chromosome in the abnormal ultrasound group was 20.00%， which was significantly 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.
Keys words： ultrasound; facial malformation; prenatal screening; chromosomal abnormality; correlation analysis
出生缺陷是胎兒出生时就存在结构与功能方面的异常，其中以胎儿颜面部畸形较常见，颜面畸形外露会给患儿及家庭带来严重的精神与经济压力，因此，提高颜面部畸形胎儿的早期诊断率具有重要的临床价值[1]。目前，关于颜面部畸形的发病原因尚不明确，研究报道，可能与高龄产妇、免疫性疾病及染色体异常相关[2]。随着规范化的产前超声化的普及和使用，可以显著提高孕期胎儿颜面部畸形的检出率，进而降低出生缺陷的发生率;同时，超声在染色体异常筛查中的作用越来越重要[3]。本次研究旨在在胎儿颜面部畸形中应用超声的诊断价值，并进一步探讨颜面部畸形与染色体异常相关性，现将结果报道如下。
1 资料和方法
1.1 一般资料：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孕妇1 533例，选取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。高危因素包括：母亲高龄、不良孕史、血清生化筛查高风险、夫妇一方有染色体异常。超声异常组：年龄22～41岁，平均(30.05±2.12)岁;孕周17～26周，平均(20.05±3.05)周。超声正常高危组：年龄21～39岁，平均(29.10±3.12)岁;孕周17～25周，平均(19.95±2.05)周。两组孕妇年龄、孕周等一般资料比较差异不具有统计学意义(P>0.05)。, http://www.100md.com(李雨洋 李红苗)