胎儿鼻骨缺失或短小与染色体异常的关系  

To investigate the relationship between the absence or short nasal bone and chromosome abnormality

作　　者：杨娟[1] 赵胜[1] 冯倩[1] 高艳多 朱霞[1] Yang juan;Zhao sheng;Feng qian;Gao yanduo;Zhu xia(Department of Ultrasonography,Maternal and Child Health Hospital of Hubei Province,Wuhan 430070,China)

机构地区：[1]湖北省妇幼保健院超声诊断科,湖北武汉430070

出　　处：《中国产前诊断杂志（电子版）》2024年第1期5-9,共5页Chinese Journal of Prenatal Diagnosis(Electronic Version)

基　　金：湖北省科技厅援疆援藏重点专项(2018AKB1496);湖北省卫健委联合项目创新团队项目(WJ2018H0132);湖北省卫健委面上项目(WJ2019M233);湖北省卫健委面上项目(WJ2023M113);武汉市中青年医学骨干人才项目。

摘　　要：目的 探讨鼻骨缺失或短小与染色体异常的关系。方法 回顾性分析2020年1月至2022年12月在湖北省妇幼保健院行产前系统超声检查的220例中孕期产前系统超声筛查诊断为鼻骨发育异常的胎儿,比较鼻骨缺失与短小胎儿染色体异常发生率的差异,比较孤立性鼻骨发育异常与鼻骨发育异常合并其他结构畸形(或超声软指标异常)的胎儿染色体异常发生率的差异。结果 220例鼻骨发育异常胎儿中染色体异常检出率8.64%(19/220)。鼻骨发育异常合并其他超声异常胎儿染色体异常检出率显著高于孤立性鼻骨发育异常(21.57%VS 4.73%),差异具有统计学意义(P<0.05)。在孤立性鼻骨发育异常以及鼻骨发育异常合并其他超声异常中,鼻骨缺失与鼻骨短小胎儿染色体异常检出率均无显著性差异(P>0.05)。结论 胎儿鼻骨缺失或短小时染色体异常发生率增高;合并其他结构畸形或超声软指标异常时染色体异常发生率更高;产前超声检出胎儿鼻骨缺失或短小时,应对其他结构及超声软指标进行详细超声检查,且不论是否合并其他结构畸形或超声软指标异常,均建议行产前遗传学检测排除染色体基因异常。Objective To investigate the relationship between the absence or short nasal bone and chromosome abnormality.Methods Retrospective analysis of 220 cases of pregnancy prenatal system ultrasound screening diagnosed as abnormal nasal bone development,compare the loss of nasal bone and short fetal chromosome abnormalities detection rate,and compare the differences with other structural abnormalities or ultrasond soft index abnormalities.Results The detection rate of chromosome abnormalities in 220 fetuses with abnormal nasal bone develoment was 8.64%(19/220).The detection rate of chromosome abnormalities in fetuses with abnormal nasal bone development was significantly higher than that of isolated fetuses(21.57%VS 4.73%),and the difference was statistically significant(P<0.05).There was no significant difference in the detection rate of lsolated nasal bone development abnomalities,nasal bone development abnormalities and other ultrasoud abnormalities(P>o.o5).Conclusion The incidence of fetal nasal bone absence or short chromosome abnormality is increased,the incidence of chromosomal abnormalities is higher when combined with other structural malformations or ultrasound soft index abnormalities,absence or short nasal bone was detected by prenatal ultrasound,detailed ultrasound examination should be performed for other structural and ultrasound soft indicators.and prenatal genetic testing should be recommended to exclude chromosomal genetic abnormalities,regardless of other structural abnormalities or ultrasound soft indicators.

关 键 词：鼻骨发育异常 鼻骨缺失 鼻骨短小 染色体异常 

分 类 号：R715.5[医药卫生—妇产科学]