产前超声检查诊断胎儿小下颌畸形的临床意义  

Clinical significance of prenatal ultrasonography in the diagnosis of fetal micrognathia

作　　者：张文 陈娇[1] 朱琦[1] 郭楠[1] 刘丹[1] 伍婷 代小惠 罗红[1] ZHANG Wen;CHEN Jiao;ZHU Qi;GUO Nan;LIU Dan;WU Ting;DAI Xiao-hui;LUO Hong(Department of Ultrasound,West China Second Hospital,Sichuan University/Key Laboratory of Birth Defects and Related Women and Children's Diseases,Ministry of Education,Chengdu 610041,Sichuan,CHINA)

机构地区：[1]四川大学华西第二医院超声医学科/出生缺陷与相关妇儿疾病教育部重点实验室,四川成都610041

出　　处：《海南医学》2020年第19期2537-2539,共3页Hainan Medical Journal

基　　金：四川大学华西第二医院新芽科研项目(编号:KX128);四川省卫生和计划生育委员会普及应用项目(编号:17PJ415)。

摘　　要：目的探讨产前超声检查诊断胎儿小下颌畸形的临床意义。方法回顾性选择2008年1月至2018年1月在四川大学华西第二医院超声科进行产前超声检查,并筛查出可疑胎儿小下颌畸形的孕妇共44例,总结胎儿合并的其他结构畸形,同时追踪胎儿的染色体分型及妊娠结局。结果44例胎儿可疑小下颌畸形的孕妇中,年龄19~42岁,平均(28.9±6.1)岁,孕周12~37周,平均(26.6±4.6)周。其中羊水过多25例,仅7例为单纯性小下颌畸形,37例均合并其他系统的异常,包括皮肤骨骼肌系统畸形、颜面部畸形、颅脑结构异常、消化道畸形、泌尿系统畸形及心内结构异常,其他胎儿部分出现单脐动脉、脐带扭转,脐血流频谱异常等。随访其妊娠结局,失访7例,余活产组仅5例,均为单纯性小下颌畸形或仅合并羊水过多,不良妊娠结局组32例。共29例行染色体检查,7例为18-三体,5例为13-三体,1例为21-三体,3例为其他染色体异常,13例未见明显异常。结论产前超声检查作为胎儿畸形筛查的重要手段,能够有效筛查出胎儿小下颌畸形。在小下颌畸形的胎儿中,往往合并其他系统的畸形,需建议孕妇行染色体检查,减少缺陷儿的出生,提高人口素质,同时正确认识小下颌畸形,可减少过度引产率。Objective To investigate the clinical significance of prenatal ultrasonography in the diagnosis of fetal micrognathia.Methods Forty-four patients who underwent prenatal ultrasonography in Department of Ultrasound,West China Second Hospital,Sichuan University and were highly suspected of micrognsthia from January 2008 to January 2018 were enrolled.Then other malformations of the fetus were summarized and the chromosome type and the fetal pregnancy outcome were tracked.Results Among the 44 pregnant women,the average age was(28.9±6.1)years(ranging from 19 to 42 years),the average gestational age was(26.6±4.6)weeks(ranging from 12 to 37 weeks);25 cases were combined with excessive amniotic fluid,and only 7 cases were isolated micrognathia,37 cases were combined with other systemic abnormalities,including skin skeletal muscle malformations,facial deformities,intracranial malformation,digestive tract malformations,urinary malformations and intra-cardiac malformation.Single umbilical arteries,umbilical cord torsion and abnormal umbilical cord blood spectrum were also found in these cases.Following up of pregnancy outcomes showed that 7 cases were lost,32 cases had adverse pregnancy outcome,and only 5 cases had live birth group,all of which were isolated micrognathia or combined with polyhydramnios.A total of 29 cases were examined for chromosomes,which showed 7 cases of 18-trisomy,5 cases of 13-trisomy,1 case of 21-trisomy,3 cases of other structural chromosomal abnormalities,and 13 cases with no obvious chromosomal abnormalities.Conclusion Prenatal ultrasonography is an important method to screen fetal malformations,which can effectively screen the fetal micrognathia.Micrognathia is often combined with other system malformations,and chromosome examination is recommended to reduce birth defects and improve the quality of the population.And facing micrognathia correctly can decrease the rate of unnecessary laboring.

关 键 词：小下颌 胎儿畸形 产前诊断 超声检查 妊娠结局 

分 类 号：R714.431[医药卫生—妇产科学]