系统性胎儿筛查对胎儿外耳畸形的诊断价值

Diagnostic value of systemic fetus screening on the fetal external ear deformity

目的:探讨系统性筛查胎儿外耳畸形的声像图特征及临床应用价值。方法:随访本院进行系统性胎儿筛查的孕妇,其中胎儿外耳畸形16例,对其声像图资料进行回顾性分析,分析其漏诊误诊原因。结果:系统性胎儿筛查出11例胎儿外耳畸形,漏诊5例。其中单耳小耳7例,耳低位2例,双侧无耳畸形、双耳小耳各1例,其中5例伴羊水过多,合并无脑儿、脐膨出、房室共道畸形、肢体畸形各1例。9例行染色体核型分析,诊断为唐氏综合征4例,爱德华氏综合征3例。结论:胎儿外耳畸形有其特殊的声像图表现,系统性筛查胎儿外耳可为产前诊断胎儿畸形提供丰富的诊断信息。

Objective:To explore the ultrasonic characteristics and clinical application value of systemic screening on the fetal external ear deformity.Methods:The pregnant woman with systemic fetus screening in our hospital were followed up,including 16 cases were fetal external ear deformity,the ultrasonographic data were retrospectively analyzed,the misdiagnosis and misdiagnosis reasons were analyzed.Results:11 cases were fetal external ear deformity by the systemic fetus screening,5 cases were misdiagnosis.Among 7 cases were single ear microtia, 2 cases were ear low,1 case was double side anotia,1 case was double ears microtia,including 5 cases with polyhydramnios,combined with anencephaly,omphalocele,common atrioventricular canal malformation,limb deformity in 1 case.9 cases were given karyotype analysis,4 cases were diagnosed as 21-3 body,3 cases were18-3 body.Conclusion:Fetal external ear deformity has its special ultrasonographic manifestations,systemic screening for fetal external ear can provide abundant diagnostic information for prenatal diagnosis of fetal malformation.It is worth noting in which there are 3 patients without obvious other small ear deformity,2 cases are 21-3 body,1 case is 18-3 body,among 1 case of ear low is 18-3 body.