胎儿肢体畸形产前超声诊断价值与漏诊病例分析

目的 探讨产前超声检查在胎儿肢体畸形中的诊断价值及产前超声漏诊原因.方法 回顾性分析2013年1月至2016年6月在北京市海淀区妇幼保健院进行产检并分娩或治疗性引产的41289例胎儿的病历资料,临床孕周为12~42周,选取其中产后诊断为肢体畸形的出生缺陷患儿186例为研究对象.结果 41289例胎儿,经超声、核磁共振、染色体检查以及产后X线检查、尸检等证实的出生缺陷患儿1342例,出生缺陷发生总率3.25%;肢体畸形186例,发生总率0.45%,占出生缺陷患儿13.86%,其中单纯肢体畸形122例,占65.59%,复合肢体畸形25例,占13.44%,合并其他系统畸形39例,占20.97%.186例肢体畸形中,产前超声诊断59例,46例于28周前行治疗性引产.140例进入围产期,围产儿肢体畸形发生率0.34%.超声漏诊127例,各类漏诊肢体畸形中,多指(趾)和并指(趾)占85.04%.186例肢体畸形中,18例胎儿行染色体检查,其中10例未见异常核型,6例为18-三体,1例为13-三体,1例为21-三体.结论 产前系统超声检查可明确诊断胎儿肢体畸形,降低新生儿出生缺陷发生率;多指(趾)、并指(趾)等微小肢体畸形,产前超声难以诊断.

Value of prenatal ultrasonography for diagnosis of fetal limb deformity and analysis of missed cases

Objective To study the value of prenatal ultrasonography in diagnosing fetal limb deformity and to analyze the reasons of missed diagnosis .Methods Retrospective analysis was conducted on 186 fetuses with limb deformity in 41289 fetuses or therapeutic induced labor during clinical gestational age of 12 to 42 weeks in Haidian Maternal and Child Health Care Hospital in Beijing from January 2013 to June 2016.Results Among 41289 cases of fetuses , 1342 cases were diagnosed with birth defects by ultrasonic examination , nuclear magnetic resonance, chromosome examination, postpartum X-ray examination, or autopsy.The totoal incidence of birth defects was 3.25%.There were 186 cases of limb deformity , accounting for 13.86%of all birth defects, and the incidence rate of that was 0.45%, including 122 cases of simple limb deformity accounting for 65.59%, 25 cases of recombination limb deformity accounting for 13.44%, and 39 cases of combined malformations of other systems accounting for 20.97%.Among 186 cases of limb deformity, 59 cases were diagnosed by prenatal ultrasonography and 46 cases were induced befor 28 weeks.There were 140 cases in prenatal period , and the incidence of limb deformity in perinatal infants was 0.34%.There were 127 cases of limb malformation escaped from ultrasonic diagnosis .Among them, cases of polydactyly and syndactyly occupied 85.04%.Among 186 cases of limb deformity , 18 fetuses were detected by chromosome , and the results revealed 10 cases of abnoraml karyotype , 6 cases of trisomy-18, 1 case of trisomy-13 and 1 case of trisomy-21.Conclusion Fetal limb deformity can be diagnosed by systematic ultrasonic examination , and incidence rate of newborn birth defects can be reduced . However , little limb deformity such as polydactyly and syndactyly deformity is difficult to be diagnosed with prenatal ultrasonic examination.