产前诊断脐膨出胎儿80例结局分析

Outcome of prenatally diagnosed Omphalocele

目的了解80例产前诊断为脐膨出胎儿的结局。方法回顾性分析2004年12月到2010年1月广东省妇幼保健院产前超声检查诊断为“先天性脐膨出”的患儿临床资料，通过医院信息系统和电话随访相结合，记录孕妇和新生儿的诊疗资料。结果80例中，36例脐膨出胎儿伴发结构畸形，其中4例失访，3例行脐带血染色体检查，1例为47XXY，31例终止妊娠，1例死胎；44例单发脐膨出，5例失访，11例行脐带血染色体检查，均正常，28例终止妊娠，11例活产，其中1例出生时未见脐膨出，1例巨大脐膨出患儿一期手术后死亡，1例巨型脐膨出患儿予非手术治疗，8例小型脐膨出患儿均经一期手术治疗，无一例死亡，术后发育良好。结论运用产前超声和染色体检查等仔细甄别胎儿脐膨出，通过宫内转运或新生儿转运开展早期诊治，获产前诊断的单发小型脐膨出可以继续妊娠。

Objective To understand the outcome of prenatally diagnosed omphalocele. Mathods Omphalocele eases with prenatal ultrasound diagnosis, from December 2004 to January 2010 ,were reviewed. Combined hospital information systems with telephone follow-up, the clinic data of pregnant women and neonate were reeorded. Results Of 80 cases, 36 eases associated with the other malformations ,4 cases was lost. 3 cases had chromosome examination, and one was 47XXY. one was still birth, 31 eases were termination of pregnancy. Of 44 eases with isolated omphalocele, 5 eases was lost. all of 11 eases of chromosome examination were normal. 28 eases were termination of pregnancy, 11 eases were live births, one was born without omphalocele. One giant omphalocele died after operation, and the other giant omphalocele aeeepted non-surgieal treatment. Eight minor omphalocele were treated by one-stage surgery without death. They were well-being without abdominal pain and bloating. Conclusions Through carefully screening by such as the use of prenatal ultrasound and chromosomal examination, timely transfering by intrauterine or postnatal transport , early diagnosis and treatment, the pregnancy with isolated small omphalocele can continue.