Ardinger H H, Williamson R A, Grant S
Am J Med Genet. 1987 May;27(1):135-42. doi: 10.1002/ajmg.1320270114.
Omphalocele is frequently associated with other congenital malformations or a chromosome abnormality. Previously published series of omphalocele have emphasized the association of congenital heart defects or chromosomal abnormalities. We present five cases of omphalocele with concurrent neural tube defect from among the 15 cases of omphalocele evaluated between 1981 and 1985. Fourteen of 15 were detected prenatally. A sixth case is presented in which both a neural tube defect and an omphalocele were suspected on a prenatal ultrasound, but only the latter was found on autopsy. We recommend that a systematic evaluation be performed on every fetus with an omphalocele to include amniotic fluid alpha fetoprotein, acetylcholinesterase levels, chromosome study, and careful ultrasonography looking for evidence of other abnormalities, especially neural tube defects, before counseling the parents.
脐膨出常与其他先天性畸形或染色体异常相关。先前发表的关于脐膨出的系列研究强调了先天性心脏缺陷或染色体异常之间的关联。我们报告了1981年至1985年间评估的15例脐膨出病例中并发神经管缺陷的5例。15例中有14例是产前检测到的。现报告第六例，产前超声检查怀疑存在神经管缺陷和脐膨出，但尸检仅发现了后者。我们建议，在向父母提供咨询之前，对每例患有脐膨出的胎儿进行系统评估，包括羊水甲胎蛋白、乙酰胆碱酯酶水平、染色体研究，并进行仔细的超声检查以寻找其他异常的证据，尤其是神经管缺陷。
