Omphalocele exstrophy imperforate anus spinal defects complex prenatal ultrasound and autopsy findings

Abstract

Objective To discuss the prenatal ultrasound findings of omphalocele, exstrophy, imperforate anus, spinal defects (OEIS) complex. Methods The ultrasound findings of nineteen cases with OEIS complex including two cases in a twin pregnancy, which diagnosed by autopsy from January2009to August2015, was analysed restropectively and compared with the anatomic finding by autopsy. Results There were thirteen singleton pregnance and five multiple pregnance including one case fertilized in vitro and transferred with embryo in those nineteen cases with OEIS complexded. Multiple malformations were shown in those nineteen cases by prenatal ultrasound including: (1) Non-visualized bladder in eighteen cases (one case being misdiagnosed as small bladder), one case with complete bladder without bladder neck. (2) Visceral sequestration in seventeen cases. (3) Spinal defects in eighteen cases. (4) External genitalia shown ambiguously or malformation in eighteen cases. (5) Accompanied malformation:7had urinary malformation,9had limb malformation,1had hydrocephalus and ascites and pulmonary stenosis respectively. Fetal accessory structure anomalies:10had Single umbilical artery,3had oligohydramnions. Conclusions OEIS complex includes genitourinary, spine, gastrointestinal tract, skeleton and other organs deformity. The main prenatal ultrasound findings of OEIS include non-visualized bladder, anterior wall defect, spinal defect, and ambiguous genitalia. The OEIS complex could be diagnosed with prenatal systematical ultrasound scan and comprehensive autopsy. Key words: Ultrasonography, prenatal; Fetus; Congenital abnormalities; Pathology