Diagnóstico prenatal del complejo onfalocele, extrofia cloacal, ano imperforado y defecto de la columna vertebral (complejo OEIS) / Prenatal diagnosis of omphalocele, cloacal exstrophy, imperforate anus and spinal anomalies complex (OEIS complex)

RESUMEN El complejo onfalocele, extrofia de la cloaca, ano imperforado y anomalías de la columna vertebral (Complejo OEIS) es una combinación de malformaciones congénitas severas y extremadamente raras. Su incidencia es estimada en 1 por cada 200.000 - 400.000 nacidos vivos. La aparición de los casos es esporádica y no tiene una etiología conocida. Algunos han sido asociados a exposiciones ambientales, causas genéticas y procedimientos de fertilización in vitro. El mecanismo de desarrollo parece asociado a alteraciones de la blastogénesis temprana o defecto de la migración mesodérmica durante el período embrionario. El diagnóstico prenatal puede realizarse a las 16 semanas de gestación, aunque en ocasiones es posible un diagnóstico más temprano. Su diagnóstico definitivo se realiza con los hallazgos de la necropsia. La mayoría de los recién nacidos supervivientes necesitan múltiples cirugías con complicaciones potenciales y no siempre se alcanza los resultados deseados. Se presenta un caso de diagnóstico prenatal de onfalocele, extrofia de la cloaca, ano imperforado y anomalías de la columna vertebral (complejo OEIS).

ABSTRACT Omphalocele, cloacal exstrophy, imperforate anus and spinal anomalies complex (OEIS complex) is a combination of severe and extremely rare congenital malformations. Its incidence is estimated at 1 per 200,000 - 400,000 live births. The occurrence of cases is sporadic and has no known etiology. Some have been associated with environmental exposures, genetic causes, and in vitro fertilization procedures. The mechanism of development appears to be associated with alterations in early blastogenesis or defect in mesodermal migration during the embryonic period. Prenatal diagnosis can be made at 16 weeks of gestation, although earlier diagnosis is sometimes possible. Definitive diagnosis is made necropsy findings. Most surviving newborns require multiple surgeries with potential complications and the desired results are not always achieved. A case of prenatal diagnosis of omphalocele, cloacal exstrophy, imperforate anus and spinal anomalies (OEIS complex) is presented.

Antenatal diagnosis of omphalocele and spinal dysraphism: a possible OEIS complex

OEIS complex, which comprises of omphalocele, exstrophy bladder, imperforate anus and spinal dysraphism, is a rare disorder. The prognosis depends upon the severity of the structural defects. Survival depends on the extension of the cloacal exstrophy and the neural tube defect. The antenatal diagnosis in early pregnancy is very tough, and a high level of suspicion should be kept for the possibility of its existence, even only if omphalocele and spinal dysraphism are seen on a prenatal sonography. Authors present the case of a 33-year-old, G1P0 female, who on her prenatal routine sonography scan, was found to have a fetus with omphalocele and spinal dysraphism. Despite the repeated attempts to follow her up, she refused and hence the possibility of the presence of other associated malformations could not be ascertained. Considering the difficulty of antenatal diagnosis of OEIS complex and its associated mortality, the objective of this case report is to discuss the vital sonographic findings of OEIS, along with its etiology and prognosis, which can aid in its early detection and subsequently help parents to make a decision regarding the continuation of pregnancy.

Demographic Factors, Autopsy Findings and Syndrome Diagnosis in Congenital Anomalies with Imperforate Anus

Introduction: Imperforate anus is a relatively rare birth defectin which rectum is malformed. Cases of isolate imperforateanus exist, but most commonly, this condition is found as apart of syndromes and congenital anomalies. Therefore, weconducted a prospective fetal autopsy study to know theassociation of imperforate anus in congenital anomalies,analyse the demographic factors and correctly diagnose thesyndromes.Materials and Methods: Perinatal deaths with congenitalanomalies over a period of 1 year at our institute wereincluded in the study. Standard protocol for autopsy wasfollowed in each case. External examination andanthropometric measurements were carried out. Autopsy wasconducted according to Virchow’s technique by giving amodified “Y” shaped incision starting from below the ears tosymphysis pubis encircling umbilicus on the left side. Boththorax and abdomen were opened. Internal examinationincluding viscera was done and samples were collected forhistopathological examination. Results were noted andanalysed.Results: Out of the 57cases with congenital anomalies, 9cases were found to be associated with imperforate anuswhich included VACTERL anomaly with Prune Belly syndrome,Edward’s syndrome, Fraser syndrome, OEIS complex (2cases), Ellis-Van-Creveld syndrome, TRAP baby andGastroschisis (2 cases).Conclusion: Autopsy has an important role in the diagnosis ofsyndromes and associations with imperforate anus. Our studyalso pointed at the contribution of demographic and maternalrisk factors towards these syndromes.

Omphalocele, exstrophy of cloaca, imperforate anus and spinal defect (OEIS Complex) with overlapping features of body stalk anomaly (limb body wall complex).

OEIS is an extremely rare constellation of malformations, which includes omphalocele, exstrophy of cloaca, imperforate anus, and spinal defect. We report here autopsy findings in a case of OEIS complex, which apart from the major anomalies of the complex had bilateral club foot that is, congenital talipes equinovarus, right hydroureter, and body stalk anomaly. The umbilical cord was absent, and the umbilical vessels were embedded in an amniotic sheet, which connected the skin margin of the anterior body wall defect to the placenta, this feature being the hallmark of limb body wall complex (LBWC). This case further supports the view that OEIS and LBWC represent a continuous spectrum of abnormalities rather than separate conditions and may share a common etiology and pathogenetic mechanism as proposed by some authors.