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.

Antenatal diagnosis of alobar holoprosencephaly

Holoprosencephaly (HPE), a congenital induction disorder, occurs due to failed segmentation of neural tube and subsequent incomplete separation of the prosencephalon. Because of the defect in the ventral induction, HPE is also associated with multiple facial abnormalities. Mortality correlates with the severity of brain malformation and facial phenotype. Frequent causes of death include respiratory infections, dehydration due to uncontrolled diabetes insipidus, intractable seizures, and brainstem malfunction. This is a case of Alobar holoprosencephaly in the fetus of a 31-year-old G2P1 female, detected on level II obstetric ultrasound at 17 weeks of gestation. The objective of this case report is to discuss the etiology, pathogenesis, prenatal sonographic findings, management and prognosis of HPE which can aid in its early antenatal diagnosis and can help formulate an adequate plan for the parents and fetus.