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OEIS sequence--a rare congenital anomaly with prenatal evaluation and postnatal outcome in six cases

Eleonor Tiblad1, R Douglas Wilson, Michael Carr

  • 1Center for Fetal Diagnosis and Treatment, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.

Prenatal Diagnosis
|February 1, 2008
PubMed

Insights

Prenatal diagnosis of OEIS is reliable for predicting outcomes in affected children. While survival is good, significant morbidity and psychosocial challenges persist, requiring extensive postnatal care.

Area of Science:

  • Pediatric Surgery
  • Prenatal Diagnosis
  • Congenital Anomalies

Background:

  • Omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects (OEIS) is a rare complex congenital anomaly.
  • Accurate prenatal diagnosis is crucial for planning management and counseling families.

Purpose of the Study:

  • To evaluate the accuracy of prenatal diagnosis for OEIS.
  • To describe the clinical outcomes and complications in children diagnosed prenatally with OEIS.

Main Methods:

  • Retrospective study of six fetuses diagnosed with OEIS between 2001 and 2007.
  • Data collected from prenatal and postnatal medical records.

Main Results:

  • Prenatal findings accurately predicted postnatal conditions, including infraumbilical wall defects, omphalocele, spinal defects, and upper urinary tract abnormalities.
  • Four of six fetuses were liveborn; common complications included recurrent UTIs and failure to thrive.
  • Neurodevelopment and motor function were largely normal, with one exception.

Conclusions:

  • Prenatal diagnosis of OEIS is reliable.
  • Upper urinary tract abnormalities are common, and diagnosis of genitourinary anomalies can be challenging.
  • Postnatal survival is favorable but associated with significant morbidity and psychosocial impact.
Abstract

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