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Prenat Diagn. 2008 Feb;28(2):141-7. doi: 10.1002/pd.1940.

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

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

Abstract

OBJECTIVE:

To describe the outcome of children prenatally diagnosed with omphalocele, exstrophy of the cloaca, imperforate anus and spinal defects (OEIS).

METHOD:

A retrospective study identified six fetuses diagnosed with OEIS from 2001 to 2007 and data were collected from pre- and postnatal charts.

RESULTS:

Prenatal findings included an infraumbilical wall defect, omphalocele, no visible bladder and spinal defects. Abnormalities of the upper urinary tract were seen in all cases and ambiguous genitalia in four. Four women continued the pregnancy after prenatal counseling and these fetuses were liveborn at a mean gestational age of 36 weeks. Postnatal evaluation confirmed the prenatal findings in the neonates. The children have required multiple surgeries. Common complications are recurrent urinary tract infections and failure to thrive. Neurodevelopment and motor function are normal in all children, except for one child with lower extremity paralysis and global developmental delay.

CONCLUSION:

Prenatal diagnosis of OEIS is reliable and no significant differences in pre- and postnatal findings in the children were found. Correct diagnosis of abnormalities of external and internal genitalia remains a challenge and abnormalities of the upper urinary tract are common. Postnatal survival is good but associated with considerable morbidity and psychosocial consequences.

PMID:
18236426
[PubMed - indexed for MEDLINE]
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