OEIS sequence--a rare congenital anomaly with prenatal evaluation and postnatal outcome in six cases.
OBJECTIVE
To describe the outcome of children prenatally diagnosed with omphalocele, exstrophy of the cloaca, imperforate anus and spinal defects (OEIS).


METHODS
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.


CONCLUSIONS
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.
Tiblad
Eleonor
E
Center for Fetal Diagnosis and Treatment, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
Wilson
R Douglas
RD
Carr
Michael
M
Flake
Alan W
AW
Hedrick
Holly
H
Johnson
Mark P
MP
Bebbington
Michael W
MW
Mann
Stephanie
S
Adzick
N Scott
NS
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging*; D001006:Anus, Imperforate; D002648:Child; D005260:Female; D005500:Follow-Up Studies; D006554:Hernia, Umbilical / Q000000981:diagnostic imaging*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D011247:Pregnancy; D047928:Premature Birth; D012189:Retrospective Studies; D013131:Spine / Q000002:abnormalities; D016019:Survival Analysis; D016216:Ultrasonography, Prenatal; D014564:Urogenital Abnormalities / Q000000981:diagnostic imaging*