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Misdiagnosis of omphalocele associated with Edwards syndrome and congenital heart disease
Author(s) -
Colley N.,
Knott P. D.,
Gould S. J.
Publication year - 1987
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.1970070513
Subject(s) - omphalocele , trisomy , heart disease , medicine , prenatal diagnosis , fetus , aneuploidy , congenital disease , gestation , hypoplastic left heart syndrome , surgery , obstetrics , pregnancy , biology , genetics , chromosome , gene
We present a case in which an apparent omphalocele, diagnosed at 30 weeks gestation ultrasound, led to identification of fetal trisomy 18 and congenital heart disease. At delivery, the fetus had the features of trisomy 18 and congenital heart disease but the omphalocele was absent. We suggest that the appearances seen are easily confused with a small omphalocele and could potentially result in unnecessary further investigations being performed.