Misdiagnosis of omphalocele associated with Edwards syndrome and congenital heart disease.
We present a case in which an apparent omphalocele, diagnosed at 30 weeks gestation by 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.
Colley
N
N
Knott
P D
PD
Gould
S J
SJ
D000328:Adult; D002887:Chromosomes, Human, Pair 18; D003937:Diagnosis, Differential; D003951:Diagnostic Errors; D005260:Female; D006330:Heart Defects, Congenital / Q000175:diagnosis*; D006554:Hernia, Umbilical / Q000175:diagnosis*; D006801:Humans; D011247:Pregnancy; D011296:Prenatal Diagnosis; D013577:Syndrome; D014314:Trisomy; D014463:Ultrasonography