Terminal deletion of 7q presents with variable anatomical and developmental findings. This case is the first reported in utero diagnosis based on cytogenetic findings and in utero demonstration of resolving congestive heart failure due to a truncus arteriosus.
The management of bladder outlet obstruction in the fetus remains a debated issue. Recent data suggest the use of cystocentesis for the possible relief of the bladder neck obstruction or for the opening of posterior urethral valves. This case report adds further support for the use of cystocentesis and observation prior to the placement of an indwelling bladder shunt. The case further demonstrates that relief of the megacystis may not prevent prune belly syndrome, bladder dysfunction or renal damage. Finally, the case demonstrates that severe oligohydramnios in the second trimester need not invariably result in pulmonary hypoplasia.
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