Prenatal sonographic diagnosis of Beckwith-Wiedemann syndrome in a fetus with omphalocoele

Description

A 28 years old primigravida was referred to Department of Obstetrics and Gynaecology, King George's Medical University, as 35 weeks pregnancy with polyhydramnious with suspected fetal omphalocoele. The defect was diagnosed at 24 weeks at some external centre and the patient was counselled regarding continuation of pregnancy with postnatal surgical repair of malformation after delivery. The diagnosis of Beckwith-Wiedemann syndrome (BWS) was missed at that time.

Phenotypic presentation of BWS has several variations and low occurrence of multiple abnormalities simultaneously limits the sonograhic detection rate. The genotypic detection is feasible only if the molecular defect is known.

We are submitting images of this fetus which shows a fetus with large abdominal wall defect covered by a wall containing only bowel loops and not the liver (figure 1). Along with it the fetus also shows bilateral enlarged kidneys with a suspicious cystic lesion on upper pole of right kidney...

http://ift.tt/2fELhe9