Case report: meckel–grüber syndrome (MGS): the role of autopsy

Abstract

<h3>Background</h3> MGS is a lethal autosomal recessive disorder characterised by multiple congenital malformations, affecting 1 in 13,250–140,000 live births. Early recognition is important given the lethal outcome and risk of recurrence. A healthy sibling has a 2/3 chance of being a carrier. Although suggested by ultrasound, the diagnosis is confirmed only after autopsy and karyotyping. <h3>Case study</h3> The case is of a 34-year-old woman, found to have multiple fetal abnormalities on a 12/40 ultrasound scan, including: left occipital encephalocoele, small limbs with clenched hands and feet, a possible heart abnormality and cystic kidneys. The probable diagnosis of MGS was raised, and after consultation a vacuum assisted termination was performed at 13/40. DNA analysis excluded trisomy 13. Autopsy revealed polydactyly, biliary dilatation and renal cystic dysplasia, which together with the ultrasound and DNA analysis confirmed a diagnosis of MGS. <h3>Conclusion</h3> Fetal autopsy provides diagnostic information valuable in the validation of obstetric management and assessment of recurrence risk.