Prenatal features in Beckwith-Wiedemann syndrome and indications for prenatal testing

Beckwith–Wiedemann syndrome (BWSp) is a medical condition characterized by overgrowth, birth defects and increased risk of cancer during childhood. It affects 1 in 10,000 newborns worldwide. During pregnancy the presentation may be non-specific and the diagnosis is usually suspected after birth, complicating the management of pregnancy, delivery and the neonatal period. We studied the prenatal presentation of BWSp in 89 patients, providing a detailed description and estimation of the frequency of the fetal findings and we propose a scoring system for the indication to the molecular testing during pregnancy, with the aim of improving the prenatal diagnosis, the outcome of delivery and neonatal procedures for this rare disease. (By Dr. Diana Carli, https://jmg.bmj.com/content/early/2020/10/27/jmedgenet-2020-107311 )

From left to right: Dr. Alessandro Mussa, Dr. Simona Cardaropoli, Dr. Diana Carli and Prof. Giovanni Battista Ferrero

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