Prenatal diagnosis of a fetal scalp glomuvenous malformation- a case report.

Abstract

Objectives: Congenital glomuvenous malformations are uncommon vascular maformations caused by mutations in the glomulin gene that are either sporadic or dominantly inherited.

Case presentation: We describe the case of a fetal scalp mass - a glomuvenous malformation - detected prenatally in the third trimester of pregnancy. This defect was an isolated incidental finding without any other intra- or extracranial abnormalities. The pregnancy was managed in a tertiary fetal medicine unit, detailed investigations were performed and a plan for delivery was made following multidisciplinary input. The neonate was delivered following a planned caesarean section at 37-38 weeks. The mass was resected by the neurosurgical team on the first day of life and the baby was discharged in good health on day 7. The mass was sent for neuropathological examination, which confirmed a diagnosis of glomuvenous malformation.

Conclusions: Our case highlights the importance of third trimester assessment of fetal anatomy and the importance of prenatal diagnosis and multidisciplinary teamwork to improve perinatal outcomes in high-risk pregnancies. It also highlights that glomuvenous malformation should be considered in the differential diagnosis in pregnancies presenting with a subcutaneous scalp mass without an accompanying calvarial defect.