Year: 2024
Type: conference-abstract
Abstract: We present a case of non-immune fetal hydrops with abdominal ascites and hydrocele. After amniocentesis the karyotype and microarray came back as normal, however the whole exome sequence (R21) detected a gene mutation in keeping with Kabuki syndrome. Postnatally the hydrops resolved, however the baby had other features in keeping with Kabuki syndrome that could not have been detected by prenatal ultrasound (gastroesophageal reflux, hearing loss, ASD, pseudoarthrosis of right clavicle). We suggest that Kabubki syndrome should be considered as possible etiology in non-immune fetal hydrops. In this case the parents should be counselled regarding the possibility of the hydrops to resolve after delivery without further intervention, however there are many other abnormalities related to this genetic disorder.
DOI: 10.1002/uog.28248
Authors: L. Giurcaneanu, B.B. Heim
Institutions: University Hospital Coventry, University of Dundee
Language: English
Field: Medicine
Domain: Health Sciences
Open Access status: bronze
OpenAlex ID: W4402358865