Spectrum of brain malformations in fetuses with 'mild' tubulinopathies.
R HagegeKarina Krajden HaratzGustavo MalingerL Ben-SiraZ LeibovitzD HeronL BurglenBirnbaum RoeeS ValenceB KerenL BlumkinJean-Marie JouannicT Lerman-SagieC GarelPublished in: Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology (2022)
Prenatal diagnosis of mild forms of tubulinopathies is possible but challenging. We have defined, on this large series, major and minor criteria that help identify this entity in utero. Most findings can be suggested on ultrasound. This evaluation is also crucial for better prenatal counselling. Once the prenatal diagnosis of mild tubulinopathy is raised, the family members should be referred for exomic sequencing and MRI. This article is protected by copyright. All rights reserved.