Spectrum of brain malformations in fetuses with ‘mild’ tubulinopathies

This study aimed to report a large cohort of fetuses with mild tubulinopathies and define the prenatal ultrasound and magnetic resonance imaging (MRI) criteria that can facilitate prenatal diagnosis. This was a retrospective multicenter study, conducted from January 2007 to February 2022, of fetuses diagnosed with mild tubulinopathies (without lissencephaly or microlissencephaly). The study defined major and minor criteria on this large series 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.