Prenatal diagnosis of diencephalic‐mesencephalic junction dysplasia: Fetal magnetic resonance imaging phenotypes, genetic diagnoses, and outcomes

Abstract

DMJD may be identified by prenatal MRI as early as 18 weeks gestation. We propose three distinct phenotypic forms of DMJD, Types A-C. Next-generation sequencing provides an underlying molecular diagnosis in some patients, but further studies on associated genetic diagnoses and clinical outcomes are indicated.