Prenatal Diagnosis of Rare Neurodevelopmental Disorder with IDH1 Gene Variant

A groundbreaking prenatal diagnosis has been achieved using trio exome sequencing, identifying a rare neurodevelopmental disorder linked to an isocitrate dehydrogenase 1 (IDH1) gene variant. This disorder, known as metaphyseal chondromatosis with D‐2‐hydroxyglutaric aciduria, presents severe skeletal and cerebral anomalies. The case marks the first reported instance of a prenatal IDH1 pathogenic variant. Suspicious findings during a routine ultrasound led to amniocentesis and genetic testing, revealing a de novo heterozygous variant in the IDH1 gene. This diagnosis empowers parents and medical professionals for informed pregnancy management.