DOI: 10.1002/jcu.70324 ISSN: 0091-2751
Prenatal Ultrasound and
MRI
in the Diagnosis of a Rare Fetal Dysplastic Megalencephaly Caused by
AKT1
Gene Variant
Chunying Li, Xiaoyu Song, Jifang Qian, Yingying Yang, Yilin Wang, Xiaojuan Lin ABSTRACT
We report a prenatal case of rare dysplastic megalencephaly detected via ultrasound and magnetic resonance imaging (MRI), showing progressive macrocephaly and abnormal cortical development. Whole‐exome sequencing (WES) identified a somatic AKT1 variant (c.49G>A), confirming the diagnosis. This case highlights the integration of imaging and genetic analysis in diagnosing fetal megalencephaly, underscoring the role of mTOR pathway disorders. Pregnancy was terminated after counseling.