Prenatal Ultrasound and MRI in the Diagnosis of a Rare Fetal Dysplastic Megalencephaly Caused by AKT1 Gene Variant.

Authors

Chunying Li, Xiaoyu Song, Jifang Qian, Yingying Yang, Yilin Wang, Xiaojuan Lin

Published in

Journal of clinical ultrasound : JCU. Jul 01, 2026. Epub Jul 01, 2026.

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.

PMID:
42385199
Bibliographic data and abstract were imported from PubMed on 02 Jul 2026.

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