
The report highlights four prenatal cases of ACTG2 visceral myopathy linked to fetal megacystis (FM). Identified via second-trimester ultrasound, all cases underwent trio exome sequencing, revealing pathogenic ACTG2 variants—three de novo and one maternally inherited. The maternal carrier exhibited lifelong symptoms of smooth muscle dysfunction. ACTG2 visceral myopathy emerges as a key concern in fetuses with isolated second-trimester megacystis. These findings underscore the importance of genetic diagnosis in parental counseling, pregnancy management, and assessing recurrence risks for future pregnancies.
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