关键词: 脑室旁小结异位, 室管膜, 超声检查,产前, 磁共振成像, 产前诊断, 病例报告

Abstract:

This paper reported a case of fetal heterotopic gray matter with FLNA gene mutation. Fetal heterotopic gray matter was diagnosed by the prenatal B ultrasound combined with fetal brain MRI. The ultrasound examination showed that the external wall of lateral ventricle was uneven, the posterior fossa cistern was wide, the diaphragmatic space was slightly narrow, and the cerebellomedullary cistern was slightly widened. The gray matter heterotopias and large occipital cistern were affirmed by MRI. The extoliated cells in amniotic fluid was harvested, and whole exon sequencing and CNV analysis were used to test those pathogenic genes of heterotopic gray matter disease. The results showed the deletion of FLNA gene exon. Therefore, the ultrasound combined with fetal brain MRI could effectively improve the diagnosis rate of heterotopic gray matter, and chromosome examination could screen out some pathogenic causes and provide help for the next pregnancy. This case can enrich our understanding of prenatal ultrasound examination, the complicated malformations and other clinical manifestations of fetal brain heterotopic gray matter.

Key words: Periventricular nodular heterotopias, Ependyma, Ultrasonography,prenatal, Magnetic resonance imaging, Prenatal diagnosis, Case reports