Affiliation:
1. Department of Obstetrics and Gynecology The First Affiliated Hospital of Jinan University Guangzhou Guangdong China
2. Prenatal Diagnosis Center Maternal & Child Health Hospital of Guangxi Zhuang Autonomous Region Nanning Guangxi China
3. Medical Genetic Center Guangdong Women and Children Hospital Guangzhou Guangdong China
Abstract
AbstractBackgroundMalformations of cortical development (MCD) are a group of congenital disorders characterized by structural abnormalities in the brain cortex. The clinical manifestations include refractory epilepsy, mental retardation, and cognitive impairment. Genetic factors play a key role in the etiology of MCD. Currently, there is no curative treatment for MCD. Phenotypes such as epilepsy and cerebral palsy cannot be observed in the fetus. Therefore, the diagnosis of MCD is typically based on fetal brain magnetic resonance imaging (MRI), ultrasound, or genetic testing. The recent advances in neuroimaging have enabled the in‐utero diagnosis of MCD using fetal ultrasound or MRI.MethodsThe present study retrospectively reviewed 32 cases of fetal MCD diagnosed by ultrasound or MRI. Then, the chromosome karyotype analysis, single nucleotide polymorphism array or copy number variation sequencing, and whole‐exome sequencing (WES) findings were presented.ResultsPathogenic copy number variants (CNVs) or single‐nucleotide variants (SNVs) were detected in 22 fetuses (three pathogenic CNVs [9.4%, 3/32] and 19 SNVs [59.4%, 19/32]), corresponding to a total detection rate of 68.8% (22/32).ConclusionThe results suggest that genetic testing, especially WES, should be performed for fetal MCD, in order to evaluate the outcomes and prognosis, and predict the risk of recurrence in future pregnancies.