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Prenatal Diagnosed Agenesis of the Corpus Callosum: Identifying the Underlying Genetic Etiologies

羊膜穿刺术 胼胝体发育不全 产前诊断 医学 胼胝体 病因学 遗传咨询 前脑无裂 外显子组测序 拷贝数变化 怀孕 核型 克氏综合征 胼胝体发育不全 儿科 胎儿 病理 遗传学 生物 染色体 基因 突变 基因组
作者
Xing Wei,Luyao Cai,Luye Zhang,Jianping Chen,Yun Zhang,Meng Meng,Yingjun Yang,Xinyao Zhou,Gang Zou,Luming Sun
出处
期刊:Prenatal Diagnosis [Wiley]
卷期号:44 (10): 1142-1149
标识
DOI:10.1002/pd.6641
摘要

ABSTRACT Objective To assess the genetic etiologies underlying agenesis of the corpus callosum (ACC) and its pregnancy outcomes in the era of next‐generation sequencing. Methods A retrospective analysis was conducted on prospectively collected prenatal ACC cases in which amniocentesis was performed between January 2016 and December 2022. ACC was divided into non‐isolated and isolated according to the presence or absence of ultrasound abnormalities. Chromosomal microarray analysis (CMA), karyotyping and exome sequencing (ES) were performed after genetic counseling. Pregnancy outcomes were assessed by pediatric neurosurgeons and were followed up by telephone through their parents. Results Sixty‐eight fetuses with ACC were enrolled in this study. CMA detected eight cases with pathogenic copy number variants (CNVs) and all were non‐isolated ACC, with a detection rate of 11.8% (8/68). Among the CMA abnormalities, the majority (6/8) were detectable by karyotyping. ES was performed in 26 cases with normal CMA, revealing pathogenic or likely pathogenic gene variations in 12 cases (46.2%, 12/26), involving L1CMA, SMARCB1, PPP2R1A, ARID1B, USP34, CDC42, NFIA and DCC genes. The detection rates of ES in isolated and non‐isolated ACC were 40% (6/15) and 54.5% (6/11), respectively. After excluding cases where pregnancy was terminated (56 cases), there were 12 live births, ranging in age from 15 months to 7 years. Of these, 91.7% (11 out of 12) demonstrated normal neurodevelopmental outcomes. Specifically, all five cases with isolated ACC and negative ES results exhibited normal neurodevelopment. The remaining six cases with favorable outcomes were all isolated ACC, among which ES identified variants of DCC and USP34 gene in one each case. The other four cases were CMA‐negative and declined ES. Conclusions We highlight the efficacy of prenatal ES in determining the genetic etiology of ACC, whether isolated or not. Favorable neurodevelopmental outcomes were observed when ACC was isolated and with normal ES results.
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