Prenatal diagnosis of posterior fossa anomalies: Additional value of chromosomal microarray analysis in fetuses with cerebellar hypoplasia
Prenatal diagnosis of posterior fossa anomalies: Additional value of chromosomal microarray analysis in fetuses with cerebellar hypoplasia
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后颅窝异常的产前诊断：染色体微阵列分析对小脑发育不全胎儿的附加价值。
DOI：
10.1002/pd.5190
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发表时间：
2018-01-01
影响因子：
3
通讯作者：
Luo, Yanmin
中科院分区：
文献类型：
--
作者：
Zou, Zhiyong;Huang, Linhuan;Luo, Yanmin
目的探讨高分辨染色体微阵列分析(CMA)检测的拷贝数变异(CNV)与产前后颅窝畸形(PFAs)尤其是小脑发育不全(CH)的关系。方法77例PFAs孕妇行高分辨染色体微阵列分析。小脑发育不良(54.6%，6/11)、蛔虫发育不良(33.3%，1/3)和Dandy-Walker畸形(25.0%，3/12)胎儿CNV的检出率较高。与无其他畸形的胎儿相比，有CH及附加畸形的胎儿CMA的检出率较高(33.3%比88.9%)。3例单侧先天性马蹄内翻足完好，CMA结果正常，预后正常。5p15缺失、6q末端缺失和X染色体异常是与小脑发育不良相关的最常见的遗传缺陷。结论在PFA胎儿中，小脑发育不良、蛔虫发育不良或Dandy-Walker畸形的胎儿发生临床意义CNV的风险最高。染色体微阵列分析揭示了与CH相关的最常见的染色体异常。
ObjectiveTo elucidate the relationship between copy number variations (CNVs) detected by high-resolution chromosomal microarray analysis (CMA) and the type of prenatal posterior fossa anomalies (PFAs), especially cerebellar hypoplasia (CH).MethodsThis study involved 77 pregnancies with PFAs who underwent CMA.ResultsChromosomal aberrations including pathogenic CNVs and variants of unknown significance were detected in 31.2% (24/77) of all cases by CMA and in 18.5% (12/65) in fetuses with normal karyotypes. The high detection rate of clinically significant CNVs was evident in fetuses with cerebellar hypoplasia (54.6%, 6/11), vermis hypoplasia (33.3%, 1/3), and Dandy-Walker malformation (25.0%, 3/12). Compare with fetuses without other anomalies, cases with CH and additional malformations had the higher CMA detection rate (33.3% vs 88.9%). Three cases of isolated unilateral CH with intact vermis and normal CMA result had normal outcomes. The deletion of 5p15, 6q terminal deletion, and X chromosome aberrations were the most frequent genetic defects associated with cerebellar hypoplasia.ConclusionAmong fetuses with PFA, those with cerebellar hypoplasia, vermis hypoplasia, or Dandy-Walker malformation are at the highest risk of clinically significant CNVs. Chromosomal microarray analysis revealed the most frequent chromosomal aberrations associated with CH.