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Prenatal exome sequencing in fetuses with congenital heart defects.
Clinical Genetics ( IF 3.5 ) Pub Date : 2020-05-14 , DOI: 10.1111/cge.13774
Ru Li 1 , Fang Fu 1 , Qiuxia Yu 1 , Dan Wang 1 , Xiangyi Jing 1 , Yongling Zhang 1 , Fucheng Li 1 , Fatao Li 1 , Jin Han 1 , Min Pan 1 , Li Zhen 1 , Dongzhi Li 1 , Can Liao 1
Affiliation  

The genetic diagnosis of congenital heart defects (CHDs) is challenging because of genetic and phenotypic heterogeneity. The aim of our study was to evaluate the clinical value of whole exome sequencing (WES) in the prenatal diagnosis of CHDs in a large cohort. Trio‐based WES was performed in 260 fetuses with CHDs negative for karyotype and chromosome microarray analysis results. WES produced a diagnostic yield of 10% (26/260) in the entire cohort. Relative high diagnostic rate was observed in cases with cardiac rhabdomyoma (60%), complex CHDs (16.7%), septal defect (14.0%), and conotruncal defect (9.9%). There was no significant difference between the diagnostic yields in simple and complex CHDs groups (9.9% vs 16.7%), and in non‐isolated and isolated CHDs groups (15.7% vs 7.9%). The diagnostic yields in cases with CHDs with soft markers, CHDs with fetal growth restriction, and CHDs with other structural anomalies (syndromic CHDs) were 0 (0/13), 50% (1/2) and 18.2% (10/55), respectively. Variants of unknown significance were detected in 16 (6.2%) fetuses, and secondary findings in 7 (2.7%) cases. Variants in 14 candidate genes were identified. Our study demonstrates an incremental diagnostic yield by trio‐based WES in the prenatal diagnosis of CHDs after routine tests, not as high as expected.

中文翻译:

先天性心脏缺陷胎儿的产前外显子组测序。

由于遗传和表型异质性,先天性心脏缺陷(CHD)的遗传诊断具有挑战性。我们研究的目的是评估全外显子组测序(WES)在大型队列中CHD产前诊断中的临床价值。在260名胎儿中进行了基于Trio的WES,其CHD对核型和染色体微阵列分析结果呈阴性。在整个队列中,WES的诊断产率为10%(26/260)。患有心脏横纹肌瘤(60%),复杂的冠心病(16.7%),室间隔缺损(14.0%)和圆锥体周缺损(9.9%)的患者的诊断率较高。简单和复杂冠心病组的诊断率(9.9%vs. 16.7%)与非隔离和分离冠心病组的诊断率(15.7%vs 7.9%)之间没有显着差异。带有软标记的冠心病病例的诊断率 胎儿生长受限的冠心病和其他结构异常的冠心病(综合性冠心病)分别为0(0/13),50%(1/2)和18.2%(10/55)。在16例(6.2%)胎儿中发现了意义不明的变异,在7例(2.7%)病例中发现了次要发现。确定了14个候选基因的变体。我们的研究表明,在常规检测后,基于三重基因的WES在冠心病的产前诊断中诊断率有所提高,没有达到预期的水平。
更新日期:2020-05-14
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