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Whole exome sequencing of fetal structural anomalies detected by ultrasonography
Journal of Human Genetics ( IF 3.5 ) Pub Date : 2020-11-03 , DOI: 10.1038/s10038-020-00869-8
Hiromi Aoi 1, 2 , Takeshi Mizuguchi 1 , Toshifumi Suzuki 2, 3 , Shintaro Makino 2 , Yuka Yamamoto 2 , Jun Takeda 2 , Yojiro Maruyama 2 , Rie Seyama 1, 2 , Shiori Takeuchi 2 , Yuri Uchiyama 1, 4 , Yoshiteru Azuma 1 , Kohei Hamanaka 1 , Atsushi Fujita 1 , Eriko Koshimizu 1 , Satoko Miyatake 1, 5 , Satomi Mitsuhashi 1 , Atsushi Takata 1 , Noriko Miyake 1 , Satoru Takeda 2 , Atsuo Itakura 2 , Naomichi Matsumoto 1
Affiliation  

The objective of this study was to evaluate the efficacy of whole exome sequencing (WES) for the genetic diagnosis of cases presenting with fetal structural anomalies detected by ultrasonography. WES was performed on 19 cases with prenatal structural anomalies. Genomic DNA was extracted from umbilical cords or umbilical blood obtained shortly after birth. WES data were analyzed on prenatal phenotypes alone, and the data were re-analyzed after information regarding the postnatal phenotype was obtained. Based solely on the fetal phenotype, pathogenic, or likely pathogenic, single nucleotide variants were identified in 5 of 19 (26.3%) cases. Moreover, we detected trisomy 21 in two cases by WES-based copy number variation analysis. The overall diagnostic rate was 36.8% (7/19). They were all compatible with respective fetal structural anomalies. By referring to postnatal phenotype information, another candidate variant was identified by a postnatal clinical feature that was not detected in prenatal screening. As detailed phenotyping is desirable for better diagnostic rates in WES analysis, we should be aware that fetal phenotype is a useful, but sometimes limited source of information for comprehensive genetic analysis. It is important to amass more data of genotype–phenotype correlations, especially to appropriately assess the validity of WES in prenatal settings.



中文翻译:

超声检测到的胎儿结构异常的全外显子组测序

本研究的目的是评估全外显子组测序(WES)对超声检测到的胎儿结构异常病例的遗传诊断的功效。对 19 例产前结构异常的病例进行了 WES。从出生后不久获得的脐带或脐血中提取基因组 DNA。WES 数据仅对产前表型进行分析,并在获得有关产后表型的信息后重新分析数据。仅根据胎儿表型,在 19 例 (26.3%) 病例中的 5 例中发现了致病性或可能致病性的单核苷酸变异。此外,我们通过基于 WES 的拷贝数变异分析在两种情况下检测到 21 三体。总体诊断率为 36.8% (7/19)。它们都与各自的胎儿结构异常相容。通过参考产后表型信息,通过产前筛查未检测到的产后临床特征确定了另一种候选变异。由于详细的表型对于提高 WES 分析的诊断率是可取的,我们应该意识到胎儿表型是一种有用的,但有时是全面遗传分析的有限信息来源。积累更多基因型-表型相关性的数据很重要,尤其是在产前环境中适当评估 WES 的有效性。但有时进行全面遗传分析的信息来源有限。积累更多基因型-表型相关性的数据很重要,尤其是适当评估 WES 在产前环境中的有效性。但有时进行全面遗传分析的信息来源有限。积累更多基因型-表型相关性的数据很重要,尤其是适当评估 WES 在产前环境中的有效性。

更新日期:2020-11-03
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