Whole Genome Sequencing in the Evaluation of Fetal Structural Anomalies: A Parallel Test with Chromosomal Microarray Plus Whole Exome Sequencing

被引：54

作者：

Zhou, Jia ^{[1
]}

Yang, Ziying ^{[2
,3
]}

Sun, Jun ^{[2
,3
]}

Liu, Lipei ^{[2
,3
]}

Zhou, Xinyao ^{[1
]}

Liu, Fengxia ^{[2
,3
]}

Xing, Ya ^{[1
]}

Cui, Shuge ^{[2
,3
]}

Xiong, Shiyi ^{[1
]}

Liu, Xiaoyu ^{[2
,3
]}

Yang, Yingjun ^{[1
]}

Wei, Xiuxiu ^{[2
,3
]}

Zou, Gang ^{[1
]}

Wang, Zhonghua ^{[2
,3
]}

Wei, Xing ^{[1
]}

Wang, Yaoshen ^{[2
,3
]}

Zhang, Yun ^{[1
]}

Yan, Saiying ^{[2
,3
]}

Wu, Fengyu ^{[1
]}

Zeng, Fanwei ^{[2
,4
]}

Wang, Jian ^{[5
,6
]}

Duan, Tao ^{[1
]}

Peng, Zhiyu ^{[2
]}

Sun, Luming ^{[1
]}

机构：

[1] Tongji Univ, Sch Med, Shanghai Matern & Infant Hosp 1, Shanghai 201204, Peoples R China

[2] BGI Shenzhen, BGI Genom, Shenzhen 518083, Peoples R China

[3] BGI Shenzhen, BGI Tianjin, Tianjin Med Lab, Tianjin 300308, Peoples R China

[4] Univ Copenhagen, Fac Sci, Dept Biol, DK-2200 Copenhagen, Denmark

[5] Shanghai Jiao Tong Univ, Sch Med, Shanghai Childrens Med Ctr, Dept Med Genet, Shanghai 200127, Peoples R China

[6] Shanghai Jiao Tong Univ, Sch Med, Shanghai Childrens Med Ctr, Mol Diagnost Lab, Shanghai 200127, Peoples R China

来源：

GENES | 2021年 / 12卷 / 03期

关键词：

whole genome sequencing; chromosomal microarray; whole exome sequencing; fetal structural anomalies; prenatal diagnosis;

D O I：

10.3390/genes12030376

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Whole genome sequencing (WGS) is a powerful tool for postnatal genetic diagnosis, but relevant clinical studies in the field of prenatal diagnosis are limited. The present study aimed to prospectively evaluate the utility of WGS compared with chromosomal microarray (CMA) and whole exome sequencing (WES) in the prenatal diagnosis of fetal structural anomalies. We performed trio WGS (approximate to 40-fold) in parallel with CMA in 111 fetuses with structural or growth anomalies, and sequentially performed WES when CMA was negative (CMA plus WES). In comparison, WGS not only detected all pathogenic genetic variants in 22 diagnosed cases identified by CMA plus WES, yielding a diagnostic rate of 19.8% (22/110), but also provided additional and clinically significant information, including a case of balanced translocations and a case of intrauterine infection, which might not be detectable by CMA or WES. WGS also required less DNA (100 ng) as input and could provide a rapid turnaround time (TAT, 18 +/- 6 days) compared with that (31 +/- 8 days) of the CMA plus WES. Our results showed that WGS provided more comprehensive and precise genetic information with a rapid TAT and less DNA required than CMA plus WES, which enables it as an alternative prenatal diagnosis test for fetal structural anomalies.

引用

页码：1 / 14

页数：14

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