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Whole Genome Sequencing in the Evaluation of Fetal Structural Anomalies: A Parallel Test with Chromosomal Microarray Plus Whole Exome Sequencing.
Genes (Basel). 2021 03 06; 12(3)G

Abstract

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 (≈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.

Authors+Show Affiliations

Shanghai First Maternity and Infant Hospital, Tongji University School of Medicine, Shanghai 201204, China.BGI Genomics, BGI-Shenzhen, Shenzhen 518083, China. Tianjin Medical Laboratory, BGI-Tianjin, BGI-Shenzhen, Tianjin 300308, China.BGI Genomics, BGI-Shenzhen, Shenzhen 518083, China. Tianjin Medical Laboratory, BGI-Tianjin, BGI-Shenzhen, Tianjin 300308, China.BGI Genomics, BGI-Shenzhen, Shenzhen 518083, China. Tianjin Medical Laboratory, BGI-Tianjin, BGI-Shenzhen, Tianjin 300308, China.Shanghai First Maternity and Infant Hospital, Tongji University School of Medicine, Shanghai 201204, China.BGI Genomics, BGI-Shenzhen, Shenzhen 518083, China. Tianjin Medical Laboratory, BGI-Tianjin, BGI-Shenzhen, Tianjin 300308, China.Shanghai First Maternity and Infant Hospital, Tongji University School of Medicine, Shanghai 201204, China.BGI Genomics, BGI-Shenzhen, Shenzhen 518083, China. Tianjin Medical Laboratory, BGI-Tianjin, BGI-Shenzhen, Tianjin 300308, China.Shanghai First Maternity and Infant Hospital, Tongji University School of Medicine, Shanghai 201204, China.BGI Genomics, BGI-Shenzhen, Shenzhen 518083, China. Tianjin Medical Laboratory, BGI-Tianjin, BGI-Shenzhen, Tianjin 300308, China.Shanghai First Maternity and Infant Hospital, Tongji University School of Medicine, Shanghai 201204, China.BGI Genomics, BGI-Shenzhen, Shenzhen 518083, China. Tianjin Medical Laboratory, BGI-Tianjin, BGI-Shenzhen, Tianjin 300308, China.Shanghai First Maternity and Infant Hospital, Tongji University School of Medicine, Shanghai 201204, China.BGI Genomics, BGI-Shenzhen, Shenzhen 518083, China. Tianjin Medical Laboratory, BGI-Tianjin, BGI-Shenzhen, Tianjin 300308, China.Shanghai First Maternity and Infant Hospital, Tongji University School of Medicine, Shanghai 201204, China.BGI Genomics, BGI-Shenzhen, Shenzhen 518083, China. Tianjin Medical Laboratory, BGI-Tianjin, BGI-Shenzhen, Tianjin 300308, China.Shanghai First Maternity and Infant Hospital, Tongji University School of Medicine, Shanghai 201204, China.BGI Genomics, BGI-Shenzhen, Shenzhen 518083, China. Tianjin Medical Laboratory, BGI-Tianjin, BGI-Shenzhen, Tianjin 300308, China.Shanghai First Maternity and Infant Hospital, Tongji University School of Medicine, Shanghai 201204, China.BGI Genomics, BGI-Shenzhen, Shenzhen 518083, China. Department of Biology, Faculty of Science, University of Copenhagen, DK-2200 Copenhagen, Denmark.Department of Medical Genetics and Molecular Diagnostic Laboratory, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai 200127, China.Shanghai First Maternity and Infant Hospital, Tongji University School of Medicine, Shanghai 201204, China.BGI Genomics, BGI-Shenzhen, Shenzhen 518083, China.Shanghai First Maternity and Infant Hospital, Tongji University School of Medicine, Shanghai 201204, China.

Pub Type(s)

Comparative Study
Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

33800913

Citation

Zhou, Jia, et al. "Whole Genome Sequencing in the Evaluation of Fetal Structural Anomalies: a Parallel Test With Chromosomal Microarray Plus Whole Exome Sequencing." Genes, vol. 12, no. 3, 2021.
Zhou J, Yang Z, Sun J, et al. Whole Genome Sequencing in the Evaluation of Fetal Structural Anomalies: A Parallel Test with Chromosomal Microarray Plus Whole Exome Sequencing. Genes (Basel). 2021;12(3).
Zhou, J., Yang, Z., Sun, J., Liu, L., Zhou, X., Liu, F., Xing, Y., Cui, S., Xiong, S., Liu, X., Yang, Y., Wei, X., Zou, G., Wang, Z., Wei, X., Wang, Y., Zhang, Y., Yan, S., Wu, F., ... Sun, L. (2021). Whole Genome Sequencing in the Evaluation of Fetal Structural Anomalies: A Parallel Test with Chromosomal Microarray Plus Whole Exome Sequencing. Genes, 12(3). https://doi.org/10.3390/genes12030376
Zhou J, et al. Whole Genome Sequencing in the Evaluation of Fetal Structural Anomalies: a Parallel Test With Chromosomal Microarray Plus Whole Exome Sequencing. Genes (Basel). 2021 03 6;12(3) PubMed PMID: 33800913.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Whole Genome Sequencing in the Evaluation of Fetal Structural Anomalies: A Parallel Test with Chromosomal Microarray Plus Whole Exome Sequencing. AU - Zhou,Jia, AU - Yang,Ziying, AU - Sun,Jun, AU - Liu,Lipei, AU - Zhou,Xinyao, AU - Liu,Fengxia, AU - Xing,Ya, AU - Cui,Shuge, AU - Xiong,Shiyi, AU - Liu,Xiaoyu, AU - Yang,Yingjun, AU - Wei,Xiuxiu, AU - Zou,Gang, AU - Wang,Zhonghua, AU - Wei,Xing, AU - Wang,Yaoshen, AU - Zhang,Yun, AU - Yan,Saiying, AU - Wu,Fengyu, AU - Zeng,Fanwei, AU - Wang,Jian, AU - Duan,Tao, AU - Peng,Zhiyu, AU - Sun,Luming, Y1 - 2021/03/06/ PY - 2021/01/05/received PY - 2021/03/01/revised PY - 2021/03/02/accepted PY - 2021/4/3/entrez PY - 2021/4/4/pubmed PY - 2021/8/4/medline KW - chromosomal microarray KW - fetal structural anomalies KW - prenatal diagnosis KW - whole exome sequencing KW - whole genome sequencing JF - Genes JO - Genes (Basel) VL - 12 IS - 3 N2 - 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 (≈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. SN - 2073-4425 UR - https://www.unboundmedicine.com/medline/citation/33800913/Whole_Genome_Sequencing_in_the_Evaluation_of_Fetal_Structural_Anomalies:_A_Parallel_Test_with_Chromosomal_Microarray_Plus_Whole_Exome_Sequencing_ L2 - https://www.mdpi.com/resolver?pii=genes12030376 DB - PRIME DP - Unbound Medicine ER -