Prenatal diagnosis of 21 fetuses with balanced chromosomal abnormalities (BCAs) using whole-genome sequencing
Balanced chromosomal abnormalities (BCAs) are the most common chromosomal abnormalities and the frequency of congenital abnormalities is approximately twice as high in newborns with a de novo BCA, but a prenatal diagnosis based on BCAs is subject to evaluation. To detect translocation breakpoints an...
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2022-09-01
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| Series: | Frontiers in Genetics |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fgene.2022.951829/full |
| _version_ | 1818050213221236736 |
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| author | Fang Fu Fang Fu Ru Li Xiao Dang Qiuxia Yu Ke Xu Weiyue Gu Dan Wang Xin Yang Min Pan Li Zhen Yongling Zhang Fatao Li Xiangyi Jing Fucheng Li Dongzhi Li Can Liao |
| author_facet | Fang Fu Fang Fu Ru Li Xiao Dang Qiuxia Yu Ke Xu Weiyue Gu Dan Wang Xin Yang Min Pan Li Zhen Yongling Zhang Fatao Li Xiangyi Jing Fucheng Li Dongzhi Li Can Liao |
| author_sort | Fang Fu |
| collection | DOAJ |
| description | Balanced chromosomal abnormalities (BCAs) are the most common chromosomal abnormalities and the frequency of congenital abnormalities is approximately twice as high in newborns with a de novo BCA, but a prenatal diagnosis based on BCAs is subject to evaluation. To detect translocation breakpoints and conduct a prenatal diagnosis, we performed whole-genome sequencing (WGS) in 21 subjects who were found BCAs, 19 balanced chromosome translocations and two inversions, in prenatal screening. In 16 BCAs on non-N-masked regions (non-NMRs), WGS detected 13 (81.2%, 13/16) BCAs, including all the inversions. All the breakpoints of 12 (12/14) cases of sufficient DNA were confirmed by Sanger sequencing. In 13 interrupted genes, CACNA1E (in case 12) and STARD7 (in case 17) are known causative and PDCL was found in subject (case 11) with situs inversus for the first time. Case 12 with abnormal ultrasound reached a definitive genetic diagnosis of CACNA1E-disease, while STARD7 exon deletion has never been found causative in patients. WGS provides the possibility of prenatal diagnosis in fetuses with BCAs, and its clinical significance also lies in providing data for postnatal diagnosis. |
| first_indexed | 2024-12-10T10:49:54Z |
| format | Article |
| id | doaj.art-88d60392c67d4c40acd6feef9ffd394e |
| institution | Directory Open Access Journal |
| issn | 1664-8021 |
| language | English |
| last_indexed | 2024-12-10T10:49:54Z |
| publishDate | 2022-09-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Genetics |
| spelling | doaj.art-88d60392c67d4c40acd6feef9ffd394e2022-12-22T01:52:02ZengFrontiers Media S.A.Frontiers in Genetics1664-80212022-09-011310.3389/fgene.2022.951829951829Prenatal diagnosis of 21 fetuses with balanced chromosomal abnormalities (BCAs) using whole-genome sequencingFang Fu0Fang Fu1Ru Li2Xiao Dang3Qiuxia Yu4Ke Xu5Weiyue Gu6Dan Wang7Xin Yang8Min Pan9Li Zhen10Yongling Zhang11Fatao Li12Xiangyi Jing13Fucheng Li14Dongzhi Li15Can Liao16Prenatal Diagnostic Center, Guangzhou Women and Children’s Medical Center, Guangzhou, ChinaGuangzhou Medical University, Guangzhou, ChinaPrenatal Diagnostic Center, Guangzhou Women and Children’s Medical Center, Guangzhou, ChinaPrenatal Diagnostic Center, Guangzhou Women and Children’s Medical Center, Guangzhou, ChinaPrenatal Diagnostic Center, Guangzhou Women and Children’s Medical Center, Guangzhou, ChinaChigene (Beijing) Translational Medical Research Center Co,. Ltd., Beijing, ChinaChigene (Beijing) Translational Medical Research Center Co,. Ltd., Beijing, ChinaPrenatal Diagnostic Center, Guangzhou Women and Children’s Medical Center, Guangzhou, ChinaPrenatal Diagnostic Center, Guangzhou Women and Children’s Medical Center, Guangzhou, ChinaPrenatal Diagnostic Center, Guangzhou Women and Children’s Medical Center, Guangzhou, ChinaPrenatal Diagnostic Center, Guangzhou Women and Children’s Medical Center, Guangzhou, ChinaPrenatal Diagnostic Center, Guangzhou Women and Children’s Medical Center, Guangzhou, ChinaPrenatal Diagnostic Center, Guangzhou Women and Children’s Medical Center, Guangzhou, ChinaGuangzhou Medical University, Guangzhou, ChinaGuangzhou Medical University, Guangzhou, ChinaGuangzhou Medical University, Guangzhou, ChinaGuangzhou Medical University, Guangzhou, ChinaBalanced chromosomal abnormalities (BCAs) are the most common chromosomal abnormalities and the frequency of congenital abnormalities is approximately twice as high in newborns with a de novo BCA, but a prenatal diagnosis based on BCAs is subject to evaluation. To detect translocation breakpoints and conduct a prenatal diagnosis, we performed whole-genome sequencing (WGS) in 21 subjects who were found BCAs, 19 balanced chromosome translocations and two inversions, in prenatal screening. In 16 BCAs on non-N-masked regions (non-NMRs), WGS detected 13 (81.2%, 13/16) BCAs, including all the inversions. All the breakpoints of 12 (12/14) cases of sufficient DNA were confirmed by Sanger sequencing. In 13 interrupted genes, CACNA1E (in case 12) and STARD7 (in case 17) are known causative and PDCL was found in subject (case 11) with situs inversus for the first time. Case 12 with abnormal ultrasound reached a definitive genetic diagnosis of CACNA1E-disease, while STARD7 exon deletion has never been found causative in patients. WGS provides the possibility of prenatal diagnosis in fetuses with BCAs, and its clinical significance also lies in providing data for postnatal diagnosis.https://www.frontiersin.org/articles/10.3389/fgene.2022.951829/fullBalanced chromosomal abnormalitiesprenatal diagnosiswhole-genome sequencingCACNA1EPDCL |
| spellingShingle | Fang Fu Fang Fu Ru Li Xiao Dang Qiuxia Yu Ke Xu Weiyue Gu Dan Wang Xin Yang Min Pan Li Zhen Yongling Zhang Fatao Li Xiangyi Jing Fucheng Li Dongzhi Li Can Liao Prenatal diagnosis of 21 fetuses with balanced chromosomal abnormalities (BCAs) using whole-genome sequencing Frontiers in Genetics Balanced chromosomal abnormalities prenatal diagnosis whole-genome sequencing CACNA1E PDCL |
| title | Prenatal diagnosis of 21 fetuses with balanced chromosomal abnormalities (BCAs) using whole-genome sequencing |
| title_full | Prenatal diagnosis of 21 fetuses with balanced chromosomal abnormalities (BCAs) using whole-genome sequencing |
| title_fullStr | Prenatal diagnosis of 21 fetuses with balanced chromosomal abnormalities (BCAs) using whole-genome sequencing |
| title_full_unstemmed | Prenatal diagnosis of 21 fetuses with balanced chromosomal abnormalities (BCAs) using whole-genome sequencing |
| title_short | Prenatal diagnosis of 21 fetuses with balanced chromosomal abnormalities (BCAs) using whole-genome sequencing |
| title_sort | prenatal diagnosis of 21 fetuses with balanced chromosomal abnormalities bcas using whole genome sequencing |
| topic | Balanced chromosomal abnormalities prenatal diagnosis whole-genome sequencing CACNA1E PDCL |
| url | https://www.frontiersin.org/articles/10.3389/fgene.2022.951829/full |
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