Cell-free DNA test for pathogenic copy number variations: A retrospective study

Objective: To evaluate the detection rate (DR) by prenatal cell-free DNA test for pathogenic copy number variations (CNVs)＞2 Mb among pregnancies with fetal ultrasound abnormalities. Materials and methods: This was a retrospective study on 29 pregnant women with fetuses diagnosed as microdeletion/mi...

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Autores principales:	Hong-Lei Duan, Jie Li, Wan-Jun Wang, David S. Cram, Wei Liu, Pei-Xuan Cao, Xiang-Yu Zhu, Ya-Li Hu
Formato:	article
Lenguaje:	EN
Publicado:	Elsevier 2021
Materias:	Cell-free DNA Copy number variations (CNVs) Detection rate (DR) Microdeletion syndromes Microduplication syndromes Gynecology and obstetrics RG1-991
Acceso en línea:	https://doaj.org/article/1e44f1a8164f4de582d0dd4789bb9971
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spelling	oai:doaj.org-article:1e44f1a8164f4de582d0dd4789bb99712021-11-18T04:44:45ZCell-free DNA test for pathogenic copy number variations: A retrospective study1028-455910.1016/j.tjog.2021.09.018https://doaj.org/article/1e44f1a8164f4de582d0dd4789bb99712021-11-01T00:00:00Zhttp://www.sciencedirect.com/science/article/pii/S1028455921002588https://doaj.org/toc/1028-4559Objective: To evaluate the detection rate (DR) by prenatal cell-free DNA test for pathogenic copy number variations (CNVs)＞2 Mb among pregnancies with fetal ultrasound abnormalities. Materials and methods: This was a retrospective study on 29 pregnant women with fetuses diagnosed as microdeletion/microduplication syndromes by prenatal chromosome microarray analysis (CMA). Cell-free DNA from the maternal plasma was sequenced on the NextSeq CN500 sequencer. The quality standard of unique map reads in a single sample was greater than 10 M and only gains and losses of more than 2 Mb were reported. Results: A total of 24 CNVs were identified by cell-free DNA test among the 21 fetuses with pathogenic CNVs identified by prenatal CMA, including 20 consistent CNVs and 4 inconsistent CNVs. Overall, the DR of cell-free DNA test for pathogenic CNVs ＞2 Mb was 69%. Microdeletions or microduplications at 22q11.2 were the most common CNVs, with a DR of 4/5 (80%) and 3/4 (75%) respectively. Conclusion: Cell-free DNA test exhibited a moderate DR for pathogenic CNVs ＞2 Mb among fetuses with ultrasound abnormalities. Cell-free DNA test could provide an opportunity for early screening before the appearance of abnormalities on fetal ultrasound, while further clinical data and cost-effectiveness assessment are needed.Hong-Lei DuanJie LiWan-Jun WangDavid S. CramWei LiuPei-Xuan CaoXiang-Yu ZhuYa-Li HuElsevierarticleCell-free DNACopy number variations (CNVs)Detection rate (DR)Microdeletion syndromesMicroduplication syndromesGynecology and obstetricsRG1-991ENTaiwanese Journal of Obstetrics & Gynecology, Vol 60, Iss 6, Pp 1066-1071 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Cell-free DNA Copy number variations (CNVs) Detection rate (DR) Microdeletion syndromes Microduplication syndromes Gynecology and obstetrics RG1-991
spellingShingle	Cell-free DNA Copy number variations (CNVs) Detection rate (DR) Microdeletion syndromes Microduplication syndromes Gynecology and obstetrics RG1-991 Hong-Lei Duan Jie Li Wan-Jun Wang David S. Cram Wei Liu Pei-Xuan Cao Xiang-Yu Zhu Ya-Li Hu Cell-free DNA test for pathogenic copy number variations: A retrospective study
description	Objective: To evaluate the detection rate (DR) by prenatal cell-free DNA test for pathogenic copy number variations (CNVs)＞2 Mb among pregnancies with fetal ultrasound abnormalities. Materials and methods: This was a retrospective study on 29 pregnant women with fetuses diagnosed as microdeletion/microduplication syndromes by prenatal chromosome microarray analysis (CMA). Cell-free DNA from the maternal plasma was sequenced on the NextSeq CN500 sequencer. The quality standard of unique map reads in a single sample was greater than 10 M and only gains and losses of more than 2 Mb were reported. Results: A total of 24 CNVs were identified by cell-free DNA test among the 21 fetuses with pathogenic CNVs identified by prenatal CMA, including 20 consistent CNVs and 4 inconsistent CNVs. Overall, the DR of cell-free DNA test for pathogenic CNVs ＞2 Mb was 69%. Microdeletions or microduplications at 22q11.2 were the most common CNVs, with a DR of 4/5 (80%) and 3/4 (75%) respectively. Conclusion: Cell-free DNA test exhibited a moderate DR for pathogenic CNVs ＞2 Mb among fetuses with ultrasound abnormalities. Cell-free DNA test could provide an opportunity for early screening before the appearance of abnormalities on fetal ultrasound, while further clinical data and cost-effectiveness assessment are needed.
format	article
author	Hong-Lei Duan Jie Li Wan-Jun Wang David S. Cram Wei Liu Pei-Xuan Cao Xiang-Yu Zhu Ya-Li Hu
author_facet	Hong-Lei Duan Jie Li Wan-Jun Wang David S. Cram Wei Liu Pei-Xuan Cao Xiang-Yu Zhu Ya-Li Hu
author_sort	Hong-Lei Duan
title	Cell-free DNA test for pathogenic copy number variations: A retrospective study
title_short	Cell-free DNA test for pathogenic copy number variations: A retrospective study
title_full	Cell-free DNA test for pathogenic copy number variations: A retrospective study
title_fullStr	Cell-free DNA test for pathogenic copy number variations: A retrospective study
title_full_unstemmed	Cell-free DNA test for pathogenic copy number variations: A retrospective study
title_sort	cell-free dna test for pathogenic copy number variations: a retrospective study
publisher	Elsevier
publishDate	2021
url	https://doaj.org/article/1e44f1a8164f4de582d0dd4789bb9971
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Cell-free DNA test for pathogenic copy number variations: A retrospective study

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