Detection of copy number variation associated with ventriculomegaly in fetuses using single nucleotide polymorphism arrays

Abstract Etiopathogenesis of fetal ventriculomegaly is poorly understood. Associations between fetal isolated ventriculomegaly and copy number variations (CNVs) have been previously described. We investigated the correlations between fetal ventriculomegaly—with or without other ultrasound anomalies—...

Descripción completa

Guardado en:

Detalles Bibliográficos
Autores principales:	Huili Xue, Aili Yu, Na Lin, Xuemei Chen, Min Lin, Yan Wang, Hailong Huang, Liangpu Xu
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2021
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/37d796801dc5425589fe3bf0cbd7d314
Etiquetas:	Agregar Etiqueta Sin Etiquetas, Sea el primero en etiquetar este registro!

id	oai:doaj.org-article:37d796801dc5425589fe3bf0cbd7d314
record_format	dspace
spelling	oai:doaj.org-article:37d796801dc5425589fe3bf0cbd7d3142021-12-02T11:35:52ZDetection of copy number variation associated with ventriculomegaly in fetuses using single nucleotide polymorphism arrays10.1038/s41598-021-83147-72045-2322https://doaj.org/article/37d796801dc5425589fe3bf0cbd7d3142021-03-01T00:00:00Zhttps://doi.org/10.1038/s41598-021-83147-7https://doaj.org/toc/2045-2322Abstract Etiopathogenesis of fetal ventriculomegaly is poorly understood. Associations between fetal isolated ventriculomegaly and copy number variations (CNVs) have been previously described. We investigated the correlations between fetal ventriculomegaly—with or without other ultrasound anomalies—and chromosome abnormalities. 222 fetuses were divided into four groups: (I) 103 (46.4%) cases with isolated ventriculomegaly, (II) 41 (18.5%) cases accompanied by soft markers, (III) 33 (14.9%) cases complicated with central nervous system (CNS) anomalies, and (IV) 45 (20.3%) cases with accompanying anomalies. Karyotyping and single nucleotide polymorphism (SNP) array were used in parallel. Karyotype abnormalities were identified in 15/222 (6.8%) cases. Karyotype abnormalities in group I, II, III, and IV were 4/103 (3.9%), 2/41 (4.9%), 4/33 (12.1%), and 5/45 (11.1%), respectively. Concerning the SNP array analysis results, 31/222 (14.0%) were CNVs, CNVs in groups I, II, III, and IV were 11/103 (10.7%), 6/41 (14.6%), 9/33 (27.3%), and 5/45 fetuses (11.1%), respectively. Detections of clinical significant CNVs were higher in non-isolated ventriculomegaly than in isolated ventriculomegaly (16.81% vs 10.7%, P = 0.19). SNP arrays can effectively identify CNVs in fetuses with ventriculomegaly and increase the abnormal chromosomal detection rate by approximately 7.2%, especially ventriculomegaly accompanied by CNS anomalies.Huili XueAili YuNa LinXuemei ChenMin LinYan WangHailong HuangLiangpu XuNature PortfolioarticleMedicineRScienceQENScientific Reports, Vol 11, Iss 1, Pp 1-12 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Huili Xue Aili Yu Na Lin Xuemei Chen Min Lin Yan Wang Hailong Huang Liangpu Xu Detection of copy number variation associated with ventriculomegaly in fetuses using single nucleotide polymorphism arrays
description	Abstract Etiopathogenesis of fetal ventriculomegaly is poorly understood. Associations between fetal isolated ventriculomegaly and copy number variations (CNVs) have been previously described. We investigated the correlations between fetal ventriculomegaly—with or without other ultrasound anomalies—and chromosome abnormalities. 222 fetuses were divided into four groups: (I) 103 (46.4%) cases with isolated ventriculomegaly, (II) 41 (18.5%) cases accompanied by soft markers, (III) 33 (14.9%) cases complicated with central nervous system (CNS) anomalies, and (IV) 45 (20.3%) cases with accompanying anomalies. Karyotyping and single nucleotide polymorphism (SNP) array were used in parallel. Karyotype abnormalities were identified in 15/222 (6.8%) cases. Karyotype abnormalities in group I, II, III, and IV were 4/103 (3.9%), 2/41 (4.9%), 4/33 (12.1%), and 5/45 (11.1%), respectively. Concerning the SNP array analysis results, 31/222 (14.0%) were CNVs, CNVs in groups I, II, III, and IV were 11/103 (10.7%), 6/41 (14.6%), 9/33 (27.3%), and 5/45 fetuses (11.1%), respectively. Detections of clinical significant CNVs were higher in non-isolated ventriculomegaly than in isolated ventriculomegaly (16.81% vs 10.7%, P = 0.19). SNP arrays can effectively identify CNVs in fetuses with ventriculomegaly and increase the abnormal chromosomal detection rate by approximately 7.2%, especially ventriculomegaly accompanied by CNS anomalies.
format	article
author	Huili Xue Aili Yu Na Lin Xuemei Chen Min Lin Yan Wang Hailong Huang Liangpu Xu
author_facet	Huili Xue Aili Yu Na Lin Xuemei Chen Min Lin Yan Wang Hailong Huang Liangpu Xu
author_sort	Huili Xue
title	Detection of copy number variation associated with ventriculomegaly in fetuses using single nucleotide polymorphism arrays
title_short	Detection of copy number variation associated with ventriculomegaly in fetuses using single nucleotide polymorphism arrays
title_full	Detection of copy number variation associated with ventriculomegaly in fetuses using single nucleotide polymorphism arrays
title_fullStr	Detection of copy number variation associated with ventriculomegaly in fetuses using single nucleotide polymorphism arrays
title_full_unstemmed	Detection of copy number variation associated with ventriculomegaly in fetuses using single nucleotide polymorphism arrays
title_sort	detection of copy number variation associated with ventriculomegaly in fetuses using single nucleotide polymorphism arrays
publisher	Nature Portfolio
publishDate	2021
url	https://doaj.org/article/37d796801dc5425589fe3bf0cbd7d314
work_keys_str_mv	AT huilixue detectionofcopynumbervariationassociatedwithventriculomegalyinfetusesusingsinglenucleotidepolymorphismarrays AT ailiyu detectionofcopynumbervariationassociatedwithventriculomegalyinfetusesusingsinglenucleotidepolymorphismarrays AT nalin detectionofcopynumbervariationassociatedwithventriculomegalyinfetusesusingsinglenucleotidepolymorphismarrays AT xuemeichen detectionofcopynumbervariationassociatedwithventriculomegalyinfetusesusingsinglenucleotidepolymorphismarrays AT minlin detectionofcopynumbervariationassociatedwithventriculomegalyinfetusesusingsinglenucleotidepolymorphismarrays AT yanwang detectionofcopynumbervariationassociatedwithventriculomegalyinfetusesusingsinglenucleotidepolymorphismarrays AT hailonghuang detectionofcopynumbervariationassociatedwithventriculomegalyinfetusesusingsinglenucleotidepolymorphismarrays AT liangpuxu detectionofcopynumbervariationassociatedwithventriculomegalyinfetusesusingsinglenucleotidepolymorphismarrays
_version_	1718395813371052032

Detection of copy number variation associated with ventriculomegaly in fetuses using single nucleotide polymorphism arrays

Ejemplares similares