Epigenomic newborn screening for conditions with intellectual disability and autistic features in Australian newborns.

Alshawsh, M; Wake, M; Gecz, J; Corbett, M; Saffery, R; Pitt, J; Greaves, R; Williams, K; Field, M; Cheong, J; Bui, M; Arora, S; Sadedin, S; Lunke, S; Wall, M; Amor, DJ; Godler, DE

Epigenomic newborn screening for conditions with intellectual disability and autistic features in Australian newborns.

Alshawsh, M Wake, M Gecz, J Corbett, M Saffery, R Pitt, J Greaves, R Williams, K Field, M Cheong, J Bui, M Arora, S Sadedin, S Lunke, S Wall, M Amor, DJ Godler, DE

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Publisher:: Taylor & Francis
Publication Type:: Journal Article
Citation:: Epigenomics, 2024, 16, (18), pp. 1203-1214
Issue Date:: 2024

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Field	Value	Language
dc.contributor.author	Alshawsh, M
dc.contributor.author	Wake, M
dc.contributor.author	Gecz, J
dc.contributor.author	Corbett, M
dc.contributor.author	Saffery, R
dc.contributor.author	Pitt, J
dc.contributor.author	Greaves, R
dc.contributor.author	Williams, K
dc.contributor.author	Field, M
dc.contributor.author	Cheong, J
dc.contributor.author	Bui, M
dc.contributor.author	Arora, S
dc.contributor.author	Sadedin, S
dc.contributor.author	Lunke, S
dc.contributor.author	Wall, M
dc.contributor.author	Amor, DJ
dc.contributor.author	Godler, DE
dc.date.accessioned	2025-01-28T05:29:14Z
dc.date.available	2025-01-28T05:29:14Z
dc.date.issued	2024
dc.identifier.citation	Epigenomics, 2024, 16, (18), pp. 1203-1214
dc.identifier.issn	1750-1911
dc.identifier.issn	1750-192X
dc.identifier.uri	http://hdl.handle.net/10453/184330
dc.description.abstract	This study describes a protocol to assess a novel workflow called Epi-Genomic Newborn Screening (EpiGNs) on 100,000 infants from the state of Victoria, Australia. The workflow uses a first-tier screening approach called methylation-specific quantitative melt analysis (MS-QMA), followed by second and third tier testing including targeted methylation and copy number variation analyzes with droplet digital PCR, EpiTYPER system and low-coverage whole genome sequencing. EpiGNs utilizes only two 3.2 mm newborn blood spot punches to screen for genetic conditions, including fragile X syndrome, Prader-Willi syndrome, Angelman syndrome, Dup15q syndrome and sex chromosome aneuploidies. The program aims to: identify clinically actionable methylation screening thresholds for the first-tier screen and estimate prevalence for the conditions screened.
dc.format	Print-Electronic
dc.language	eng
dc.publisher	Taylor & Francis
dc.relation.ispartof	Epigenomics
dc.relation.isbasedon	10.1080/17501911.2024.2402681
dc.rights	info:eu-repo/semantics/openAccess
dc.subject	0604 Genetics, 1103 Clinical Sciences
dc.subject.classification	3105 Genetics
dc.subject.mesh	Humans
dc.subject.mesh	Neonatal Screening
dc.subject.mesh	Infant, Newborn
dc.subject.mesh	DNA Methylation
dc.subject.mesh	Prader-Willi Syndrome
dc.subject.mesh	Angelman Syndrome
dc.subject.mesh	Intellectual Disability
dc.subject.mesh	Fragile X Syndrome
dc.subject.mesh	DNA Copy Number Variations
dc.subject.mesh	Epigenomics
dc.subject.mesh	Australia
dc.subject.mesh	Female
dc.subject.mesh	Male
dc.subject.mesh	Autistic Disorder
dc.subject.mesh	Chromosomes, Human, Pair 15
dc.subject.mesh	Genetic Testing
dc.subject.mesh	Aneuploidy
dc.subject.mesh	Chromosome Duplication
dc.subject.mesh	Chromosomes, Human, Pair 15
dc.subject.mesh	Humans
dc.subject.mesh	Angelman Syndrome
dc.subject.mesh	Fragile X Syndrome
dc.subject.mesh	Prader-Willi Syndrome
dc.subject.mesh	Aneuploidy
dc.subject.mesh	Neonatal Screening
dc.subject.mesh	Autistic Disorder
dc.subject.mesh	DNA Methylation
dc.subject.mesh	Infant, Newborn
dc.subject.mesh	Australia
dc.subject.mesh	Female
dc.subject.mesh	Male
dc.subject.mesh	Genetic Testing
dc.subject.mesh	DNA Copy Number Variations
dc.subject.mesh	Epigenomics
dc.subject.mesh	Chromosome Duplication
dc.subject.mesh	Intellectual Disability
dc.subject.mesh	Humans
dc.subject.mesh	Neonatal Screening
dc.subject.mesh	Infant, Newborn
dc.subject.mesh	DNA Methylation
dc.subject.mesh	Prader-Willi Syndrome
dc.subject.mesh	Angelman Syndrome
dc.subject.mesh	Intellectual Disability
dc.subject.mesh	Fragile X Syndrome
dc.subject.mesh	DNA Copy Number Variations
dc.subject.mesh	Epigenomics
dc.subject.mesh	Australia
dc.subject.mesh	Female
dc.subject.mesh	Male
dc.subject.mesh	Autistic Disorder
dc.subject.mesh	Chromosomes, Human, Pair 15
dc.subject.mesh	Genetic Testing
dc.subject.mesh	Aneuploidy
dc.subject.mesh	Chromosome Duplication
dc.title	Epigenomic newborn screening for conditions with intellectual disability and autistic features in Australian newborns.
dc.type	Journal Article
utslib.citation.volume	16
utslib.location.activity	England
utslib.for	0604 Genetics
utslib.for	1103 Clinical Sciences
utslib.copyright.status	open_access	*
dc.rights.license	This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0). To view a copy of this license, visit https://creativecommons.org/licenses/by/4.0/
dc.date.updated	2025-01-28T05:29:12Z
pubs.issue	18
pubs.publication-status	Published
pubs.volume	16
utslib.citation.issue	18

Abstract:

This study describes a protocol to assess a novel workflow called Epi-Genomic Newborn Screening (EpiGNs) on 100,000 infants from the state of Victoria, Australia. The workflow uses a first-tier screening approach called methylation-specific quantitative melt analysis (MS-QMA), followed by second and third tier testing including targeted methylation and copy number variation analyzes with droplet digital PCR, EpiTYPER system and low-coverage whole genome sequencing. EpiGNs utilizes only two 3.2 mm newborn blood spot punches to screen for genetic conditions, including fragile X syndrome, Prader-Willi syndrome, Angelman syndrome, Dup15q syndrome and sex chromosome aneuploidies. The program aims to: identify clinically actionable methylation screening thresholds for the first-tier screen and estimate prevalence for the conditions screened.

Please use this identifier to cite or link to this item:

http://hdl.handle.net/10453/184330