Evidence map›Paper›PMID 39365098›Full record

ArticleEpigenomics2024

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

Mohammed Alshawsh, Melissa Wake, Jozef Gecz, Mark Corbett, Richard Saffery, James Pitt, Ronda Greaves, Katrina Williams, Michael Field, Jeanie Cheong and 7 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Epigenomics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

3 citing papers in PubMed.

  1. Review
  2. Article
  3. Genomic Screening Consortium for Australian Newborns (GenSCAN).Journal of paediatrics and child health · 2025
    Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

17 authors.

Mohammed AlshawshDepartment of Paediatrics, Monash University, Melbourne, VIC, 3168, Australia.ORCID 0000-0001-8342-5183
Melissa WakeMurdoch Children's Research Institute, Parkville, VIC, 3052Australia.ORCID 0000-0001-7501-9257
Jozef GeczRobinson Research Institute & Adelaide Medical School, The University of Adelaide, Adelaide, South Australia, Australia.ORCID 0000-0002-7884-6861
Mark CorbettRobinson Research Institute & Adelaide Medical School, The University of Adelaide, Adelaide, South Australia, Australia.ORCID 0000-0001-9298-3072
Richard SafferyMurdoch Children's Research Institute, Parkville, VIC, 3052Australia.
James PittMurdoch Children's Research Institute, Parkville, VIC, 3052Australia.
Ronda GreavesMurdoch Children's Research Institute, Parkville, VIC, 3052Australia.
Katrina WilliamsDepartment of Paediatrics, Monash University, Melbourne, VIC, 3168, Australia.ORCID 0000-0002-1686-4458
Michael FieldGenetics of Learning Disability Service, Hunter Genetics, Waratah, New South Wales, Australia.
Jeanie CheongMurdoch Children's Research Institute, Parkville, VIC, 3052Australia.
Minh BuiCentre for Epidemiology & Biostatistics, Melbourne School of Population & Global Health, University of Melbourne, Carlton, Australia.
Sheena AroraCentre for Health Economics Research & Evaluation, University of Technology Sydney, Broadway, NSW, Australia.
Simon SadedinVictorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, VIC, Australia.
Sebastian LunkeMurdoch Children's Research Institute, Parkville, VIC, 3052Australia.
Meg WallMurdoch Children's Research Institute, Parkville, VIC, 3052Australia.
David J AmorMurdoch Children's Research Institute, Parkville, VIC, 3052Australia.ORCID 0000-0001-7191-8511
David E GodlerMurdoch Children's Research Institute, Parkville, VIC, 3052Australia.ORCID 0000-0002-6405-269X

Funding

Financial Markets Foundation for Children No. 2017-361Genetics of Learning Disability (GOLD) Service (Dr Field); the Foundation for Prader-Willi Syndrome Research, USA No. 43445 and No. 501393Genomics Health Futures Mission MRFF2016199National Health and Medical Research Council No. 1049299 and No. 1103389Next Generation Clinical Researchers Program-Career Development Fellowship, by the Medical Research Future Fund MRF1141334
6 · The paper itself

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.

Indexed as

DNA MethylationNeonatal ScreeningPrader-Willi SyndromeAneuploidyAngelman SyndromeAustraliaAutistic DisorderChromosome DuplicationChromosomes, Human, Pair 15DNA Copy Number VariationsEpigenomicsFemaleFragile X SyndromeGenetic TestingHumansInfant, Newbornearly detectionepigenomicsEpiGNsnewborn screeningpopulation-wide study

Identifiers

PMID39365098
PMCPMC11487350

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.