Evidence map›Paper›PMID 40123302›Full record

ArticleThe Australian & New Zealand journal of obstetrics & gynaecology2025

The PreGen Research Program: Implementing Prenatal Genomic Testing in Australia-A Commentary.

Sarah Long, Deborah Schofield, Josh Kraindler, Rebecca Vink, Kate Ross, Natalie Hart, Holly Evans, Alyssa Wilson, Jon Hyett, Claire E Wakefield and 8 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in The Australian & New Zealand journal of obstetrics & gynaecology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing 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

2 citing papers in PubMed.

  1. Article
  2. Article
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

18 authors.

Sarah LongNeuroscience Research Australia (NeuRA), Sydney, New South Wales, Australia.
Deborah SchofieldGenIMPACT: Centre for Economic Impacts of Genomic Medicine, Macquarie Business School, Macquarie University, Sydney, New South Wales, Australia.
Josh KraindlerGenIMPACT: Centre for Economic Impacts of Genomic Medicine, Macquarie Business School, Macquarie University, Sydney, New South Wales, Australia.
Rebecca VinkNeuroscience Research Australia (NeuRA), Sydney, New South Wales, Australia.
Kate RossGenetics and Molecular Pathology, Centre of Cancer Biology, South Australia Pathology, Adelaide, South Australia, Australia.
Natalie HartGenIMPACT: Centre for Economic Impacts of Genomic Medicine, Macquarie Business School, Macquarie University, Sydney, New South Wales, Australia.
Holly EvansBehavioural Sciences Unit, Kids Cancer Centre, Sydney Children's Hospital, Randwick, New South Wales, Australia.
Alyssa WilsonNeuroscience Research Australia (NeuRA), Sydney, New South Wales, Australia.
Jon HyettFeto-Maternal Unit, South Western Sydney Local Health District, Sydney, New South Wales, Australia.
Claire E WakefieldBehavioural Sciences Unit, Kids Cancer Centre, Sydney Children's Hospital, Randwick, New South Wales, Australia.
Lauren KeladaBehavioural Sciences Unit, Kids Cancer Centre, Sydney Children's Hospital, Randwick, New South Wales, Australia.
Hamish ScottGenetics and Molecular Pathology, Centre of Cancer Biology, South Australia Pathology, Adelaide, South Australia, Australia.
Sebastian LunkeRoyal Women's Hospital and Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.
Meaghan WallRoyal Women's Hospital and Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.
Michael F BuckleyNew South Wales Health Pathology Genomics, Prince of Wales Hospital, Randwick, New South Wales, Australia.
Gemma FernihoughNeuroscience Research Australia (NeuRA), Sydney, New South Wales, Australia.ORCID 0009-0000-4383-3756
George McGillivrayRoyal Women's Hospital and Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.
Tony RoscioliNeuroscience Research Australia (NeuRA), Sydney, New South Wales, Australia.

Funding

Federal Government GHFMPACI000006
6 · The paper itself

Abstract

Prenatal genomic sequencing, which can provide a significantly increased diagnostic rate for fetal structural anomaly (FSA) compared with karyotype and microarray, is not available uniformly across Australia. PreGen, a 5-year translational research program, has identified significant barriers to implementation including access to funding, the availability of genomic testing, access to termination of pregnancy services and the availability of specialist genomic centres. A federal item number for prenatal genomic testing would increase equitable test availability and reduce delays to diagnoses by making them in pregnancy whilst removing the need for low-yield diagnostic interventions and enabling personalised patient management and family support.

Indexed as

Congenital AbnormalitiesGenetic TestingPrenatal DiagnosisAustraliaFemaleGenomicsHumansPregnancyTranslational Research, Biomedicalfetusgenetic counsellinggenetic testingpregnancyprenatal diagnosis

Identifiers

PMID40123302
PMCPMC12668882

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
Read underepoch 390

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.