Evidence map›Paper›PMID 40192933›Full record

ArticleThe Cochrane database of systematic reviews2025

Next-generation sequencing (NGS) techniques for pre-symptomatic identification of genetic diseases in newborns.

Sara Pessano, Maria Boldor, Francesca Faravelli, Michelle Fiander, Karsten Juhl Jørgensen, Roger F Soll, Matteo Bruschettini

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in The Cochrane database of systematic reviews, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

7 authors.

Sara PessanoScientific Direction, Clinical Epidemiology Unit, IRCCS Istituto Giannina Gaslini, Genova, Italy.
Maria BoldorDepartment of Neonatology, CHU de Reims, Reims, France.
Francesca FaravelliGenomics and Clinical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genova, Italy.
Michelle FianderVermont Oxford Network, Cochrane Neonatal Group, Burlington, Vermont, USA.
Karsten Juhl JørgensenDepartment of Clinical Research, University of Southern Denmark, Cochrane Denmark and Centre for Evidence Based Medicine Odense, Odense, Denmark.
Roger F SollVermont Oxford Network, Cochrane Neonatal Group, Burlington, Vermont, USA.
Matteo BruschettiniCochrane Sweden, Department of Research, Development, Education and Innovation; Paediatrics, Department of Clinical Sciences Lund, Lund University, Skåne University Hospital, Lund, Sweden.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

objectivesThis is a protocol for a Cochrane Review (intervention). The objectives are as follows: To evaluate the benefits and harms of using NGS techniques compared to conventional newborn screening alone for pre-symptomatic identification of genetic diseases in newborns. SECONDARY

objectivesto explore equity and ethical issues in the application of the new techniques, to inform healthcare decisions by families, carers, and policymakers.

Indexed as

Genetic Diseases, InbornGenetic TestingHigh-Throughput Nucleotide SequencingNeonatal ScreeningHumansInfant, NewbornResearch DesignSystematic Reviews as Topic

Identifiers

PMID40192933
PMCPMC11975189

What OpenQuestion holds

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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.