Evidence map›Paper›PMID 41283366›Full record

ReviewInternational journal of neonatal screening2025

Multiplexable, High-Throughput DNA-Based Technologies in Screening and Confirmatory Testing of Newborn Conditions: A Scoping Review.

Terence Diane Fabella, Joery den Hoed, Lidewij Henneman, Wendy Rodenburg, Johannes C F Ket, Jan Schouten, Erik A Sistermans

Abstract readReview
In one paragraph

Review in International journal of neonatal screening, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing 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

4 citing papers in PubMed.

  1. Review
  2. Article
  3. Article
  4. 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

7 authors.

Terence Diane FabellaDepartment of Human Genetics, Amsterdam UMC, Location Vrije Universiteit Amsterdam, 1007 MB Amsterdam, The Netherlands.ORCID 0009-0002-3244-301X
Joery den HoedMRC Holland, 1057 DL Amsterdam, The Netherlands.ORCID 0000-0001-6614-876X
Lidewij HennemanDepartment of Human Genetics, Amsterdam UMC, Location Vrije Universiteit Amsterdam, 1007 MB Amsterdam, The Netherlands.ORCID 0000-0003-3531-0597
Wendy RodenburgCentre for Health Protection, National Institute for Public Health and the Environment (RIVM), 3721 MA Bilthoven, The Netherlands.
Johannes C F KetMedical Library, Vrije Universiteit Amsterdam, 1081 HV Amsterdam, The Netherlands.ORCID 0000-0002-1909-3150
Jan SchoutenMRC Holland, 1057 DL Amsterdam, The Netherlands.
Erik A SistermansDepartment of Human Genetics, Amsterdam UMC, Location Vrije Universiteit Amsterdam, 1007 MB Amsterdam, The Netherlands.ORCID 0000-0001-7187-4563

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Newborn screening (NBS) is evolving as novel technologies offer the opportunities to include a broader range of treatable disorders in its programs. Multiplexable, high-throughput DNA-based technologies such as next-generation sequencing (NGS) are being explored to improve and expand disease detection, although several issues have been raised with its use. This scoping review aimed to identify multiplexable, high-throughput, DNA-based technologies that were used for screening or confirmatory testing of newborn disorders in published studies. Available evidence on the appropriateness of technologies in the NBS context was extracted. A literature search (Medline, Embase, and Web of Science) was performed from inception up to April 2024 in collaboration with a medical information specialist. After selection, 26 journal articles were included that used these technologies for either screening (

Indexed as

DNA-based technologiesMassARRAYnewborn screeningnext-generation sequencingqPCRtargeted sequencingwhole-exome sequencingwhole-genome sequencing

Identifiers

PMID41283366
PMCPMC12641697

What OpenQuestion holds

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LicenceCC BY
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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.