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

Pessano, Sara ; Boldor, Maria ; Faravelli, Francesca ; Fiander, Michelle ; Jørgensen, Karsten Juhl ; Soll, Roger F. and Bruschettini, Matteo LU orcid (2025) In Cochrane Database of Systematic Reviews 2025(4).
Abstract

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

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author
; ; ; ; ; and
organization
publishing date
type
Contribution to journal
publication status
published
subject
in
Cochrane Database of Systematic Reviews
volume
2025
issue
4
article number
CD016118
publisher
John Wiley & Sons Inc.
external identifiers
  • pmid:40192933
  • scopus:105002013381
ISSN
1465-1858
DOI
10.1002/14651858.CD016118
language
English
LU publication?
yes
id
8203efc5-7b0d-46f9-b31e-a6b6c35775dc
date added to LUP
2025-08-08 10:53:52
date last changed
2025-08-09 03:14:37
@article{8203efc5-7b0d-46f9-b31e-a6b6c35775dc,
  abstract     = {{<p>Objectives: This 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 objectives: to explore equity and ethical issues in the application of the new techniques, to inform healthcare decisions by families, carers, and policymakers.</p>}},
  author       = {{Pessano, Sara and Boldor, Maria and Faravelli, Francesca and Fiander, Michelle and Jørgensen, Karsten Juhl and Soll, Roger F. and Bruschettini, Matteo}},
  issn         = {{1465-1858}},
  language     = {{eng}},
  number       = {{4}},
  publisher    = {{John Wiley & Sons Inc.}},
  series       = {{Cochrane Database of Systematic Reviews}},
  title        = {{Next-generation sequencing (NGS) techniques for pre-symptomatic identification of genetic diseases in newborns}},
  url          = {{http://dx.doi.org/10.1002/14651858.CD016118}},
  doi          = {{10.1002/14651858.CD016118}},
  volume       = {{2025}},
  year         = {{2025}},
}