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

doi:10.1002/14651858.CD016118

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^*

^*Kontaktforfatter

Giannina Gaslini Institute
Medical Statistics and Biometry Postgraduate School
CHU de Reims
Vermont Oxford Network
The University of Vermont
Lund University

Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review

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.

Originalsprog	Engelsk
Artikelnummer	CD016118
Tidsskrift	Cochrane Database of Systematic Reviews
Vol/bind	2025
Udgave nummer	4
Antal sider	15
ISSN	1465-1858
DOI	https://doi.org/10.1002/14651858.CD016118
Status	Udgivet - 7. apr. 2025

Dokumenter og links

10.1002/14651858.CD016118

https://pmc.ncbi.nlm.nih.gov/articles/PMC11975189/pdf/CD016118.pdf

SDU link

Tjek adgangen til materialet i Syddansk Universitetsbiblioteks søgemaskine

Citationsformater

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AU - Pessano, Sara

AU - Boldor, Maria

AU - Faravelli, Francesca

AU - Fiander, Michelle

AU - Jørgensen, Karsten Juhl

AU - Soll, Roger F.

AU - Bruschettini, Matteo

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AB - 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.

KW - Genetic Diseases, Inborn/diagnosis

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KW - High-Throughput Nucleotide Sequencing/ethics

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KW - Infant, Newborn

KW - Neonatal Screening/methods

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DO - 10.1002/14651858.CD016118

M3 - Journal article

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

Abstract

Dokumenter og links

SDU link

Fingeraftryk

Citationsformater