Cochrane Evidence Synthesis and Methods ►

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

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.

This is a protocol.

Published:

7 April 2025

Authors:

Pessano S, Boldor M, Faravelli F, Fiander M, Jørgensen KJ, Soll RF, Bruschettini M

See the full Review on

the Cochrane Library

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Citation
Pessano S, Boldor M, Faravelli F, Fiander M, Jørgensen KJ, Soll RF, Bruschettini M. Next-generation sequencing (NGS) techniques for pre-symptomatic identification of genetic diseases in newborns (Protocol). Cochrane Database of Systematic Reviews 2025, Issue 4. Art. No.: CD016118. DOI: 10.1002/14651858.CD016118.