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BMC Psychol. 2021 Aug 7;9(1):118. doi: 10.1186/s40359-021-00623-5.
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用于新生儿遗传疾病症状前鉴定的下一代测序（NGS）技术。

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

作者信息

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

机构信息

Scientific Direction, Clinical Epidemiology Unit, IRCCS Istituto Giannina Gaslini, Genova, Italy.

Department of Public Health, Experimental and Forensic Medicine, Unit of Biostatistics and Clinical Epidemiology, Medical Statistics and Biometry Postgraduate School, Pavia, Italy.

出版信息

Cochrane Database Syst Rev. 2025 Apr 7;4(4):CD016118. doi: 10.1002/14651858.CD016118.

DOI:10.1002/14651858.CD016118
PMID:40192933
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11975189/
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.

摘要

目标

这是一项Cochrane系统评价（干预性研究）的方案。目标如下：评估与单纯使用传统新生儿筛查相比，采用二代测序（NGS）技术对新生儿进行症状前遗传疾病鉴定的益处和危害。

次要目标

探讨新技术应用中的公平性和伦理问题，为家庭、护理人员及政策制定者的医疗决策提供依据。