摘要
Background Newborn screening(NBS)through disease biomarkers has significantly reduced severe outcomes of congenital disorders.Moreover,exploratory newborn genetic screening programs are increasingly being implemented.This consensus,developed by multidisciplinary experts,aims to standardize the combined screening of genes and biomarkers for neonatal diseases in China,balancing ethical,technical,and clinical considerations.Data sources This consensus synthesizes evidence from peer-reviewed literature(PubMed,CNKI,etc.)up to 2024 and integrates clinical experiences from multidisciplinary experts in neonatology,genetics,and laboratory medicine,focusing on disease biomarker-based NBS,newborn genetic screening,and the clinical utility of combined screening.Results The consensus defines principles for combined screening:(1)disease/gene selection:154 disease-causing genes covering 67 inherited metabolic disorders(e.g.,amino acid metabolism disorders,organic acid metabolism disorders),prioritized by treatability,onset age(<5 years),and cost-effectiveness;(2)methodology:integrating dried blood spot biomarker analysis with next-generation sequencing-based targeted capture(coverage>300×),validated by MLPA/Sanger and longrange sequencing for complex variants(e.g.,CYP21A2,SLC25A13);and(3)operational workflow:standardized workflows for informed consent,sample collection/delivery,and result interpretation,with dual reporting of marker and genetic findings within 15 days.Positive cases require family verification and/or other genetic sequencing techniques.Conclusions This consensus establishes a practical framework for integrating marker and genetic screening,aiming to improve diagnostic accuracy and achieve rapid and effective interventions,thereby saving lives and reducing the occurrence of severe complications.Implementation requires interdisciplinary collaboration and ongoing quality control to maximize clinical utility.
基金
supported by grants from the"Pioneer"and"Leading Goose"R&D Program of Zhejiang Province(No.2024C03152 to H.F.).
