Genomic Sequencing as a First-Tier Screening Test and Outcomes of Newborn Screening

202377 citationsJournal Articlegold Open Access

Authors

Ting Chen · XinHua Hospital

Chunna Fan · BGI Group (China)

Yonglan Huang · Guangzhou Medical University

Jizhen Feng

Yinhong Zhang · Kunming University of Science and Technology

Jingkun Miao · Chongqing Medical University

Wang Xiao-hua · Inner Mongolia Maternal and Child Health

Abstract

In this cohort study, the use of gene panel sequencing in a general newborn population as a first-tier screening test improved the detection capability of traditional screening, providing an evidence-based suggestion that it could be considered as a crucial method for first-tier screening.

Topics & Keywords

Genomics and Rare Diseases Prenatal Screening and Diagnostics Genomic variations and chromosomal abnormalities

UN Sustainable Development Goals

Good health and well-being

Publication Details

Published in: JAMA Network Open

Volume 6, Issue 9, pp. e2331162-e2331162

DOI: 10.1001/jamanetworkopen.2023.31162

Field-Weighted Citation Impact: 24.77