Article

Newborn Genomic Screening Detects Chromosomal Aneuploidies

2024-09-26

Abstract excerpt

<title>Abstract</title> <p>The application of next-generation sequencing (NGS) technology is increasingly used in newborn screening (NBS) to detect monogenic disorders. However, its capability to identify chromosomal aneuploidies and its potential clinical value have not been fully explored. This study investigates the feasibility of using an NGS panel for aneuploidy screening and examines the incidence of aneupl...

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Literature Corpus work: 5757838b-15a0-512a-9c30-8b918e943f53
DOI: 10.21203/rs.3.rs-4880901/v1

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