Whole-exome sequencing as the first-tier test for patients in neonatal intensive care unit: a Chinese single-center study.

ABSTRACT:

Background

Genetic disorders significantly affect patients in neonatal intensive care units, where establishing a diagnosis can be challenging through routine tests and supplementary examinations. Whole-exome sequencing offers a molecular-based approach for diagnosing genetic disorders. This study aimed to assess the importance of whole-exome sequencing for neonates in intensive care through a retrospective observational study within a Chinese cohort.

Methods

We gathered data from neonatal patients at Tianjin Children's Hospital between January 2018 and April 2021. These patients presented with acute illnesses and were suspected of having genetic disorders, which were investigated using whole-exome sequencing. Our retrospective analysis covered clinical data, genetic finding

SUBMITTER: Zhang R 

PROVIDER: S-EPMC11110365 | biostudies-literature | 2024 May

REPOSITORIES: biostudies-literature