Newborn Screening for High-Risk Congenital Heart Disease by Dried Blood Spot Biomarker Analysis.

ABSTRACT:

Importance

Congenital heart disease (CHD) is the most common human organ malformation, affecting approximately 1 of 125 newborns globally.

Objectives

Assessing the performance of 2 diagnostic tests using minimal amounts of dried blood spots (DBS) to identify high-risk CHD compared with controls in a Swedish cohort of neonates.

Design, setting, and participants

This diagnostic study took place in Sweden between 2019 and 2023 and enrolled full-term babies born between 2005 and 2023. All cases were identified through centralized pediatric cardiothoracic surgical services in Lund and Gothenburg, Sweden. Controls were followed up for 1 year to ensure no late presentations of high-risk CHD occurred. Cases were verified through surgical records and echocardiography.

Expos

SUBMITTER: Clausen H 

PROVIDER: S-EPMC11197454 | biostudies-literature | 2024 Jun

REPOSITORIES: biostudies-literature