NewbornsInSA

The study is approved by the Women’s and Children’s Health Network Human Research Ethics Committee and requires informed opt-in consent for prospective participation. The study is led by SA Pathology, the Women’s and Children’s Hospital, a…

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The study is approved by the Women’s and Children’s Health Network Human Research Ethics Committee and requires informed opt-in consent for prospective participation. The study is led by SA Pathology, the Women’s and Children’s Hospital, and the University of Adelaide. The study aims to assess feasibility and acceptability in a prospectively recruited South Australian newborn cohort. NewbornsInSA is designed to develop, validate, and evaluate a multi-omic newborn screening model that combines metabolomic profiling with genomic newborn screening. The study includes retrospective validation cohorts, a prospective metabolomic cohort, a prospective genomic screening subset, and an unwell or at-risk cohort.