Prospective Recruitment

Prospective enrolment runs from May 2024 to September 2026. Families can opt in during pregnancy or up to 14 days after birth. General enrolment requires an adult enrolling parent, an antenatal or newborn aged 14 days or younger, birth in South Australia, routine screening opt-in, and returned study consent forms. Eligibility for genomic screening requires a clinical abnormality or risk factor, an outlier metabolomic profile, a positive standard newborn screening result, or first-tier genomic selection. During the first phase, all enrolled newborns will be offered first-tier genomic newborn screening while the metabolic screening algorithm is being optimised.