Fig. 2: Comparison between the birth parents of the BabyScreen+ cohort and the age- and sex-matched population of Victoria, Australia.

a,b, Comparison between the study cohort and the Victorian perinatal population in 2022 in relation to age (a) and parity (b), sourced from the Australian Institute of Health and Welfare’s National Perinatal Data Collection. c–f, Comparisons between the BabyScreen+ cohort and the age- and sex-matched population of Victoria, Australia, based on Australian Census data in relation to geographic location (c), highest level of educational attainment (d), area of ancestral origin (e) and Index of Relative Socioeconomic Advantage and Disadvantage (f). Geographic location (Remoteness Area) (c) and Index of Relative Socioeconomic Advantage and Disadvantage (f) are based on the classifications used by the Australian Bureau of Statistics. These variables are from a level 2 statistical area (average population of 10,000 people). Participants were able to select more than one response when reporting their ancestry. Ancestry data (e) are presented as a proportion of the total responses. The top five ancestries from the BabyScreen+ data are presented with the addition of Aboriginal and Torres Strait Islander ancestry. Percentages are rounded to the nearest whole number and totals may not equal 100. The demographic variables were compared between BabyScreen+ participants whose newborns had genomic newborn screening (n = 987) and the relevant Victorian population datasets using chi-square tests. Significant differences were observed for age (χ² = 150.80, P < 0.001), parity (χ² = 69.04, P < 0.001), geographic location (χ² = 72.46, P < 0.001), highest level of educational attainment (χ² = 901.36, P < 0.001) and Index of Relative Socioeconomic Advantage and Disadvantage (χ² = 37.69, P < 0.001). ^aThe BabyScreen+ demographic survey indicated that Oceanic ancestry refers to people from the Pacific Islands or Micronesia. The 2021 Australian Census did not provide such guidance and as such it is likely that many of the responses indicating Oceanic ancestry refer to respondents of European ancestry born in Australia. Due to the discrepancy in how this variable is ascertained, a chi-square test was not run for this variable.