NCARDRS Congenital Condition Official Statistics Report, 2022

Trisomy is a condition that results in an extra copy of a chromosome in all or some of an individual’s cells. Down’s syndrome (Trisomy 21), Edwards’ syndrome (Trisomy 18) and Patau’s syndrome (Trisomy 13) are collectively the most common forms of trisomy associated with pregnancies that can progress to full term. To ensure consistency throughout the report and internationally, partial trisomies are also included in the trisomy groups for prevalence reporting.

Figure 1c (Data table 1) shows the birth prevalence per 10,000 total births in 2022 was 30.2 (95% CI 28.8-31.7) - or one in every 331 births- for Down’s syndrome, 8.7 (95% CI 7.9-9.5) - or one in every 1,152 births - for Edwards’ syndrome, and 3.4 (95% CI 3.0-3.9) - or one in every 2,911 births for Patau’s syndrome.

Live birth prevalence per 10,000 live births in 2022 was 12.0 (95% CI 11.1-12.9) - or one in 833 live births - for Down’s syndrome, 0.9 (95% CI 0.7-1.2) - or one in 11,315 - for Edwards’ syndrome and 0.4 (95% CI 0.3-0.6) - or one in 24,044 - for Patau’s syndrome respectively.

Total and live birth prevalence for all three conditions in 2022 were consistent with estimates published for 2021.