Mackenzie’s Mission is a research project in which couples will be offered screening to identify those with an increased chance of having children with debilitating, and often fatal, genetic conditions. Couples will also be tested for conditions where early treatment can improve a child’s health.
The screening involves a simple mouth swab or blood test. Couples can enrol in the study only through health professionals in Australia involved in the study.
The project will recruit about 100,000 couples considering having a baby or in early pregnancy and could pave the way for population-wide preconception carrier screening.
Congenital heart disease (CHD) is the leading cause of death and hospitalisation in infants, affecting one in 100 births. The potential for a genetic link to the condition is now being explored in a new Australian Genomics study supported by HeartKids.So far advanced genetic testing could potentially identify the cause of conditions in up to 50% of families, helping to improve diagnosis, provide better treatment and management outcomes as well as early diagnosis of CHD. 200 families affected by CHD are urged to participate in the study to help researchers.Visit Heartkids for more information!