Mackenzie's Mission: The Australian Reproductive Carrier Screening Project

In order to take part in the study, couples need to have visited a recruiting HCP who will assess them for eligibility based on the criteria below: INCLUSION CRITERIA * Planning to become pregnant or in early pregnancy (less than 10 weeks gestation at enrolment and less than 11 weeks gestation at sample receipt by the laboratory) * Both members of the couple available to participate in the study and available to provide a sample for testing at the same time. * If the couples are using an egg/sperm donor/s, the donor/s need to be available to provide a DNA sample for testing and consent to having carrier screening. NB: If both members of the couple are known carriers of the same autosomal recessive condition, or the female is a known carrier of an X-linked recessive condition, they will still be eligible to have RGCS through the study, but will only be considered an 'increased-risk' couple for the purposes of this study if they are identified through the study testing to be carriers of pathogenic variants in a different gene. EXCLUSION CRITERIA Participating couples meeting any of the following requirements will be excluded from this study: * Pregnant and greater than 10 weeks gestation at enrolment. * Only one member of the couple agrees to participate in the study. * One or both members of the couple are less than 18 years old. * Both members of the couple are not available to be tested at the same time. * The couple are using an egg/sperm donor/s and the donor/s are n…