Genetic carrier testing before and during pregnancy

Every woman should be offered information, either before conception (preferred) or in early pregnancy, about genetic carrier screening for common disorders, according to RANZCOG and RACGP guidelines.

This does not relate to foetal testing during pregnancy for chromosome abnormalities such as Down syndrome, but to maternal and/or paternal testing to determine their carrier status for recessive conditions such as cystic fibrosis, spinal muscular atrophy, and fragile X syndrome.

Patients should be informed about the benefits, limitations, and costs of screening (Medicare and health fund rebates apply in some cases).

More information

• RANZCOG Genetic carrier screening
• RACGP Reproductive carrier screening
• DOHAC Pregnancy birth & baby: Genetic carrier screening
• DOHAC (MBS) Reproductive carrier testing for cystic fibrosis, spinal muscular atrophy and fragile X syndrome

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This blog contains general information only. We recommend you contact your medical defence organisation or insurer when you require specific advice in relation to medico-legal matters.