Thinking of having a baby? Read this first... A recent update to The Royal Australian and New Zealand College of Obstetricians and Gynaecologists (RANZCOG) guidelines now recommends every woman planning a pregnancy or in their first trimester should be given information about preconception carrier screening.
This is welcomed and applauded by the Sanfilippo Children’s Foundation because we are passionate about giving families the opportunity to access screening and family planning options that could prevent the inheritance of devastating conditions such as Sanfilippo Syndrome.
Previously, screening was only offered to “high risk” couples, but many serious genetic conditions can occur even without a family history. There is still significant out-of-pocket expense with preconception carrier screening which needs to be addressed to make access more equitable, but it is hoped that the testing will eventually be covered by Medicare.
Read the new RANZCOG guidelines here
Read the SMH article here
Read about the inheritance of Sanfilippo and how to access carrier screening here