Reproductive carrier screening for fragile X

The Royal Australian and New Zealand College of Obstetricians and Gynaecologists (RANZCOG) guidelines and the Royal Australian College of General Practitioners (RACGP) guidelines on Genomics in general practice recommend all women or couples be offered reproductive carrier testing for the 3 most common genetic abnormalities (ie cystic fibrosis, fragile X syndrome and spinal muscular atrophy), or for fragile X syndrome as part of an expanded panel offering hundreds of conditions.

Following appropriate discussion with the woman or couple, GPs can request these tests directly from their pathology provider, or refer to a public or private genetic service.