Carrier screening is recommended for all couples who are planning a pregnancy or already in early pregnancy. This simple blood or saliva test assesses one or both parents’ genetic make-up to determine whether there is an increased chance of the child inheriting a genetic condition. The results of carrier screening empower parents to make informed decisions about the pregnancy and to prepare themselves appropriately before the baby arrives.

The purpose of genetic carrier screening is to identify whether an individual carries specific gene for an inherited disease that could potentially be passed on to their child. It is possible to be a carrier of a gene for an inherited condition without having the disease yourself. In fact, it is not uncommon for a child with no known family history of such disease to be diagnosed with a genetic condition.

As of 2023, Medicare now covers carrier screening for three common conditions – cystic fibrosis, spinal muscular atrophy, and Fragile X syndrome, meaning that limited carrier screening is bulk billed for Medicare-eligible patients.