Table 1.
Schematic overview of the different types of carrier screening, including examples
Type | Targeted | Expanded |
---|---|---|
Ancestry‐based | Beta‐thalassaemia (Mediterranean region) Tay–Sachs disease (Ashkenazi Jewish population) | Ashkenazi Jewish screening panels |
Universal | Cystic fibrosis (U.S. population) | Broad‐scope screening panels for a general population |