Table 1 Glossary of terms

Pre-conception carrier screening

Allows determining whether a couple is at risk of conceiving a child with a genetic disorder

Pre-implantation diagnosis

Is the genetic profiling of embryos prior to implantation in case of In Vitro Fertilization (IVF) procedures

Prenatal screening

Takes place at the early stages of pregnancy and aims to detect whether a foetus is affected by a list of conditions

Newborn screening

Takes place shortly after birth and aims to detect if an infant is affected by a list of conditions