You can choose to have this screening test before having children if you have a family history of genetic disorders, such as thalassaemia or cystic fibrosis.

You and your partner may also be part of an ethnic group with an increased risk of a specific genetic disorder, or a close family relationship may exist between partners (e.g. first cousins).

This test makes it possible to screen for a wide range of disorders and to determine if you and your partner are carriers for the same diseases.

Various different options are available: it is possible only to screen for the most common diseases, such as cystic fibrosis, alpha and beta thalassaemia, fragile X syndrome and spinal muscular atrophy, or to extend screening of the two partners to include an extended gene panel (30 to 400 genes) and to rarer diseases.

If the partners are not carriers of mutations in the same gene responsible for disease, the risk is eliminated. If mutations have been detected, screening options before or during pregnancy will be possible: (pre-implantation diagnosis (PGT-M) or invasive prenatal diagnosis (IPD)

Genesupport - Carrier screening