Tests to detect mutations responsible for hereditary diseases are available to couples exposed to risks associated with their family history or origin, or at their choosing (carrier screening).

This approach comes in several options, involving an increasing number of analysed genes:

(i) a minimum of six genes responsible for the most common hereditary diseases (according to the American College of Medical Genetics (ACMG), cystic fibrosis, spinal muscular atrophy, fragile X syndrome, alpha and beta thalassaemia, and sickle-cell anaemia);
(ii) genes conferring an increased risk of recessive diseases in persons of Ashkenazi Jewish origin (according to the ACMG, the screening of four genes is recommended; and
(iii) screening of a wide range of genes, known as expanded carrier screening. This final option should be carefully discussed in terms of improved diagnostic yield and excess information (Mol Genet Genomic Med 2020: 8:e 1053).

Several reproductive options are available if either of the partners carries mutations involving increased risk for their offspring:

i) preimplantation testing (PGT-M) and
ii) classic IPD.

Genesupport - If either of the partners carries mutations