Table 1.
Couples and embryo numbers by inheritance, disease status and type of variant.
| PGT couple | PGT gene; disease (n = 10) | Inheritance | Embryo status (n = 11) | Variant |
|---|---|---|---|---|
| A | PTPN11; Noonan syndrome 1 | Autosomal Dominant | 1 x affected | SNP |
| B | GLA; Fabry disease | X-Linked recessive | 1 x affected | SNP |
| C | BRCA2; multiple neoplasms | Autosomal Dominant |
1 x affected, 1 x unaffected |
Indel |
| D | CFTR; cystic fibrosis | Autosomal Recessive |
1 x affected 1 x carrier 1 x unaffected |
SNP |
| E | KRT10; epidermolytic hyperkeratosis | Autosomal Dominant |
1 x affected 3 x unaffected |
SNP |