Table 1 Couples and embryo numbers by inheritance, disease status and type of variant.
From: Genome sequencing of human in vitro fertilisation embryos for pathogenic variation screening
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 |
