Table 1.
Couple | Carrier status | PGT method | Embryo | PGT results (biopsy) | TGS results (biopsied embryo) | Concordance between PGT and TGS |
---|---|---|---|---|---|---|
1 | Paternal and maternal carrier of HBA1/2 SEA deletion | GAP-PCR + NGS | B2 | --SEA/--SEA deletion, 45, XN, −22 |
Homozygous 14-kb HBA deletion 45, XN, −22 |
Concordant |
B3 | --SEA/--SEA deletion, 46, XN |
Homozygous 14-kb HBA deletion 46, XN |
Concordant | |||
2 | Paternal carrier t(1;18)(q42;q12.3) | NGS | L3 |
45, XN, −4 −18q12.3qter +1q42qter |
45, XN, −4 −18q12.3qter +1q42qter |
Concordant |
L4 |
46, XN, +18q12.3qter −1q42qter |
46, XN, +18q12.3qter −1q42qter |
Concordant | |||
L5 |
46, XN, +18q12.3q23 −1q42qter |
46, XN, +18q12.3q23 −1q42qter |
Concordant | |||
L10 | 47, XN, +4 | 47, XN, +4 | Concordant |