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. 2020 Nov 19;38(2):357–364. doi: 10.1007/s10815-020-02009-9

Table 1.

Study embryos

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