Table 1 The preimplantation genetic testing outcomes of the 36 families
From: Using affected embryos to establish linkage phase in preimplantation genetic testing for thalassemia
Family | Cycles | Embryo state | PGT results | Pregnancy results | Genetic testing | ||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PGT | FET | Oocyte | MII | 2 PM | Cleavage | Blastocyst | Biopsy blastocyst | Unaffecteda | Transferrableb | CP | LB | PGT-M | Amniocentesis | After born | |
1 | 1 | 1 | 26 | 25 | 18 | 17 | 12 | 9 | 6 | 3 | 1 | 1 | Wild type | Wild type | Wild type |
2 | 1 | 1 | 22 | 17 | 15 | 15 | 8 | 8 | 6 | 4 | 1 | 1 | Heterozygote | Heterozygote | Heterozygote |
3 | 1 | 1 | 13 | 12 | 10 | 10 | 6 | 3 | 2 | 1 | 1 | 1 | Wild type | NA | Wild type |
4 | 1 | 1 | 11 | 10 | 9 | 9 | 7 | 5 | 2 | 2 | 1 | 1 | Wild type | NA | Wild type |
5 | 1 | 1 | 12 | 12 | 11 | 11 | 11 | 9 | 6 | 3 | 1 | 1 | Heterozygote | Heterozygote | Heterozygote |
6 | 1 | 2 | 15 | 14 | 12 | 11 | 10 | 7 | 6 | 2 | 1 | 1 | Heterozygote | Heterozygote | Heterozygote |
7 | 1 | 1 | 24 | 20 | 15 | 14 | 8 | 4 | 4 | 1 | 1 | 1 | Heterozygote | Heterozygote | Heterozygote |
8c | 2 | 2 | 44 | 31 | 21 | 21 | 15 | 8 | 6 | 4 | 1 | 1 | Heterozygote | NA | Heterozygote |
9 | 1 | 2 | 35 | 27 | 21 | 21 | 16 | 6 | 6 | 6 | 1 | 0 | Wild type | Miscarriage | NA |
10 | 1 | 1 | 28 | 16 | 11 | 11 | 7 | 4 | 1 | 1 | 1 | 0 | Wild type | Miscarriage | NA |
11 | 1 | 1 | 15 | 11 | 10 | 10 | 6 | 5 | 3 | 2 | 1 | 1 | Wild type | Wild type | NA |
12 | 1 | 3 | 21 | 16 | 13 | 13 | 7 | 4 | 4 | 3 | 1 | 1 | Heterozygote | NA | Heterozygote |
13 | 1 | 2 | 26 | 20 | 16 | 16 | 13 | 9 | 7 | 5 | 1 | 1 | Wild type | Wild type | NA |
14 | 1 | 2 | 7 | 5 | 4 | 4 | 3 | 3 | 1 | 1 | 0 | 0 | Heterozygote | NA | NA |
15d | 2 | 1 | 48 | 36 | 29 | 29 | 23 | 11 | 7 | 2 | 1 | 2 | Wild type | NA | Wild type |
16 | 1 | 1 | 19 | 12 | 9 | 9 | 7 | 4 | 3 | 2 | 1 | 1 | Heterozygote | Heterozygote | NA |
17 | 1 | 0 | 6 | 4 | 3 | 3 | 3 | 2 | 0 | 0 | 0 | 0 | NA | NA | NA |
18 | 1 | 1 | 19 | 10 | 4 | 4 | 4 | 3 | 2 | 2 | 1 | 1 | Heterozygote | Heterozygote | NA |
19 | 1 | 3 | 40 | 33 | 27 | 27 | 24 | 15 | 11 | 11 | 1 | 1 | Heterozygote | NA | Heterozygote |
20 | 1 | 2 | 25 | 21 | 13 | 12 | 10 | 4 | 4 | 3 | 1 | 1 | Heterozygote | NA | Heterozygote |
21 | 1 | 1 | 19 | 14 | 13 | 13 | 9 | 8 | 8 | 4 | 1 | 1 | Wild type | Wild type | NA |
22 | 1 | 1 | 19 | 13 | 10 | 10 | 8 | 5 | 5 | 3 | 1 | 1 | Heterozygote | Heterozygote | NA |
23 | 1 | 1 | 29 | 27 | 25 | 25 | 19 | 6 | 4 | 4 | 1 | 0 | Heterozygote | NA | NA |
24 | 1 | 1 | 16 | 15 | 15 | 14 | 10 | 7 | 4 | 4 | 1 | 1 | Heterozygote | Heterozygote | NA |
25 | 1 | 1 | 19 | 19 | 19 | 18 | 8 | 5 | 3 | 2 | 1 | 0 | Wild type | Miscarriage | NA |
26 | 1 | 2 | 8 | 7 | 4 | 4 | 4 | 4 | 4 | 4 | 1 | 0 | Wild type | Miscarriage | NA |
27 | 1 | 2 | 11 | 9 | 8 | 8 | 5 | 6 | 5 | 3 | 1 | 0 | Wild type | Miscarriage | NA |
28 | 1 | 1 | 11 | 11 | 7 | 7 | 3 | 3 | 2 | 1 | 0 | 0 | Wild type | NA | NA |
29 | 1 | 2 | 17 | 13 | 8 | 8 | 8 | 5 | 3 | 3 | 0 | 0 | Wild type | NA | NA |
30 | 2 | 4 | 47 | 40 | 33 | 33 | 16 | 10 | 7 | 6 | 2 | 0 | Wild type | Miscarriage | NA |
31c | 2 | 3 | 27 | 26 | 14 | 14 | 8 | 7 | 6 | 5 | 1 | 1 | Heterozygote | Heterozygote | Heterozygote |
32 | 1 | 2 | 21 | 15 | 13 | 13 | 11 | 6 | 5 | 5 | 1 | 1 | Heterozygote | Heterozygote | Heterozygote |
33 | 1 | 0 | 15 | 14 | 12 | 12 | 3 | 3 | 1 | 0 | 0 | 0 | NA | NA | NA |
34 | 1 | 1 | 12 | 11 | 11 | 11 | 11 | 9 | 7 | 7 | 1 | 1 | Wild type | NA | Wild type |
35c | 2 | 1 | 28 | 28 | 20 | 20 | 9 | 4 | 4 | 1 | 1 | 0 | Heterozygote | Heterozygote | NA |
36 | 1 | 1 | 22 | 17 | 16 | 15 | 8 | 6 | 5 | 2 | 1 | 0 | Heterozygote | Heterozygote | NA |