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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
  1. PGT preimplantation genetic testing, FET frozen embryo transfer, CP clinical pregnancy, LB live birth, NA not applicable
  2. aUnaffected embryos, including non-carrier and carrier embryos
  3. bTransferable embryos diagnosed as unaffected and euploid
  4. cOnly two biopsied blastocysts in the first cycle, and a second oocyte pick-up was performed
  5. dSingle blastocyst transfer which developed to monochorionic diamniotic