45,XY,der13;14)(q10;q10) | 8 |
45,XX,der(13;14)(q10;q10) | 3 |
Simple reciprocal translocation male/female carrier | 71 |
47,XXY,t(12;22)(q12;q13.3)(5)/46,XY,t(12;22)(q12;q13.3)(45) | 1 |
45,XX,der(15;20)(q10;q10),der(20;21)(p10;q10) | 2 |
46,XX,t(11;18)(q23;q21).ish ins(11;18)(q21;q21.1q21.3)(WCP18+) | 1 |
46,XX.ish t(X;17)(p22.1;p13.3) | 1 |
46,XX.ish t(17;22)(q25.1;q13.33) | 1 |
Couples | 4 | 3 | 40 | 45 | 92 |
Cycles (OR) | 5 | 6 | 49 | 74 | 134 |
ET | 3 | 4 | 29 | 64 | 100 |
Embryos for biopsy | 11 | 16 | 112 | 219 | 358 |
Diagnosis | 10 (91%) | 13 (81%) | 91 (81%) | 182 (83%) | 296 (83%) |
Pregnancy | 2 | 2 | 13 | 26 | 43 |
Miscarriage | 1 | 0 | 1 | 2 | 4 (9%) |
Children | 1 | 2 | 12 | 24 | 39 |
Deliveries | 1 | 2 | 12 | 24 | 39 |
Pregnancy rate / ET (%) | N/A | N/A | 45% | 41% | 43% |
Delivery rate / ET (%) | 33% | 50% | 38% | 36% | 37% |
Cycles with no PGT | 0 | 1 | 11 | 8 | 20 |
Couples | 6 | 10 | 48 | 55 | 119 |
Cycles (OR) | 20 | 27 | 88 | 106 | 241 |
ET | 19 | 30 | 56 | 58 | 163 |
Embryos for biopsy | 87 | 122 | 453 | 364 | 1026 |
Diagnosis | 81(93%) | 109(89%) | 442(97%) | 332 (91%) | 964 (94%) |
Pregnancy | 6 | 5 | 20 | 20 | 51 |
Miscarriage | 0 | 2 | 2 (+2 |
6 | 10 (19.6%) |
Children | 7 | 3 | 19 | 16 | 45 |
1× twins | N/A | 1× twins, 1× triples | 2× twins | 4× twins, 1× triples | |
Deliveries | 6 | 3 | 16 | 14 | 39 |
Pregnancy rate / ET (%) | 32% | 17% | 36% | 34% | 31% |
Delivery rate / ET (%) | 32% | 10% | 29% | 24% | 24% |
Cycles with no PGT | 0 | 0 | 2 | 9 | 11 |
Duchenne muscular dystrophy | 6 |
Huntington Disease | 15 |
Facioscapulohumeral dystrophy | 3 |
Spinal Muscular Atrophy | 5 |
GJB1 X -linked Charcot Marie Tooth | 4 |
Charcot Marie Tooth disease I | 6 |
Von Hippel Lindau syndrome | 4 |
Retinoblastoma | 2 |
Myotonic dystrophy 1 | 10 |
Cystic Fibrosis | 3 |
Sandhoff disease | 2 |
Alport syndrome | 4 |
Haemophilia A | 6 |
IL1RAPL1 intellectual disability | 2 |
Fragile X syndrome | 3 |
Incontinentia pigmenti | 2 |
ARPKD | 2 |
Fabry disease | 2 |
Other |
29 |