Table 1.
List of monogenic disorders.
| Disorder | Number of couples |
|---|---|
| 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 |
* Includes only one couple for each referral: Autosomal recessive deafness IA, Achondroplasia, WWOX encephalopathy, Glycine encephalopathy, Spondyloepiphyseal dysplasia congenita, Marfan syndrome, Neurofibromatosis I, Tuberous sclerosis I, Congenital adrenal hyperplasia, Alagille syndrome, Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome, Emery -Dreifuss Muscular dystrophy, Pachyonychia congenita, Metachromatic leukodystrophy, Fraser syndrome, Myofibrillar myopathy, Hypohydrotic ectodermal dysplasia, Schimke immunoosseous dysplasia, MED12 genopathy, Tavil Andersen syndrome, Norrie disease, Epidermolysis bulosa dystrophica, Adenomatous polyposis coli, MYH7-Hypertrophic cardiomyopathy, CDH1-cancer predisposition, FOXC1-Axenfeld-Rieger syndrome, RYR1 congenital neuromuscular disease.
Table 2.
List of chromosomal rearrangements.
| Translocation | Number of couples |
|---|---|
| 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 |
Table 3.
Data collection 2004–2016.
| Referral | XL disorder (sex selection) | PGT-A | PGT-SR | PGT-M | Total |
|---|---|---|---|---|---|
| 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 |
Table 4.
Data collection 2017–2019.
| Referral | X-linked disorder (sex selection) | PGT-A | PGT-SR | PGT-M | Total |
|---|---|---|---|---|---|
| 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 |