Preimplantation Genetic Testing within the Public Healthcare System in Slovenia
, , , , , , , , , and | Mar 12, 2024
About this article
Article Category: Original Article
Published Online: Mar 12, 2024
Page range: 5 - 10
DOI: https://doi.org/10.2478/bjmg-2023-0017
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© 2023 M Volk et al., published by Sciendo
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.
List of chromosomal rearrangements.
| 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 |
Data collection 2017–2019.
| 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 |
Data collection 2004–2016.
| 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 |
List of monogenic disorders.
| 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 |