Table 2.
Summary of the studies investigating the proportions of ART-conceived livebirths in imprinting disorders
| IDs | Country | Number of patients | Number of patients with molecular analysis | Non-ART | ART (%) | Genetic causes found in ART-conceived IDs | Interventions of ART performed |
|---|---|---|---|---|---|---|---|
| Sutcliffe, 2006* [18] | UK | ||||||
| Total | 317 | 12a | 295 | 22 | IVF, ICSI | ||
| BWS | 79 | 8 | 68 | 11 (13.9) | epi, 8d; not doing genetic testing, 3 | ||
| PWS | 163 | 2 | 154 | 9 (5.5) | del, 2; not doing genetic testing, 7 | ||
| AS | 75 | 2 | 73 | 2 (2.7) | epi, 1; del, 1 | ||
| Doornbos 2007* [19] | Netherlands | ||||||
| Total | 220 | 11a | 206 | 14 | IVF, ICSI, | ||
| BWS | 71 | 6 | 65 | 6 (8.5) | epi, 6d | COS, IUI | |
| PWS | 86 | 3 | 82 | 4 (4.7) | del, 3; not doing genetic testing, 1 | ||
| AS | 63 | 2 | 59 | 4 (6.3) | del, 2; not doing genetic testing, 2 | ||
| Tenorio 2016* [20] | Spain | ||||||
| BWS | 156 | 156b | 139 | 17 (10.9) | epi, 15d; unknown, 2 | IVF, AI, COS | |
| Mussa, 2017* [21] | Italy | ||||||
| BWS | 38 | 7a | 31 | 7 (18.4) | epi, 3d; UPD, 2; unknown, 2 | IVF, ICSI, IUI | |
| Hattori, 2019* [14] | Japan | ||||||
| Total | 931 | 556 | 888 | 43 | IVF, ICSI | ||
| SRS | 67 | 22c | 59 | 8 (11.9) | epi, 5; not doing genetic testing, 3 | ||
| BWS | 117 | 43 | 110 | 7 (6.0) | epi, 4d; not doing genetic testing, 3 | ||
| PWS | 520 | 366 | 496 | 24 (4.6) | epi, 6; del, 6; UPD, 9; not doing genetic testing, 3 | ||
| AS | 227 | 147 | 223 | 4 (1.8) | del, 4 | ||
| This study** | Japan | ||||||
| Total | 136 | 136b | 114 | 22 | IVF, ICSI, FET | ||
| SRS | 77 | 77 | 65 | 12 (15.6) | epi, 12 | ||
| BWS | 31 | 31 | 23 | 8 (25.8) | epi, 8e | ||
| KOS | 5 | 5 | 5 | 0 | |||
| TS14 | 4 | 4 | 3 | 1 (25.0) | epi, 1 | ||
| PWS | 4 | 4 | 4 | 0 | |||
| AS | 5 | 5 | 5 | 0 | |||
| PHP1B | 8 | 8 | 7 | 1 (12.5) | epi, 1 | ||
| TNDM | 2 | 2 | 2 | 0 | |||
IDs imprinting disorders, ART assisted reproductive technology, BWS Beckwith-Wiedemann syndrome, PWS Prader-Willi syndrome, AS Angelman syndrome, SRS Silver-Russell syndrome, KOS Kagami-Ogata syndrome, TS14 Temple syndrome, PHP1B pseudohypoparathyroidism 1B, TNDM transient neonatal diabetes mellitus, UK United Kingdom, epi epimutation, del deletion, UPD uniparental disomy, IVF in vitro fertilization, ICSI intracytoplasmic sperm injection, COS controlled ovarian stimulation, IUI intrauterine insemination, AI artificial insemination, FET frozen embryo transfer
*Patients with all genetic causes resulting in IDs were included
**Patients with only epimutation-mediated IDs were included
aMolecular analysis was performed in patients with ART-conceived IDs only
bMolecular analysis was performed in all patients
cIncluding 10 patients from our study
dAll patients had hypomethylated KCNQ1OT1:TSS-DMR
ePatients had either hypomethylated KCNQ1OT1:TSS-DMR or hypermethylated H19/IGF2:IG-DMR