Skip to main content

Table 2 Summary of the studies investigating the proportions of ART-conceived livebirths in imprinting disorders

From: Assisted reproductive technology represents a possible risk factor for development of epimutation-mediated imprinting disorders for mothers aged ≥ 30 years

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   
  1. 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
  2. *Patients with all genetic causes resulting in IDs were included
  3. **Patients with only epimutation-mediated IDs were included
  4. aMolecular analysis was performed in patients with ART-conceived IDs only
  5. bMolecular analysis was performed in all patients
  6. cIncluding 10 patients from our study
  7. dAll patients had hypomethylated KCNQ1OT1:TSS-DMR
  8. ePatients had either hypomethylated KCNQ1OT1:TSS-DMR or hypermethylated H19/IGF2:IG-DMR