References
Balasch J. Investigation of the infertile couple: investigation of the infertile couple in the era of assisted reproductive technology: a time for reappraisal. Hum Reprod. 2000;15:2251–7.
Cox GF, Burger J, Lip V, Mau UA, Sperling K, Wu BL, et al. Intracytoplasmic sperm injection may increase the risk of imprinting defects. Am J Hum Genet. 2002;71:162–4.
DeBaun MR, Niemitz EL, Feinberg AP. Association of in vitro fertilization with Beckwith-Wiedemann syndrome and epigenetic alteration of LIT1 and H19. Am J Hum Genet. 2003;72:156–60.
Maher ER, Brueton LA, Bowdin SC, Luharia A, Cooper W, Cole TR, et al. Beckwith-Wiedemann syndrome and assisted reproductive technology (ART). J Med Genet. 2003;40:62–4.
Gicquel C, Gaston V, Mandelbaum J, Siffroi JP, Flahault A, le Bouc Y. In vitro fertilization may increase the risk of Beckwith-Weidemann syndrome related to the abnormal imprinting of the KCNQ1OT gene. Am J Hum Genet. 2003;72:1338–41.
Chang AS, Moley KH, Wangler M, Feinberg AP, DeBaun MR. Association between Beckwith-Wiedemann syndrome and assisted reproductive technology: a case series of 19 patients. Fertil Steril. 2005;83:349–54.
Sutcliffe AG, Peters CJ, Bowdin S, Temple K, Reardon W, Wilson L, et al. Assisted reproductive therapies and imprinting disorders—a preliminary British survey. Hum Reprod. 2006;21:1009–11.
Svensson J, Bjornstahl A, Ivarsson SA. Increased risk of Silver-Russell syndrome after in vitro fertilization? Correspondence section. Acta Paediatr. 2005;94:1163–5.
Lidegaard O, Pinborg A, Andersen AN. Imprinting diseases and IVF: Danish National IVF cohort study. Hum Reprod. 2005;20:950–4.
Halliday J, Oke K, Breheny S, Algar E, J. Amor D. Beckwith-Wiedemann syndrome and IVF: a case-control study. Am J Hum Genet. 2004;75:526–8.
Källén B, Finnström O, Lindam A, Nilsson E, Nygren KG, Otterblad PO. Congenital malformations in infants born after in vitro fertilization in Sweden. Birth Defects Res A Clin Mol Teratol. 2010;88:137–43.
Hiura H, Okae H, Chiba H, Miyauchi N, Sato F, Sato A, et al. Imprinting methylation errors in ART. Reprod Med Biol. 2014;13:193–202.
Lazaraviciute G, Kauser M, Bhattacharya S, Haggarty P, Bhattacharya S. A systematic review and meta-analysis of DNA methylation and imprinting disorders in children conceived by IVF/ICSI compared with children conceived spontaneously. Hum Reprod Update. 2014;20:840–52.
Seggers J, de Walle HE, Bergman JE, Groen H, Hadders-Algra M, Bos ME, et al. Congenital anomalies in offspring of subfertile couples: a registry-based study in the northern Netherlands. Fertil Steril. 2015;103:1001–10.
Glenn CC, Porter KA, Jong MT, Nicholls RD, Driscoll DJ. Functional imprinting and epigenetic modification of the human SNRPN gene. Hum Mol Genet. 1993;12:2001–5.
Kubota T, Das S, Christian SL, Baylin SB, Herman JG, Ledbetter DH. Methylation-specific PCR simplifies imprinting analysis. Nat Genet. 1997;16:16–7.
Bliek J, Maas SM, Ruijter JM, Hennekam RC, Alders M, Westerveld A et al. Increased tumour risk for BWS patients correlates with aberrant H19 and not KCNQ1OT1 methylation: occurrence of KCNQ1OT1 hypomethylation in familial cases of BWS. Eur J Hum Genet. 2008;16:328–34.
Weksberg R, Shuman C, Caluseriu O, Smith AC, Fei YL, Nishikawa J, et al. Discordant KCNQ1OT1 imprinting in sets of monozygotic twins discordant for Beckwith-Wiedemann syndrome. Hum Mol Genet. 2002;11:1317–25.
Marchesi DE, Qiao J, Feng HL. Embryo manipulation and imprinting. Semin Reprod Med. 2012;30:323–34.
Vermeiden JP, Bernardus RE. Are imprinting disorders more prevalent after human in vitro fertilization or intracytoplasmic sperm injection? Fertil Steril. 2013;99(3):642–51.
Acknowledgments
Submitting labs include the following: Aurora Women’s Pavilion Perinatal Center, Baystate Medical Center Genetics Lab, Benefis Health Care East, Brigham & Women’s Hospital, Carnegie Hill Imaging for Women, Carolinas Medical Center Parke Lab, Cedars-Sinai Medical Center, Center for Maternal and Fetal Medicine, Colorado Genetics Laboratory, Columbia University Medical Center, CombiMatrix Diagnostics, Community Medical Center, CytogenX, Duke University Medical Center, Fetal Diagnostic Institute, GeneCare, Genetics & IVF Institute, Integrated Genetics-Multiple sites, Johns Hopkins/Prenatal Diagnosis Kaiser Permanente Los Angeles, Kaiser Permanente Oakland, Kaiser Permanente of CO, Lab Corp of America, Lehigh Valley Health Network, Maimonides Medical Center, Marshfield Clinic, Mass. General Hospital, Michigan State Cytogenetics Lab, Mount Sinai School of Medicine, New York-Presbyterian Hospital, Newton-Wellesley Hospital, NY University Medical Center, Obstetrix Group of Colorado, Oregon Health & Science University, Palo Verde Laboratory, Permanente Group Genetics, Prenatal Diagnosis, Prenatal Diagnosis Pennsylvania Hospital, Prenatal Genetic Counseling, Presbyterian St. Lukes, Quest Diagnostics Nichols Inst., Reproductive Genetics Institute, Rocky Mountain Perinatal Associates, Southern CA Permanente Medical, St. Joseph’s Medical Center, Stanford Hospital and Clinics, Stony Brook Hospital, Tacoma General Hospital Lab, Tricore Reference Laboratories, UC Davis Medical Center, UCLA Medical Center Clinical Labs CHS, UCSF, University of Iowa Hospitals and Clinics, University of Utah, Wilford Hall Medical Center, and Yale School of Medicine. We appreciate referrals from the above and know the list is not complete.
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Johnson, J.P., Schoof, J., Beischel, L. et al. Detection of a case of Angelman syndrome caused by an imprinting error in 949 pregnancies analyzed for AS following IVF. J Assist Reprod Genet 35, 981–984 (2018). https://doi.org/10.1007/s10815-018-1161-1
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DOI: https://doi.org/10.1007/s10815-018-1161-1