The impact of assisted reproductive technologies on the genome and epigenome of the newborn

Journal of Neonatal-Perinatal Medicine

Volumn 6, Issue 2, 2013, Pages 101-108

  Kochanski, A ^a   Merritt, T A ^b,c   Gadzinowski, J ^a   Jopek, A ^a  

^a POLISH ACADEMY OF SCIENCES   (Poland)

^b LOMA LINDA UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c POZNAN UNIVERSITY OF MEDICAL SCIENCES   (Poland)

Author keywords

birth defects; imprinting disorders; In vitro fertilization; infertility; intracytoplasmic speinjection; methylation defects

Indexed keywords

DNA; REPETITIVE DNA;

BIRTH DEFECT; CHROMOSOME ABERRATION; DEACYLATION; DNA METHYLATION; EPIGENETICS; FERTILIZATION IN VITRO; GENE MUTATION; GENOME IMPRINTING; HUMAN; HUMAN GENOME; INFERTILITY; INFERTILITY THERAPY; INTRACYTOPLASMIC SPERM INJECTION; NEWBORN; PRIORITY JOURNAL; REVIEW; RISK FACTOR; X CHROMOSOME; CONGENITAL DISORDER; FEMALE; GENETIC EPIGENESIS; GENETICS; MALE; MUTATION; PREGNANCY;

CHROMOSOME ABERRATIONS; CONGENITAL ABNORMALITIES; DNA METHYLATION; EPIGENESIS, GENETIC; FEMALE; GENOME, HUMAN; GENOMIC IMPRINTING; HUMANS; INFANT, NEWBORN; MALE; MUTATION; PREGNANCY; REPRODUCTIVE TECHNIQUES, ASSISTED;

EID: 84882425404     PISSN: 19345798     EISSN: 18784429     Source Type: Journal    
DOI: 10.3233/NPM-1366812     Document Type: Review

References (55)

1. Centers for Disease Control and Prevention: American Society for Reproductive Medicine, Society for Assisted Reproductive Technology. 2007 Assisted reproductive technology success rates: National summary and fertility clinic reports, Atlanta, GA, U.S. Department of Health and Human Services, 2009.
2. Hansen M, Kurinezuk J, Bower C,Wess S. The risk of major birth defects after intracytoplasmic sperm injection and in vitro fertilization. N Engl J Med 2002;346(10):725-30.
3. Maher ER, Brueton LA, Bowdin SC, et al. Beckwith-Wiedemann syndrome and assisted reproduction technology (ART). J Med Genet 2003;40:62-4.
4. 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.
5. Janvier A, Spelke B, Barrington KJ. The epidemic of multiple gestations and neonatal intensive unit use: The cost of irresponsibility. J Pediatr 2011;159(3):409-14.
6. Katari S, Turan N, Bibikova M, Erinle O, Challan R, Foster M. DNA methylation and gene expression differences in children conceived in vitro or in vivo. Hum Mol Genet 2009;18(2):3769-78.
7. Shi X, Ni Y, Zheng H, et al. Abnormal methylation patterns at the IGF2/H19 imprinting control region in phenotypically normal babies conceived by assisted reproductive technologies. Eur J Obstet Gynecol Reprod Biol 2011;158:52-5.
8. Turan N, Katari S, Gerson LF, Chalian R, Foster MW, Gaughan JP. Inter-and intra-individual variation in allelespecific DNA methylation and gene expression in children conceived using assisted reproductive technology. PLoS Genetics 2010;6:e1001-3.
9. Puumala SE, Nelson HH, Ross JA, Nguyen RHN, Damario M, Spector LG. Similar DNA methylation levels in specific imprinting control regions in children conceived with and without assisted reproductive technology: A cross-sectional study. BMC Pediatrics 2012;12:33-43.
10. Jegou B. Epigenetics and Human Reproduction, edited by Rousseaux A and Knochbin S; New York, Springer; 2010.
11. Baccarelli A, Bollati V. Epigenetics and environmental chemicals. Curr Opin Pediatr 2009;21(2):243-51.
12. Kwinecka-Dmitriew B, Zakrzewska K, Latos-Bielenska A, Skrzypczak J. Frequency of chromosomal aberrations in material from abortions. Ginekol Pol 2010;81(12):896-901.
13. Dutta UR, Rajitha R, Pidugn VK, Dalal AB. Cytogenetic abnormalities in 1162 couples with recurrent miscarriages in Southern region of India-report and review. J Assist Reprod Genet 2011;28:145-9.
14. Dohle GR, Halley DJJ, Van Hemal JO, et al. Genetic risk factors in infertile males with severe oligozoopermia and azoospermia. Hum Reprod 2002;17(1):13-7.
15. Bonduelle M. Van Assche E, Joris H, Keymolen K, Devroey P, van Steirtegham A, Liebaers I. Prenatal testing in ICSI pregnancies: Incidence of chromosomal anomalies in 1586 karyotypes and relation to sperm parameters. Hum Reprod 2002;17(1):2600-14.
16. Mehta G, Maceh M, Mehta A. Cystic fibrosis across Europe EuroCareCF analysis of demographic data from 35 countries. J Cyst Fibros 2010;9(Suppl):S5-21.
17. Radpour R, Gourabi H, Dizaj AV, Holzgrave W, Zhoug XY. Genetic investigations of CFTR mutationin congenital absence of vas deferens, uterus and vagina as cause of infertility. J Androl 2008;29(5):506-13.
18. Ariel M, Cedar H, McCarrey J. Developmental changes in methylation of permatogenesis-specific genes include reprogramming in the epididmymis. Nat Genet 1994:71(1): 59-63.
19. Varghese AC, Arsalan A, Agarwal A. Intracytoplasmic sperm injection: Current perspectives and future development. Arch Med Sci 2009;56(1A):S109-14.
20. Bourc'his D, Bestor TH. Meiotic catastrophe and retrotransposon reactivation in male germ cells lacking Dnmt3L. Nature 2004;431(7004):96-9.
21. Lucifero D, LaSalle S, Bourc'his D, Martel J. Bestor TA, Trasler JM. Coordinate regulation of DNA methyltransferase expression during oogenesis. BMC Dev Biol 2007;36:7-15.
22. Patsalis P, Sismani C, Quintana-Murci L, Taleb-Bekkouche F, Krausz C, McEleavey K. Effects of transmission of Y chromosome AZFcdelections. Lancet 2002;360:1222-4.
23. Barros SP, Offenbacher S. Epigenetics: Connecting environment and genotype to phenotype and disease. J Dent 2009;88(5):400-8.
24. Eggermann T. Russell-Silver syndrome. Am J Med Genet C Semin Med Genet 2010;154C-364.
25. Kargami M, Nagai T, Fukami M, Yamazawaa K, Ogata T. Silver-Russell syndrome in a girl born after in vitro fertilization: Partial hypermethylation at the differentially methylated region of PEG1/MEST. J Assist Reprod Genet 2003;72:1338-41.
26. Giequel C, Gaston V. Mandelbaum J, Siffro JP, Flahault A, LeBouc Y. In vitro fertilization may increase the risk of Beckwith-Weidemann syndrome related to the abnormal imprinting of the KCNQ10T gene. Am J Hum Genet 2003;72:1338-41.
27. Kong A, Frigge ML, Masson G, et al. Rate of de novo mutations and the importance of father's age to disease risk. Nature 2012;488:471-75.
28. Wang J, Jan HC, Behr, B, Quake SR. Genome-wide singlecell analysis of recombination activity and de novo mutation rate in human sperm. Cell 2012;150:402-12.
29. Rauch A, Wieczorek D, Graf E, et al. Range of genetic mutations associated with severe non-syndromic intellectual disability: An exome sequencing study. Lancet 2012;360(9854):1274-82.
30. deLigt J, Willemsen MH, von Bon, B, Kleefstra, T, Yntema HG, Kroes T, et al. Diagnostic exome sequencing in persons with severe intellectual disability. N Engl J Med 2012;367(20)1921-9.
31. Halliday J, Oke K, Breheny S, Algar E, JAmor D. Beckwith-Wiedemann syndrome an IVF: A case control study. Am J Hum Genet 2004;75;526-8.
32. Odom LN, Segars J. Imprinting disorders and assisted reproductive technologies. Curr Opin Endocrinol Diabetes Obes 2010;17(6)517-22.
33. Ludwig M, Katalinic A, Gross S, Sutcliffe A, Varon R, Horsthemka B. Increased prevalence of imprinting defects in patients with Angelman syndrome born to subfertile couples. J Med Genet 2005;42:289-91.
34. Maher ER, Afnan M, Barratt CL. Epigenetic risks related to assisted reproductive technologies: Epigenetics, imprinting, ART and icebergs? Hum Reprod 2003;18(12)2508-10.
35. Sakka SD, Loutradis D, Kanaka-Gantenbein C. Margeli A, Papastamataki M, Papassotiriou I, Chrousos GP. Absence of insulin resistance and low-grade inflammation despite early metabolic syndrome manifestations in children born after in vitro fertilization. Fertil Steril 2010;94(5):1693-9.
36. Ceelen M, van Weissenbruch MM, Vermeiden JP, van Leeuwen FE, Delemarre-van de Wall HA. Cardiometabolic differences in children born after in vitro fertilization: Followup study. J Clin Endocrinol Metab 2008;93(5):1682-8
37. Zechner U, Pliushch G, Schneider D, et al. Quantitative methylation analysis of developmentally important genes in human pregnancy losses after ART and spontaneous conception. Mol Hum Reprod 2010;16:704-13.
38. Oliver VF, Miles HL, Cutfield WS, Hofman PL, Ludgate JL, Morison IM. Defects in imprinting and genome-wide DNA methylation are not common in the in vitro fertilization population. Fertil Steril 2012;97:147-53.
39. Hansen M, Bower C, Milne E, deKlert N, Jurinczuk JJ. Assisted reproductive technologies and the risk of birth defects-a systematic review. Hum Reprod. 2005;20(2):328-38.
40. Van Steirteghem A. Outcome of assisted reproductive technology. N Engl J Med 1998;338(3):194-5.
41. Green NS. Risks of birth defects and other adverse outcomes associated with assisted reproductive technology. Pediatrics 2004;11(1):256-9.
42. Rimm AA, Katamyama AC, Diaz M, Katayama KP. A metaanalysis of controlled studies comparing major malformations in IVF and ICSI infants with naturally conceived children. J Assist Reprod Genetics 2004;21(12):437-43.
43. Wen J, Jiang, J, Ding, et al. Birth defects in children conceived by in vitro fertilization and intracytoplasmic sperm injection: A meta-analysis. Fertil Steril 2012;97:1331-7.
44. Davies, MJ, Moore VM, Willson KJ, et al. Reproductive technologies and the risk of birth defects. N Engl J Med 2012;66(19):1803-13.
45. Zhu JL Basso O, Obel C, Bille C, Olsen J. Infertility, infertility treatment, and congenital malformations: Danish national birth cohort. BMJ 2006;333:687-92.
46. Hansen M, Kurinczuk JJ, deKlerk N, Burton P, Bower C. Assisted reproductive technology and major birth defects in Western Australia. Obstet Gynecol 2012;120(4):852-63.
47. Stern JE, Cedars MI, Jain T, et al. Assisted reproductive technology practice patterns and the impact of embryo transfer guidelines in the United States. Fertil Steril 2007;88(2):275-82.
48. Martin J, Hamilton BE, Ventura SJ, Osterman MJ, Kirmeyer S, Mathews TJ. Births: Final data for 2009. National vital statistics reports: From the Centers for Disease Control and Prevention. National Center for Health Statistics Vital Statistics System. 2011;60(1):1-70.
49. Hamilton B, Martin JA, Ventura SJ. Births: Preliminary data for 2010. National Vital Statistics Reports. 2011;60(2):25.
50. Willson CL, Fisher JR, Hammarberg K, Amor DJ, Halliday JL. Looking downstream: A review of the literature on physical and psychosocial health outcomes in adolescents and young adults who were conceived by ART. Hum Reprod 2011;26(5):1209-19.
51. Ceelen M. Growth during infancy and early childhood in relations to blood pressure and body fat measure at age 8-18 of IVF children and spontaneously conceived controls born to subfertile parents. Hum Reprod 2009;24:2788-8
52. Ceelen M, vanWeissenbruch M,Vermeiden J, van Leeuwen F, Delemarreo van deWaal H. Pubertal development in children and adolescents born after IVF and spontaneous conception. Hum Reprod 2008;23:2791-8.
53. Gluckman PD, Hanson MA. The developmental origins of the metabolic syndrome. Trends Endocrinol Metab 2004;15(4):183-7.
54. K?alĺen B, Finnstro?om O, Nygren K-G, Otterblad P. Asthma in Swedish children conceived by in vitro fertilization. Arch Dis Child 2013;98:92-6.
55. Davies MJ. Infertility treatment at the edge: Discovery and risk converge at the limits of knowledge. Arch Dis Child 2013;98:89-90.