Genetics and assisted reproduction technology

Acta Obstetricia et Gynecologica Scandinavica

Volumn 84, Issue 5, 2005, Pages 463-473

  Aittomäki, Kristiina ^a   Bergh, Christina ^b   Hazekamp, Johan ^c   Nygren, Karl Gösta ^d   Selbing, Anders ^e   Söderström Anttila, Viveca ^f   Wennerholm, Ulla Britt ^b  

^a HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

^b SAHLGRENSKA UNIVERSITY HOSPITAL   (Sweden)

^c Volvat Medical Center   (Norway)

^d Fertility Clinic   (Sweden)

^e LINKÖPING UNIVERSITY HOSPITAL   (Sweden)

^f Infertility Clinic   (Finland)

Author keywords

Genetics; ICSI; Infertility; IVF; PGD

Indexed keywords

BLASTOMERE; CHROMOSOME ABERRATION; CHROMOSOME DELETION; CHROMOSOME REARRANGEMENT; CONGENITAL MALFORMATION; FERTILIZATION IN VITRO; GAMETE; GENETIC DISORDER; GENETICS; HUMAN; INFERTILITY; INFERTILITY THERAPY; INHERITANCE; INTRACYTOPLASMIC SPERM INJECTION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; REVIEW;

FEMALE; GENETIC ENGINEERING; HUMANS; INFERTILITY, FEMALE; INFERTILITY, MALE; MALE; PREGNANCY; REPRODUCTIVE TECHNIQUES;

EID: 18644379834     PISSN: 00016349     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.0001-6349.2005.00777.x     Document Type: Review

References (101)

1. Evens JL, Collins JA. Assessment of efficacy of varicocele repair for male subfertility: a systematic review. Lancet 2003; 361: 1849-52.
2. Evers JL. Female subfertility. Lancet 2002; 360: 151-9.
3. Dohle GR, Halley DJ, Van Hemel JO, van den Ouwel AM, Pieters MH, Weber RF et al. Genetic risk factors in infertile men with severe oligozoospermia and azoospermia. Hum Reprod 2002; 17: 13-6.
4. Aittomaki K, Wennerholm UB, Bergh C, Selbing A, Hazekamp J, Nygren KG. Safety issues in assisted reproduction technology: should ICSI patients have genetic testing before treatment? A practical proposition to help patient information. Hum Reprod 2004; 19: 472-6.
5. Simpson JL, Rajkovic A. Ovarian differentiation and gonadal failure. Am J Med Genet 1999; 89: 186-200.
6. De Braekeleer M, Dao TN. Cytogenetic studies in male infertility: a review. Hum Reprod 1991; 6: 245-50.
7. Montag M, van der Ven K, Ved S, Schmutzler A, Prietl G, Krebs D et al. Success of intracytoplasmic sperm injection in couples with male and/or female chromosome aberrations. Hum Reprod 1997; 12: 2635-40.
8. Meschede D, Exeler R, Wittwer B, Horst J. Submicroscopic deletion in 14q32.3 through a de novo tandem translocation between 14q and 21p. Am J Med Genet 1998; 80: 443-7.
9. Tuerlings JH, Ligtenberg MJ, Kremer JA, Siers M, Meuleman EJ, Braat DD et al. Screening male intracytoplasmic sperm injection candidates for mutations of the follicle stimulating hormone receptor gene. Hum Reprod 1998; 13: 2098-101.
10. Chandley AC. Chromosome anomalies and Y chromosome microdeletions as causal factors in male infertility. Hum Reprod 1998; 13: 45-50.
11. Johnson MD. Genetic risks of intracytoplasmic sperm injection in the treatment of male infertility: recommendations for genetic counseling and screening. Fertil Steril 1998; 70: 397-411.
12. Maduro MR, Lamb DJ. Understanding new genetics of male infertility. J Urol 2002; 168: 2197-205.
13. Friedler S, Raziel A, Strassburger D, Schachter M. Bern O. Ron-El R. Outcome of ICSI using fresh and cryopreserved-thawed testicular spermatozoa in patients with non-mosaic Klinefelter's syndrome. Hum Reprod 2001; 16: 2616-20.
14. Hreinsson JG, Otala M, Fridstrom M, Borgstrom B, Rasmussen C, Lundqvist M et al. Follicles are found in the ovaries of adolescent girls with Turner's syndrome. J Clin Endocrinol Metab 2002; 87: 3618-23.
15. Oktay K, Karlikaya GG, Aydin BA. Ovarian cryopreservation and transplantation: basic aspects. Mol Cell Endocrinol 2000; 169: 105-8.
16. Radford JA, Lieberman BA, Brison DR, Smith AR, Critchlow JD. Russell SA et al. Orthotopic reimplantation of cryopreserved ovarian cortical strips after high-dose chemotherapy for Hodgkin's lymphoma. Lancet 2001; 357: 1172-5.
17. Yding Andersen C, Schmidt KLT, Starup J et al. Autotransplantation of cryopreserved human ovarian tissue. Hum Reprod 2004; 19: i76.
18. Dolmans M-M, Demylle D, Martinez-Madrid B, Van Langendonckt A, Donnez J. Endocrine function and primordial follicle retrieval after orthotopic autotransplantation of cryopreserved ovarian tissue, biopsied before chemotherapy for Hodgkin's lymphoma and reimplanted five years after chemotherapy. Hum Reprod 2004; 19: i77.
19. Gardner R, Sutherland G. Robertsonian translocations. In: chromosome abnormalities and genetic counseling. New York: Oxford University Press, 2004: 122-37.
20. Conn CM, Harper JC, Winston RM, Delhanty JD. Infertile couples with Robertsonian translocations: preimplantation genetic analysis of embryos reveals chaotic cleavage divisions. Hum Genet 1998; 102: 117-23.
21. Escudero T, Lee M, Carrel D, Blanco J, Munne S. Analysis of chromosome abnormalities in sperm and embryos from two 45,XY,t(13;14)(q10;q10) carriers. Prenat Diagn 2000; 20: 599-602.
22. Frydman N, Romana S, Le Lorc'h M, Vekemans M, Frydman R, Tachdjian G. Assisting reproduction of infertile men carrying a Robertsonian translocation. Hum Reprod 2001; 16: 2274-7.
23. Rubio C, Gil-Salom M, Simon C, Vidal F, Rodrigo L, Minguez Y et al. Incidence of sperm chromosomal abnormalities in a risk population: relationship with sperm quality and ICSI outcome. Hum Reprod 2001; 16: 2084-92.
24. Tiepolo L, Zuffardi O. Localization of factors controlling spermatogenesis in the nonfluorescent portion of the human Y chromosome long arm. Hum Genet 1976; 34: 119-24.
25. Foresta C, Moro E, Ferlin A. Y chromosome microdeletions and alterations of spermatogenesis. Endocr Rev 2001; 22: 226-39.
26. Page DC, Silber S, Brown LG. Men with infertility caused by AZFc deletion can produce sons by intracytoplasmic sperm injection, but are likely to transmit the deletion and infertility. Hum Reprod 1999; 14: 1722-6.
27. Kent-First MG, Kol S, Muallem A, Ofir R, Manor D, Blazer S et al. The incidence and possible relevance of Y-linked micro-deletions in babies born after intracytoplasmic sperm injection and their infertile fathers. Mol Hum Reprod 1996; 2: 943-50.
28. Sun C, Skaletsky H, Birren B, Devon K, Tang Z, Silber S et al. An azoospermic man with a de novo point mutation in the Y-chromosomal gene USP9Y. Nat Genet 1999; 23: 429-32.
29. Lin YM, Chen CW, Sun HS, Hsu CC, Chen JM, Lin SJ et al. Y-chromosome microdeletion and its effect on reproductive decisions in Taiwanese patients presenting with nonobstructive azoospermia. Urology 2000; 56: 1041-6.
30. Simpson JL, Bischoff F. Heritability and candidate genes for endometriosis. Reprod Biomed Online 2003; 7: 162-9.
31. Legro RS, Strauss JF. Molecular progress in infertility: polycystic ovary syndrome. Fertil Steril 2002; 78: 569-76.
32. Franks S, Gharani N, Waterworth D, Batty S, White D, Williamson R et al. Genetics of polycystic ovary syndrome. Mol Cell Endocrinol 1998; 145: 123-8.
33. San Millan JL, Sancho J, Calvo RM, Escobar-Morreale HF. Role of the pentanucleotide (tttta) (n) polymorphism in the promoter of the CYP11a gene in the pathogenesis of hirsutism. Fertil Steril 2001; 75: 797-802.
34. Calvo RM, Asuncion M, Telleria D, Sancho J, San Millan JL, Escobar-Morreale HF. Screening for mutations in the steroidogenic acute regulatory protein and steroidogenic factor-1 genes, and in CYP11A and dosage-sensitive sex reversal-adrenal hypoplasia gene on the X chromosome, gene-1 (DAX-1), in hyperandrogenic hirsute women. J Clin Endocrinol Metab 2001; 86: 1746-9.
35. Themmen APN, Huhtaniemi IT. Mutations of gonadotropins and gonadotropin receptors: elucidating the physiology and pathophysiology of pituitary-gonadal function. Endocr Rev 2000; 21: 551-83.
36. Achermann JC, Ozisik G, Meeks JJ, Jameson JL. Genetic causes of human reproductive disease. J Clin Endocrinol Metab 2002; 87: 2447-54.
37. Aittomaki K, Lucena JL, Pakarinen P, Sistonen P, Tapanainen J, Gromoll J et al. Mutation in the follicle-stimulating hormone receptor gene causes hereditary hypergonadotropic ovarian failure. Cell 1995; 82: 959-68.
38. Kaplan E, Shwachman H, Perlmutter AD, Rule A, Khaw KT, Holsclaw DS. Reproductive failure in males with cystic fibrosis. N Engl J Med 1968; 279: 65-9.
39. Rigot JM, Lafitte JJ, Dumur V, Gervais R, Manouvrier S, Biserte J et al. Cystic fibrosis and congenital absence of the vas deferens. N Engl J Med 1991; 325: 64-5.
40. Anguiano A, Oates RD, Amos JA, Dean M, Gerrard B, Stewart C et al. Congenital bilateral absence of the vas deferens. A primarily genital form of cystic fibrosis. JAMA 1992; 267: 1794-7.
41. Augarten A, Yahav Y, Kerem BS, Halle D, Laufer J, Szeinberg A et al. Congenital bilateral absence of vas deferens in the absence of cystic fibrosis. Lancet 1994; 344: 1473-4.
42. Dumur V, Gervais R, Rigot JM, Delomel-Vinner E, Decaestecker B, Lafitte JJ et al. Congenital bilateral absence of the vas deferens (CBAVD) and cystic fibrosis transmembrane regulator (CFTR): correlation between genotype and phenotype. Hum Genet 1996; 97: 7-10.
43. Schwartz M, Brandt NJ, Koch C, Lanng S, Schiotz PO. Genetic analysis of cystic fibrosis in Denmark. Implications for genetic counselling, carrier diagnosis and prenatal diagnosis. Acta Paediatr 1992; 81: 522-6.
44. Allingham-Hawkins DJ, Babul-Hirji R, Chitayat D, Holden JJ, Yang KT, Lee C et al. Fragile X premutation is a significant risk factor for premature ovarian failure: the International Collaborative POF in Fragile X study - preliminary data. Am J Med Genet 1999; 83: 322-5.
45. Sherman SL. Premature ovarian failure in the fragile X syndrome. Am J Med Genet 2000; 97: 189-94.
46. Lutjen P, Trounson A, Leeton J, Findlay J, Wood C, Renou P. The establishment and maintenance of pregnancy using in vitro fertilization and embryo donation in a patient with primary ovarian failure. Nature 1984; 307: 174-5.
47. Abdalla HI, Baber R, Kirkland A, Leonard T, Power M, Studd JW. A report on 100 cycles of oocyte donation; factors affecting the outcome. Hum Reprod 1990; 5: 1018-22.
48. Press F, Shapiro HM, Cowell CA, Oliver GD. Outcome of ovum donation in Turner's syndrome patients. Fertil Steril 1995; 64: 995-8.
49. Foudila T, Soderstrom-Anttila V, Hovatta O. Turner's syndrome and pregnancies after oocyte donation. Hum Reprod 1999; 14: 532-5.
50. Hovatta O, Soderstrom-Anttila V, Foudila T, Tuomivaara L, Juntunen K, Tiitinen A et al. Pregnancies after oocyte donation in women with ovarian failure caused by an inactivating mutation in the follicle stimulating hormone receptor. Hum Reprod 2002; 17: 124-7.
51. Soderstrom-Anttila V, Foudila T, Hovatta O. Oocyte donation in infertility treatment - a review. Acta Obstet Gynecol Scand 2001; 80: 191-9.
52. Soderstrom-Anttila V, Foudila T, Ripatti UR, Siegberg R. Embryo donation: outcome and attitudes among embryo donors and recipients. Hum Reprod 2001; 16: 1120-8.
53. Handyside AH, Pattinson JK, Penketh RJ, Delhanty JD, Winston RM, Tuddenham EG. Biopsy of human preimplantation embryos and sexing by DNA amplification. Lancet 1989; 1: 347-9.
54. Hanson C, Jakobsson AH, Sjogren A, Lundin K, Nilsson L, Wahlstrom J et al. Preimplantation genetic diagnosis (PGD): the Gothenburg experience. Acta Obstet Gynecol Scand 2001; 80: 331-6.
55. ESHRE PGD Consortium Steering Committee. ESHRE Preimplantation Genetic Diagnosis Consortium: data collection III (May 2001). Hum Reprod 2002; 17: 233-46.
56. Verlinsky Y, Cohen J, Munne S, Gianaroli L, Simpson JL, Ferraretti AP et al. Over a decade of experience with preimplantation genetic diagnosis: a multicenter report. Fertil Steril 2004; 82: 292-4.
57. Tan SL, Royston P, Campbell S, Jacobs HS, Betts J, Mason B et al. Cumulative conception and livebirth rates after in-vitro fertilisation. Lancet 1992; 339: 1390-4.
58. Navot D, Bergh PA, Williams MA, Garrisi GJ, Guzman I, Sandler B et al. Poor oocyte quality rather than implantation failure as a cause of age-related decline in female fertility. Lancet 1991; 337: 1375-7.
59. Borini A, Bafaro G, Violini F, Bianchi L, Casadio V, Flamigni C. Pregnancies in postmenopausal women over 50 years old in an oocyte donation program. Fertil Steril 1995; 63: 258-61.
60. Angell RR, Xian J, Keith J. Chromosome anomalies in human oocytes in relation to age. Hum Reprod 1993; 8: 1047-54.
61. Battaglia DE, Goodwin P, Klein NA, Soules MR. Influence of maternal age on meiotic spindle assembly in oocytes from naturally cycling women. Hum Reprod 1996; 11: 2217-22.
62. Munne S, Alikani M, Tomkin G, Grifo J, Cohen J. Embryo morphology, developmental rates, and maternal age are correlated with chromosome abnormalities. Fertil Steril 1995; 64: 382-91.
63. Verlinsky Y, Cieslak J, Ivakhnenko V, Lifchez A, Strom C, Kuliev A. Birth of healthy children after preimplantation diagnosis of common aneuploidies by polar body fluorescent in situ hybridization analysis. Preimplantation Genetics Group. Fertil Steril 1996; 66: 126-9.
64. Verlinsky Y. Preimplantation genetic diagnosis - an integral part of assisted reproduction. J Assist Reprod Genet 2000; 17: 75-9.
65. Munne S, Magli C, Cohen J, Morton P, Sadowy S, Gianaroli L et al. Positive outcome after preimplantation diagnosis of aneuploidy in human embryos. Hum Reprod 1999; 14: 2191-9.
66. Gianaroli L, Magli MC, Ferraretti AP, Munne S. Preimplantation diagnosis for aneuploidies in patients undergoing in vitro fertilization with a poor prognosis: identification of the categories for which it should be proposed. Fertil Steril 1999; 72: 837-44.
67. MRC. Births in Great Britain resulting from assisted conception, 1978-87. MRC Working Party on Children Conceived by In Vitro Fertilisation. BMJ 1990; 300: 1229-33.
68. Bachelot A, Thepot F. French in vitro fertilization registry 1994 report. Contracept Fertil Sex 1995; 23: 490-3.
69. Friedler S, Mashiach S, Laufer N. Births in Israel resulting from in-vitro fertilization/embryo transfer, 1982-89: National Registry of the Israeli Association for Fertility Research. Hum Reprod 1992; 7: 1159-63.
70. SART. Assisted reproductive technology in the United States: 1997 results generated from the American Society for Reproductive Medicine/Society for Assisted Reproductive Technology Registry. Fertil Steril 2000; 74: 641-53 (discussion 53-4).
71. de Mouzon J, Lancaster P. World collaborative report on in vitro fertilization, preliminary data for 1995. J Assist Reprod Genet 1997; 14: 251S-65S.
72. Westergaard HB, Johansen AM, Erb K, Andersen AN. Danish National In-Vitro Fertilization Registry 1994 and 1995: a controlled study of births, malformations and cytogenetic findings. Hum Reprod 1999; 14: 1896-902.
73. Ericson A, Kallen B. Congenital malformations in infants born after IVF: a population-based study. Hum Reprod 2001; 16: 504-9.
74. Bergh T, Ericson A, Hillensjo T, Nygren KG, Wennerholm UB. Deliveries and children born after in-vitro fertilisation in Sweden 1982-95: a retrospective cohort study. Lancet 1999; 354: 1579-85.
75. Wennerholm UB, Bergh C, Hamberger L, Lundin K, Nilsson L, Wikland M et al. Incidence of congenital malformations in children born after ICSI. Hum Reprod 2000; 15: 944-8.
76. Bonduelle M, Camus M, De Vos A, Staessen C, Tournaye H, Van Assche E et al. Seven years of intracytoplasmic sperm injection and follow-up of 1987 subsequent children. Hum Reprod 1999; 14: 243-64.
77. Kurinczuk JJ, Bower C. Birth defects in infants conceived by intracytoplasmic sperm injection: an alternative interpretation. BMJ 1997; 315: 1260-5 (discussion 5-6).
78. Lancaster P. Congenital malformations and other pregnancy outcomes after microinsemination. In: Australian Birth Defects Society; Wiley-Liss Inc., 1999; 60: 93-99.
79. Hansen M, Kurinczuk JJ, Bower C, Webb S. The risk of major birth defects after intracytoplasmic sperm injection and in vitro fertilization. N Engl J Med 2002; 346: 725-30.
80. Bonduelle M, Van Assche E, Joris H, Keymolen K, Devroey P, Van Steirteghem A et al. Prenatal testing in ICSI pregnancies: incidence of chromosomal anomalies in 1586 karyotypes and relation to sperm parameters. Hum Reprod 2002; 17: 2600-14.
81. Oldereid NB, Abyholm T, Tanbo T, Engelund IE, Irgens LM. Congenital malformations in children born after assisted fertilization in Norway. Tidsskr Nor Laegeforen 2003; 123: 2696-9.
82. Anthony S, Buitendijk SE, Dorrepaal CA, Lindner K, Braat DD, den Ouden AL. Congenital malformations in 4224 children conceived after IVF. Hum Reprod 2002; 17: 2089-95.
83. Ludwig M, Katalinic A. Malformation rate in fetuses and children conceived after ICSI: results of a prospective cohort study. Reprod Biomed Online 2002; 5: 171-8.
84. Vilska S, Tiitinen A, Hyden-Granskog C, Hovatta O. Elective transfer of one embryo results in an acceptable pregnancy rate and eliminates the risk of multiple birth. Hum Reprod 1999; 14: 2392-5.
85. In't Veld P, Brandenburg H, Verhoeff A, Dhont M, Los F. Sex chromosomal abnormalities and intracytoplasmic sperm injection. Lancet 1995; 346: 773.
86. Van Opstal D, Los FJ, Ramlakhan S, Van Hemel JO, Van Den Ouweland AM, Brandenburg H et al. Determination of the parent of origin in nine cases of prenatally detected chromosome aberrations found after intracytoplasmic sperm injection. Hum Reprod 1997; 12: 682-6.
87. Aboulghar H, Aboulghar M, Mansour R, Serour G, Amin Y, Al-Inany H. A prospective controlled study of karyotyping for 430 consecutive babies conceived through intracytoplasmic sperm injection. Fertil Steril 2001; 76: 249-53.
88. Jacobs PA, Browne C, Gregson N, Joyce C, White H. Estimates of the frequency of chromosome abnormalities detectable in unselected newborns using moderate levels of banding. J Med Genet 1992; 29: 103-8.
89. Nielsen J, Wohlert M. Chromosome abnormalities found among 34,910 newborn children: results from a 13-year incidence study in Arhus, Denmark. Hum Genet 1991; 87: 81-3.
90. Reik W, Dean W, Walter J. Epigenetic reprogramming in mammalian development. Science 2001; 293: 1089-93.
91. De Rycke M, Liebaers I, Van Steirteghem A. Epigenetic risks related to assisted reproductive technologies: risk analysis and epigenetic inheritance. Hum Reprod 2002; 17: 2487-94.
92. Gosden R, Trasler J, Lucifero D, Faddy M. Rare congenital disorders, imprinted genes, and assisted reproductive technology. Lancet 2003; 361: 1975-7.
93. Maher ER, Afnan M, Barratt CL. Epigenetic risks related to assisted reproductive technologies: epigenetics, imprinting, ART and icebergs? Hum Reprod 2003; 18: 2508-11.
94. 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.
95. Orstavik KH, Eiklid K, van der Hagen CB, Spetalen S, Kierulf K, Skjeldal O et al. Another case of imprinting defect in a girl with Angelman syndrome who was conceived by intracytoplasmic semen injection. Am J Hum Genet 2003; 72: 218-9.
96. Gicquel C, Gaston V, Mandelbaum J, Siffroi JP, Flahault A, Le Bouc Y. In vitro fertilization may increase the risk of Beck-with-Wiedemann syndrome related to the abnormal imprinting of the KCN1OT gene. Am J Hum Genet 2003; 72: 1338-41.
97. DeBaun MR, Niemitz EL, Feinberg AP. Association of in vitro fertilization with Beckwith-Wiedemann syndrome and epigenetic alterations of LIT1 and H19. Am J Hum Genet 2003; 72: 156-60.
98. Maher ER, Brueton LA, Bowdin SC, Luharia A, Cooper W, Cole TR et al. Beckwith-Wiedemann syndrome and assisted reproduction technology (ART). J Med Genet 2003; 40: 62-4.
99. Bruinsma F, Venn A, Lancaster P, Speirs A, Healy D. Incidence of cancer in children born after in-vitro fertilization. Hum Reprod 2000; 15: 604-7.
100. Kadandale JS, Wachtel SS, Tunca Y, Martens PR, Wilroy RS, Tharapel AT. Deletion of RBM and DAZ in azoospermia: evaluation by PRINS. Am J Med Genet 2002; 107: 105-8.
101. Klip H, Burger CW, de Kraker J, van Leeuwen FE. Risk of cancer in the offspring of women who underwent ovarian stimulation for IVF. Hum Reprod 2001; 16: 2451-8.