Genetic testing in couples undergoing assisted reproduction technique protocols

Expert Opinion on Medical Diagnostics

Volumn 3, Issue 5, 2009, Pages 571-583

  Stuppia, Liborio ^a,b   Gatta, Valentina ^a   Antonucci, Ivana ^a   Giuliani, Rossella ^a   Scioletti, Anna Paola ^a   Palka, Giandomenico ^a,c  

^a UNIVERSITY OF CHIETI   (Italy)

^b CNR   (Italy)

^c ASL Pescara   (Italy)

Author keywords

Assisted reproduction techniques; CFTR gene mutations; Chromosome aberrations; Genetic counselling; Infertility of the couple; Yq microdeletions

Indexed keywords

TRANSMEMBRANE CONDUCTANCE REGULATOR;

CHROMOSOME ABERRATION; CHROMOSOME DELETION; CHROMOSOME YQ; CYSTIC FIBROSIS; CYTOGENETICS; FEMALE INFERTILITY; GENETIC DISORDER; GENETIC PROCEDURES; GENETIC SCREENING; GENOTYPE PHENOTYPE CORRELATION; HUMAN; INFERTILITY THERAPY; KARYOTYPING; KLINEFELTER SYNDROME; MALE INFERTILITY; MEDICAL LITERATURE; MUTATION; PREVALENCE; PROGENY; REVIEW; RISK REDUCTION; TURNER SYNDROME;

EID: 77953457219     PISSN: 17530059     EISSN: 17530067     Source Type: Journal    
DOI: 10.1517/17530050902970986     Document Type: Review

References (102)

1. Soini S, Ibarreta D, Anastasiadou V, et al. The interface between assisted reproductive technologies and genetics: technical, social, ethical and legal issues. Eur J Hum Genet 2006;14:588-645 (Pubitemid 44463864)
2. Steptoe PC, Edwards RG. Birth after the preimplantation of a human embryo. Lancet 1978;2:366
3. Foresta C, Ferlin A, Gianaroli L, Dallapiccola B. Guidelines for the appropriate use of genetic tests in infertile couples. Eur J Hum Genet 2002;10:303-312 (Pubitemid 34778049)
4. Palermo G, Joris H, Devroey P, Van Steirtheghem AC. Pregnancies after intracytoplasmic sperm injection of a single spermatozoon into an oocyte. Lancet 1992;340:17-18
5. Clementini E, Palka C, Iezzi I, et al. Prevalence of chromosomal abnormalities in 2078 infertile couples referred for assisted reproductive techniques. Hum Reprod 2005;20:437-442 (Pubitemid 40277613)
6. Foresta C, Garolla A, Bartoloni L, et al. Genetic abnormalities among severely oligospermic men who are candidates for intracytoplasmic sperm injection. J Clin Endocrinol Metab 2005;90:152-156 (Pubitemid 40116649)
7. Kuliev A, Verlinsky Y. Preimplantation genetic diagnosis: technological advances to improve accuracy and range of applications. Reprod Biomed Online 2008;16:532-538 (Pubitemid 351566168)
8. Hens L, Bonduelle M, Liebaers I, et al. Chromosome aberrations in 500 couples referred for in-vitro fertilization or related fertility treatment. Hum Reprod 1988;3:451-457 (Pubitemid 18142993)
9. Lange R, Johannson G, Engel W. Chromosome studies in in-vitro fertilization patients. Hum Reprod 1993;8:572-574 (Pubitemid 23116961)
10. Mau UA, Backert IT, Kaiser P, Kiesel L. Chromosomal findings in 150 couples referred for genetic counselling prior to intracytoplasmic sperm injection. Hum Reprod 1997;12:930-937 (Pubitemid 27271747)
11. Scholtes MC, Behrend C, Dietzel-Dahmen J, et al. Chromosomal aberrations in couples undergoing intracytoplasmic sperm injection: influence on implantation and ongoing pregnancy rates. Fertil Steril 1998;70:933-937 (Pubitemid 28499091)
12. van der Ven K, Peschka B, Montag M, et al. Increased frequency of congenital chromosomal aberrations in female partners of couples undergoing intracytoplasmic sperm injection. Hum Reprod 1998;13:48-54 (Pubitemid 28075271)
13. Meschede D, Lemcke B, Exeler JR, et al. Chromosome abnormalities in 447 couples undergoing intracytoplasmic sperm injection-prevalence, types, sex distribution and reproductive relevance. Hum Reprod 1998;13:576-582 (Pubitemid 28171950)
14. Peschka B, Leygraaf J, Van der Ven K, et al. Type and frequency of chromosome aberrations in 781 couples undergoing intracytoplasmic sperm injection. Hum Reprod 1999;14:2257-2263 (Pubitemid 29425410)
15. Gekas J, Thepot F, Turleau C, et al. Chromosomal factors of infertility in candidate couples for ICSI: an equal risk of constitutional aberrations in women and men. Hum Reprod 2001;16:82-90 (Pubitemid 32058585)
16. Sonntag B, Meschede D, Ullmann V, et al. Low-level sex chromosome mosaicism in female partners of couples undergoing ICSI therapy does not significantly affect treatment outcome. Hum Reprod 2001;16:1648-1652 (Pubitemid 32761744)
17. Riccaboni A, Lalatta F, Caliari I, et al. Genetic screening in 2,710 infertile candidate couples for assisted reproductive techniques: results of application of Italian guidelines for the appropriate use of genetic tests. Fertil Steril 2008;89:800-808
18. Ferlin A, Raicu F, Gatta V, et al. Male infertility: role of genetic background. Reprod Biomed Online 2007;14:734-745 (Pubitemid 46951709)
19. Martin RH. Cytogenetic determinants of male fertility. Hum Reprod Update 2008;14:379-390
20. 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;87:81-83
21. Stuppia L, Gatta V, Calabrese G, et al. A quarter of men with idiopathic oligo-azoospermia display chromosomal abnormalities and microdeletions of different types in interval 6 of Yq11. Hum Genet 1998;102:566-570 (Pubitemid 28282585)
22. Wattendorf DJ, Muenke M. Klinefelter syndrome. Am Fam Physician 2005;72:2259-2262
23. Rao E, Weiss B, Fukami M, et al. Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome. Nat Genet 1997;16:54-63 (Pubitemid 27198156)
24. Reubinoff BE, Abeliovich D, Werner M, et al. A birth in non-mosaic Klinefelter's syndrome after testicular fine needle aspiration, intracytoplasmic sperm injection and preimplantation genetic diagnosis. Hum Reprod 1998;13:1887-1892 (Pubitemid 28393473)
25. Ron-El R, Strassburger D, Gelman-Kohan S, et al. A 47,XXY fetus conceived after ICSI of spermatozoa from a patient with non-mosaic Klinefelter's syndrome: case report. Hum Reprod 2000;15:1804-1806 (Pubitemid 30636073)
26. Melnyk J, Thompson H, Rucci AJ, et al. Failure of transmission of the extra chromosome in subjects with 47,XYY karyotype. Lancet 2 1969;7624:797-798
27. Chandley AC. Chromosomes. In: Hargreave TB, editor. Male Infertility. Springer: Berlin Heidelberg, New York. 1985. p. 144-159
28. Gabriel-robez O, Delobel B, Croquette MF, et al. Synaptic behaviour of sex chromosome in two XYY men. Ann Genet 1996;39:129-132 (Pubitemid 26317086)
29. Speed RM, Faed MJ, Batstone PJ, et al. Persistence of two Y chromosomes through meiotic prophase and metaphase I in an XYY man. Hum Genet 1991;87:416-420
30. Solari AJ, Rey Valzacchi G. The prevalence of a YY synaptonemal complex over XY synapsis in an XYY man with exclusive XYY spermatocytes. Chromosome Res 1997;5:467-474 (Pubitemid 27503569)
31. Milazzo JP, Rives N, Mousset-Siméon N, Macé B. Chromosome constitution and apoptosis of immature germ cells present in sperm of two 47,XYY infertile males. Hum Reprod 2006;21:1749-1758 (Pubitemid 44028245)
32. de la Chapelle A. The etiology of maleness in XX men. Hum Genet 1981;58:105-116
33. Andersson M, Page DC, de la Chapelle A. Chromosome Y-specific DNA is transferred to the short arm of X chromosome in human XX males. Science 1986;233:786-788 (Pubitemid 16016234)
34. Simpson JL, Rajkovic A. Ovarian differentiation and gonadal failure. Am J Med Genet 1999;89:186-200
35. Therman E, Susman M. Human Chromosome: Structure, Behaviour and Effects. Springer-Verlag, New York. 1993. p. 273-287
36. Aittomäki K, Bergh C, Hazekamp J, et al. Genetics and assisted reproduction technology. Acta Obstet Gynecol Scand 2005;84:463-473
37. Baschat AA, Kupker W, al Hasani S, et al. Results of cytogenetic analysis in men with severe subfertility prior to intracytoplasmic sperm injection. Hum Reprod 1996;12:330-333
38. Stuppia L, Mastroprimiano G, Calabrese G, et al. Microdeletions in interval 6 of the Y chromosome detected by STS-PCR in 6 of 33 patients with idiopathic oligo- or azoospermia. Cytogenet Cell Genet 1996;72:155-158 (Pubitemid 26080160)
39. Najmabadi H, Huang V, Yen P, et al. Substantial prevalence of microdeletions of the Y-chromosome in infertile men with idiopathic azoospermia and oligozoospermia detected using a sequencetagged site-based mapping strategy. J Clin Endocrinol Metab 1996;81:1347-1352 (Pubitemid 26118561)
40. Pryor JL, Kent-First M, Muallem A, et al. Microdeletions in the Y chromosome of infertile men. N Engl J Med 1997;336:534-539
41. McElreavey K, Krausz C. Sex Chromosome Genetics '99. Male infertility and the Y chromosome. Am J Hum Genet 1999;64:928-933
42. Foresta C, Moro E, Ferlin A. Y chromosome microdeletions and alterations of spermatogenesis. Endocrine Rev 2001;22:226-329
43. Ferlin A, Arredi B, Speltra E, et al. Molecular and clinical characterization of Y chromosome microdeletions in infertile men: a 10-year experience in Italy. J Clin Endocrinol Metab 2007;92:762-770 (Pubitemid 46465638)
44. Tiepolo L, Zuffardi O. Localization of factors controlling spermatogenesis in the nonfluorescent portion of the human Y chromosome long arm. Hum Genet 1976;34:119-124
45. Vogt PH, Edelmann A, Kirsch S, et al. Human Y chromosome azoospermia factors (AZF) mapped to different subregions in Yq11. Hum Mol Genet 1996;5:933-943 (Pubitemid 26232272)
46. Ma K, Inglis JD, Sharkey A, et al. A Y chromosome gene family with RNA-binding protein homology: candidates for the azoospermia factor AZF controlling human spermatogenesis. Cell 1993;75:1287-1295 (Pubitemid 24021904)
47. Reijo R, Lee TY, Salo P, et al. Diverse spermatogenic defects in humans caused by Y chromosome deletions encompassing a novel RNA-binding protein gene. Nat Genet 1995;10:383-439 (Pubitemid 126523282)
48. Vogt PH. Human chromosome deletions in Yq11, AZF candidate genes and male infertility: history and update. Mol Hum Reprod 1998;4:739-744
49. Foresta C, Ferlin A, Moro E. Deletion and expression analysis of AZFa genes on the human Y chromosome revealed a major role for DBY in male infertility. Hum Mol Genet 2000;9:1161-1169 (Pubitemid 30248601)
50. Stuppia L, Gatta V, Fogh I, et al. Genomic organization, physical mapping, and involvement in Yq microdeletions of the VCY2 (BPY 2) gene. Genomics 2001;72:153-157 (Pubitemid 32242955)
51. Blanco P, Shlumukova M, Sargent C, et al. Divergent outcomes of intrachromosomal recombination on the human Y chromosome: male infertility and recurrent polymorphism. J Med Genet 2000;37:752-758 (Pubitemid 30793787)
52. Kamp C, Hirschmann P, Voss H, et al. Two long homologous retroviral sequence blocks in proximal Yq11 cause AZFa microdeletions as a result of intrachromosomal recombination events. Hum Mol Genet 2000;9:2563-2572 (Pubitemid 30814644)
53. Sun C, Skaletsky H, Rozen S, et al. Deletion of azoospermia factor a (AZFa) region of human Y chromosome caused by recombination between HERV15 proviruses. Hum Mol Genet 2000;9:2291-2296 (Pubitemid 30734101)
54. Ferlin A, Moro E, Garolla A, Foresta C. Human male infertility and Y chromosome deletions: role of the AZF-candidate genes DAZ, RBM and DFFRY. Hum Reprod 1999;14:1710-1716 (Pubitemid 29358682)
55. Krausz C, Quintana-Murci L, McElreavey K. Prognostic value of Y deletion analysis: what is the clinical prognostic value of Y chromosome microdeletion analysis? Hum Reprod 2000;15:1431-1434
56. Kamp C, Huellen K, Fernandes S, et al. High deletion frequency of the complete AZFa sequence in men with Sertoli-cell-only syndrome. Mol Hum Reprod 2001;7:987-994 (Pubitemid 32952181)
57. Kleiman SE, Bar-Shira Maymon B, Yogev L, et al. The prognostic role of the extent of Y microdeletion on spermatogenesis and maturity of Sertoli cells. Hum Reprod 2001;16:399-402 (Pubitemid 32218784)
58. Ferlin A, Moro E, Rossi A, et al. The human Y chromosome's azoospermia factor b (AZFb) region: sequence, structure, and deletion analysis in infertile men. J Med Genet 2003;40:18-24 (Pubitemid 36115120)
59. Kuroda-Kawaguchi T, Skaletsky H, Brown LG, et al. The AZFc region of the Y chromosome features massive palindromes and uniform recurrent deletions in infertile men. Nat Genet 2001;29:279-286 (Pubitemid 33096452)
60. Skaletsky H, Kuroda-Kawaguchi T, Minx PJ, et al. The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes. Nature 2003;423:825-837 (Pubitemid 36781267)
61. Ferlin A, Moro E, Rossi A, Foresta C. CDY1 analysis in infertile patients with DAZ deletions. J Endocrinol Invest 2001;24:RC4-6 (Pubitemid 32201207)
62. Chang PL, Sauer MV, Brown S. Y chromosome microdeletion in a father and his four infertile sons. Hum Reprod 1999;14:2689-2694 (Pubitemid 29520673)
63. Saut N, Terriou P, Navarro A, et al. The human Y chromosome genes BPY2, CDY1 and DAZ are not essential for sustained fertility. Mol Hum Reprod 2000;6:789-793
64. Gatta V, Stuppia L, Calabrese G, et al. A new case of Yq microdeletion transmitted from a normal father to two infertile sons. J Med Genet 2002;39:E27
65. Siffroi JP, Le Bourhis C, Krausz C, et al. Sex chromosome mosaicism in males carrying Y chromosome long arm deletions. Hum Reprod 2000;15:2559-2562 (Pubitemid 32000512)
66. Vogt PH. Genomic heterogeneity and instability of the AZF locus on the human Y chromosome. Mol Cell Endocrinol 2004;224:1-9
67. Repping S, Skaletsky H, Brown L, et al. Polymorphism for a 1.6-Mb deletion of the human Y chromosome persists through balance between recurrent mutation and haploid selection. Nat Genet 2003;35:247-251 (Pubitemid 37363178)
68. de Llanos M, Ballesca JL, Gazquez C, et al. High frequency of gr/gr chromosome Y deletions in consecutive oligospermic ICSI candidates. Hum Reprod 2005;20:216-220
69. Ferlin A, Tessari A, Ganz F, et al. Association of partial AZFc region deletions with spermatogenic impairment and male infertility. J Med Genet 2005;42:209-213 (Pubitemid 40380300)
70. Giachini C, Guarducci E, Longepied G, et al. The gr/gr deletion(s): a new genetic test in male infertility? J Med Genet 2005;42:497-502
71. Lynch M, Cram DS, Reilly A, et al. The Y chromosome gr/gr subdeletion is associated with male infertility. Mol Hum Reprod 2005;11:507-512 (Pubitemid 41258238)
72. Machev N, Saut N, Longepied G, et al. Sequence family variant loss from the AZFc interval of the human Y chromosome, but not gene copy loss, is strongly associated with male infertility. J Med Genet 2004;41:814-825 (Pubitemid 39524308)
73. Hucklenbroich K, Gromoll J, Heinrich M, et al. Partial deletions in the AZFc region of the Y chromosome occur in men with impaired as well as normal spermatogenesis. Hum Reprod 2005;20:191-197
74. Carvalho CM, Zuccherato LW, Bastos-Rodrigues L, et al. No association found between gr/gr deletions and infertility in Brazilian males. Mol Hum Reprod 2006;12:269-273 (Pubitemid 43779079)
75. Carvalho CM, Zuccherato LW, Fujisawa M, et al. Study of AZFc partial deletion gr/gr in fertile and infertile Japanese males. J Hum Genet 2006;51:794-799 (Pubitemid 44386823)
76. Ravel C, Chantot-Bastaraud S, El Houate B, et al. GR/GR deletions within the azoospermia factor c region on the Y chromosome might not be associated with spermatogenic failure. Fertil Steril 2006;85:229-231 (Pubitemid 43063456)
77. Zhang F, Li Z, Wen B, et al. A frequent partial AZFc deletion does not render an increased risk of spermatogenic impairment in East Asians. Ann Hum Genet 2006;70:304-313
78. Repping S, van Daalen SK, Korver CM, et al. A family of human Y chromosomes has dispersed throughout northern Eurasia despite a 1.8-Mb deletion in the azoospermia factor c region. Genomics 2004;83:1046-1052 (Pubitemid 38726052)
79. Fernandes S, Paracchini S, Meyer LH, et al. A large AZFc deletion removes DAZ3/DAZ4 and nearby genes from men in Y haplogroup N. Am J Hum Genet 2004;74:180-187 (Pubitemid 38085250)
80. Wu B, Lu NX, Xia YK, et al. A frequent Y chromosome b2/b3 subdeletion shows strong association with male infertility in Han-Chinese population. Hum Reprod 2007;22:1107-1113
81. Zhang F, Lu C, Li Z, et al. Partial deletions are associated with an increased risk of complete deletion in AZFc: a new insight into the role of partial AZFc deletions in male infertility. J Med Genet 2007;44:437-444 (Pubitemid 47056869)
82. Stuppia L, Calabrese G, Franchi PG, et al. Widening of a Y-chromosome interval-6 deletion transmitted from a father to his infertile son accounts for an oligozoospermia critical region distal to the RBM1 and DAZ genes. Am J Hum Genet 1996;59:1393-1395 (Pubitemid 26394132)
83. Zielenski J. Genotype and phenotype in cystic fibrosis. Respiration 2000;67(2):117-133
84. Mickle J, Milunsky A, Amos JA, Oates RD. Congenital unilateral absence of the vas deferens: a heterogeneous disorder with two distinct subpopulations based upon aetiology and mutational status of the cystic fibrosis gene. Hum Reprod 1995;10:1728-1735
85. Chu CS, Trapnell BC, Curristin S, et al. Genetic basis of variable exon-9 skipping in cystic fibrosis transmembrane conductance regulator messenger RNA. Nat Genet 1993;3:151-156 (Pubitemid 23079798)
86. Claustres M, Guittard C, Bozon D, et al. Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France. Hum Mutat 2000;16:143-156 (Pubitemid 30604904)
87. Dayangaç D, Erdem H, Yilmaz E, et al. Mutations of the CFTR gene in Turkish patients with congenital bilateral absence of the vas deferens. Hum Reprod 2004;19:1094-1100 (Pubitemid 38618488)
88. Bombieri C, Bonizzato A, Castellani C, et al. Frequency of large CFTR gene rearrangements in Italian CF patients. Eur J Hum Genet 2005;13:687-689 (Pubitemid 40691411)
89. Stuppia L, Antonucci I, Binni F, et al. Screening of mutations in the CFTR gene in 1,195 couples entering assisted reproduction technique programs. Eur J Hum Genet 2005;13:959-964 (Pubitemid 41131744)
90. Ferlin A, Vinanzi C, Garolla A, et al. Male infertility and androgen receptor gene mutations: clinical features and identifi cation of seven novel mutations. Clin Endocrinol 2006;65:606-1160 (Pubitemid 44583820)
91. Veitia R, Ion A, Barbaux S, et al. Mutations and sequence variants in the testis-determining region of the Y chromosome in individuals with a 46,XY female phenotype. Hum Genet 1997;99:648-652 (Pubitemid 27192598)
92. Lin L, Philibert P, Ferraz-de-Souza B, et al. Heterozygous missense mutations in steroidogenic factor 1 (SF1/Ad4BP, NR5A1) are associated with 46,XY disorders of sex development with normal adrenal function. J Clin Endocrinol Metab 2007;92:991-999 (Pubitemid 46465674)
93. Canto P, Vilchis F, Soderlund D, et al. A heterozygous mutation in the desert hedgehog gene in patients with mixed gonadal dysgenesis. Mol Hum Reprod 2005;11:833-836 (Pubitemid 43205492)
94. Allingham-Hawkins DJ, Babul-Hirji R, Chitayat D, 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;83:322-325 (Pubitemid 29162637)
95. Aittomaki K, Wennerholm UB, Bergh C, et al. Safety issues in assisted reproduction technology: should ICSI patients have genetic testing before treatment? A practical proposition to help patient information. Hum Reprod 2004;19:472-476 (Pubitemid 38344503)
96. Simoni M, Bakker E, Krausz C. EAA/ EMQN best practice guidelines for molecular diagnosis of Y-chromosomal microdeletions. State of the art 2004. Int J Androl 2004;27:240-249 (Pubitemid 39062086)
97. Krausz C, Forti G, Mcelreavey K. The Y chromosome and male fertility and infertility. Int J Androl 2003;26:70-75
98. D'Apice MR, Gambardella S, Bengala M, et al. Molecular analysis using DHPLC of cystic fibrosis: increase of the mutation detection rate among the affected population in Central Italy. BMC Med Genet 2004;5:8 (Pubitemid 38692982)
99. Paracchini V, Seia M, Coviello D, et al. Molecular and clinical features associated with CFTR gene rearrangements in Italian population: identification of a new duplication and recurrent deletions. Clin Genet 2008;73:346-352
100. Groman JD, Hefferon TW, Casals T, et al. Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benign. Am J Hum Genet 2004;74:176-179 (Pubitemid 38085249)
101. The ESHRE Capri Workshop Group. Genetic aspects of female reproduction. Human Rep Update 2008;14:293-307
102. Scarciolla O, Stuppia L, De Angelis MV, et al. Spinal muscular atrophy genotyping by gene dosage using multiple ligation-dependent probe amplification. Neurogenetics 2006;7:269-276 (Pubitemid 44584081)