Current issues in medically assisted reproduction and genetics in Europe: Research, clinical practice, ethics, legal issues and policy European society of human genetics and European society of human reproduction and embryology

European Journal of Human Genetics

Volumn 21, Issue SUPPL.2, 2013, Pages

  Harper, Joyce C ^a   Geraedts, Joep ^b   Borry, Pascal ^c   Cornel, Martina C ^d   Dondorp, Wybo ^b   Gianaroli, Luca ^e   Harton, Gary ^f   Milachich, Tanya ^g   Kääriäinen, Helena ^h   Liebaers, Inge ⁱ   Morris, Michael ^j   Sequeiros, Jorge ^k   Sermon, Karen ⁱ   Shenfield, Françoise ^a   Skirton, Heather ^l   Soini, Sirpa ^h   Spits, Claudia ⁱ   Veiga, Anna ^m   Vermeesch, Joris Robert ^c   Viville, Stéphane ⁿ   De Wert, Guido ^b   MacEk, Milan ^o   more..

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b MAASTRICHT UNIVERSITY   (Netherlands)

^c UNIVERSITY OF LEUVEN   (Belgium)

^d VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^e Reproductive Medicine Unit   (Italy)

^f UNIVERSITY OF KENT   (United Kingdom)

^g SAGBAL Hospital 'Dr Shterev'   (Bulgaria)

^h NATIONAL PUBLIC HEALTH INSTITUTE   (Finland)

ⁱ VRIJE UNIVERSITEIT BRUSSEL   (Belgium)

^j Synlab Lausanne ^*  (Switzerland)

^k UNIVERSITY OF PORTO   (Portugal)

^l UNIVERSITY OF PLYMOUTH   (United Kingdom)

^m INSTITUT UNIVERSITARI DEXEUS   (Spain)

ⁿ CNRS   (France)

^o UNIVERSITY HOSPITAL MOTOL   (Czech Republic)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; BIRTH DEFECT; CLINICAL GENETICS; CLINICAL PRACTICE; CONCEPTION; EMBRYONIC STEM CELL; EPIGENETICS; ETHICS; EUROPE; EUROPEAN UNION; FEMALE INFERTILITY; FOLLOW UP; GENETIC COUNSELING; GENETIC SCREENING; GENETICS; GENOME; GENOME IMPRINTING; HEALTH CARE; HUMAN; INFERTILITY THERAPY; LEGAL ASPECT; MALE INFERTILITY; PLURIPOTENT STEM CELL; POLICY; POPULATION GENETICS; PRIORITY JOURNAL; REPRODUCTION; SINGLE NUCLEOTIDE POLYMORPHISM;

ANIMALS; CONGENITAL ABNORMALITIES; DISEASE MODELS, ANIMAL; EMBRYONIC STEM CELLS; EPIGENESIS, GENETIC; EUROPE; FEMALE; FERTILIZATION IN VITRO; GENETIC COUNSELING; GENETIC TESTING; GENETIC VARIATION; GENETICS, MEDICAL; GUIDELINES AS TOPIC; HUMANS; INFERTILITY; MALE; MEDICAL TOURISM; POLICY; PREGNANCY; PREIMPLANTATION DIAGNOSIS; REGENERATIVE MEDICINE; REPRODUCTION; REPRODUCTIVE TECHNIQUES, ASSISTED; SOCIETIES, SCIENTIFIC;

EID: 84887979621     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2013.219     Document Type: Article

References (296)

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.
2. Kaariainen H: Assisted reproduction and genetics. Eur J Hum Genet 2006; 14: 505.
3. European Societies of Human Genetics and Human Reproduction and Embryology. The need for interaction between assisted reproduction technology and genetics: recommendations of the European Societies of Human Genetics and Human Reproduction and Embryology. Hum Reprod (Oxford, England) 2006; 21: 1971-1973.
4. European Society of Human Genetics. The Public and Professional Policy Committee (PPPC), 2013; https://www.eshg.org/pppc.0.html. Accessed: July 2013.
5. European Society of Human Genetics, 2013; http://www.eshg.org/. Accessed: July 2013.
6. European Society of Human Reproduction and Embryology, 2013; http://www.eshre. eu/. Accessed: July 2013.
7. European Societies of Human Genetics and Human Reproduction and Embryology. The need for interaction between assisted reproduction technology and genetics. Recommendations of the European Societies of Human Genetics and Human Reproduction and Embryology. Eur J Hum Genet 2006; 14: 509-511.
8. Mastenbroek S, Twisk M, van der Veen F, Repping S: Preimplantation genetic screening: a systematic review and meta-analysis of RCTs. Hum Reprod Update 2011; 17: 454-466.
9. Yang Z, Liu J, Collins GS et al: Selection of single blastocysts for fresh transfer via standard morphology assessment alone and with array CGH for good prognosis IVF patients: results from a randomized pilot study. Mol Cytogenet 2012; 5: 24.
10. Organisation for Economic Cooperation and Development. OECD Guidelines for Quality Assurance in Molecular Genetic Testing 2007; www.oecd.org/dataoecd/ 43/6/38839788.pdf. Accessed: July 2013.
11. International Organization for Standardization: ISO 15189:2012-Medical Laboratories-Requirements for Quality and Competence. http://www.iso.org/iso/ home/store/catalogue-ics/catalogue-detail-ics.htm?csnumber=56115. Accessed: July 2013
12. Clinical Pathology Accreditation United Kingdom. http://www.cpa-uk.co.uk/ . Accessed: July 2013.
13. European Society of Human Genetics. Statement on direct-to-consumer genetic testing for health-related purposes. Eur J Hum Genet 2010; 18: 1271-1273.
14. Howard HC, Borry P: Europe and direct-to-consumer genetic tests. Nat Rev Genet 2011; 13: 146 author reply 146.
15. Werner T: Next generation sequencing allows deeper analysis and understanding of genomes and transcriptomes including aspects to fertility. Reprod Fertil Dev 2011; 23: 75-80.
16. Burton H, Cole T, Lucassen AM: Genomic medicine: challenges and opportunities for physicians. Clin Med (London, England) 2012; 12: 416-419.
17. Hens K, Dondorp W, Geraedts J, de Wert G: Comprehensive pre-implantation genetic screening: ethical reflection urgently needed. Nat Rev Genet 2012; 13: 676-677.
18. Pinborg A, Loft A, Henningsen AK, Ziebe S: Does assisted reproductive treatment increase the risk of birth defects in the offspring? Acta Obstet Gynecol Scand 2012; 91: 1245-1246.
19. Davies MJ, Moore VM, Willson KJ et al: Reproductive technologies and the risk of birth defects. N Engl J Med 2012; 366: 1803-1813.
20. Halliday JL, Ukoumunne OC, Baker HW et al: Increased risk of blastogenesis birth defects, arising in the first 4 weeks of pregnancy, after assisted reproductive technologies. Hum Reprod (Oxford, England) 2010; 25: 59-65.
21. Manipalviratn S, DeCherney A, Segars J: Imprinting disorders and assisted reproductive technology. Fertil Steril 2009; 91: 305-315.
22. Harper JC, Wilton L, Traeger-Synodinos J et al: The ESHRE PGD Consortium: 10 years of data collection. Hum Reprod Update 2012; 18: 234-247.
23. Shenfield F, de Mouzon J, Pennings G et al: Cross border reproductive care in six European countries. Hum Reprod (Oxford, England) 2010; 25: 1361-1368.
24. Connolly MP, Postma MJ, Crespi S, Andersen AN, Ziebe S: The long-term fiscal impact of funding cuts to Danish public fertility clinics. Reprod Biomed Online 2011; 23: 830-837.
25. Pennings G, de Wert G, Shenfield F, Cohen J, Tarlatzis B, Devroey P: ESHRE Task Force on Ethics and Law 14: equity of access to assisted reproductive technology. Hum Reprod (Oxford, England) 2008; 23: 772-774.
26. Kayisli UA, Seli E: Stem cells and fertility: what does the future hold? Curr Opin Obstet Gynecol 2006; 18: 338-343. (Pubitemid 43864736)
27. Harper J, Magli MC, Lundin K, Barratt CL, Brison D: When and how should new technology be introduced into the IVF laboratory? Hum Reprod (Oxford, England) 2012; 27: 303-313.
28. Brown R, Harper J: The clinical benefit and safety of current and future assisted reproductive technology. Reprod Biomed Online 2012; 25: 108-117.
29. European Commission Directive 2004/23/EC of the European Parliament and of the Council of 31 March 2004 on setting standards of quality and safety for the donation, procurement, testing, processing, preservation, storage and distribution of human tissues and cells. http://eur-lex.europa.eu/LexUriServ/ LexUriServ.do?uri=OJ:-L:2004:102:0048:0058:en:PDF. Accessed: July 2013.
30. European Commission Directive 2006/17/EC of 8 February 2006 implementing Directive 2004/23/EC of the European Parliament and of the Council as regards certain technical requirements for the donation, procurement and testing of human tissues and cells. http://eur-lex.europa.eu/LexUriServ/LexUriServ.do?uri= OJ :L:2006:038:0040:0052:EN:PDF. Accessed: July 2013.
31. European Commission Directive 2006/86/EC of 24 October 2006 implementing Directive 2004/23/EC of the European Parliament and of the Council as regards traceability requirements, notification of serious adverse reactions and events and certain technical requirements for the coding, processing, preservation, storage and distribution of human tissues and cells. http://eur-lex.europa.eu/ LexUriServ/Lex UriServ.do?uri=OJ:L:2006:294:0032:0050:EN:PDF. Accessed: July 2013.
32. Willemen D, D'Hooghe T, Knoops I, De Neubourg D, Spiessens C: Does the European Union Tissues and Cells Directive improve quality in the in vitro fertilization laboratory? A case study in a tertiary referral center. Semin Reprod Med 2012; 30: 191-198.
33. European Commission Directive 98/79/EC of the European Parliament and of the Council of 27 October 1998 on in vitro diagnostic medical devices. http://eur-lex.europa.eu/LexUriServ/LexUriServ.do?uri=OJ:L:1998:331:0001:0037: EN: PDF. Accessed: July 2013.
34. Blyth E, Thorn P, Wischmann T: CBRC and psychosocial counselling: assessing needs and developing an ethical framework for practice. Reprod Biomed Online 2011; 23: 642-651.
35. Pennings G, de Wert G, Shenfield F, Cohen J, Tarlatzis B, Devroey P: ESHRE task force on ethics and law 15: cross-border reproductive care. Hum Reprod (Oxford, England) 2008; 23: 2182-2184.
36. Shenfield F, Pennings G, De Mouzon J, Ferraretti AP, Goossens V: ESHRE's good practice guide for cross-border reproductive care for centers and practitioners. Hum Reprod (Oxford, England) 2011; 26: 1625-1627.
37. Dickens B: Cross-border reproductive services: FIGO Committee for the Ethical Aspects of Human Reproduction and Women's Health. Int J Gynaecol Obstet 2010; 111: 190-191.
38. European Society of Human Reproduction and Embryology. Good Clinical Treatment in Assisted Reproduction-An ESHRE position paper 2008; http://www.eshre. eu/binarydata.aspx?type=doc&sessionId= zkky02eequx31z45nwq2otil/Good-Clinical-treatment-in-Assisted-Reproduction- ENGLISH-new.pdf. Accessed: July 2013.
39. Storrow RF: The pluralism problem in cross-border reproductive care. Hum Reprod (Oxford, England) 2010; 25: 2939-2943.
40. United Kingdom Human Fertilisation & Embryology Authority. Considering fertility treatment abroad: issues and risks 2009; http://www.hfea.gov.uk/fertility-clinicstreatment-abroad.html. Accessed: July 2013.
41. Fertility Europe. http://www.fertilityeurope.eu/. Accessed: July 2013.
42. Cobo A, Kuwayama M, Perez S, Ruiz A, Pellicer A, Remohi J: Comparison of concomitant outcome achieved with fresh and cryopreserved donor oocytes vitrified by the Cryotop method. Fertil Steril 2008; 89: 1657-1664. (Pubitemid 351749628)
43. Mertes H, Pennings G, Dondorp W, de Wert G: Implications of oocyte cryostorage for the practice of oocyte donation. Hum Reprod (Oxford, England) 2012; 27: 2886-2893.
44. 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)
45. Beysen D, De Paepe A, De Baere E: FOXL2 mutations and genomic rearrangements in BPES. Hum Mutat 2009; 30: 158-169.
46. Calderon FR, Nelson L, Dobrowolski P et al: Combination of enzyme analysis, allelespecific PCR and sequencing to detect mutations in the GALT gene. J Inherit Metab Dis 2007; 30: 818.
47. Tong ZB, Sullivan SD, Lawless LM, Vanderhoof V, Zachman K, Nelson LM: Five mutations of mitochondrial DNA polymerase-gamma (POLG) are not a prevalent etiology for spontaneous 46,XX primary ovarian insufficiency. Fertil Steril 2010; 94: 2932-2934.
48. De Vos M, Devroey P, Fauser BC: Primary ovarian insufficiency. Lancet 2010; 376: 911-921.
49. Persani L, Rossetti R, Cacciatore C: Genes involved in human premature ovarian failure. J Mol Endocrinol 2010; 45: 257-279.
50. Cadman SM, Kim SH, Hu Y, Gonzalez-Martinez D, Bouloux PM: Molecular pathogenesis of Kallmann's syndrome. Hormone Res 2007; 67: 231-242. (Pubitemid 46558886)
51. Hughes IA, Werner R, Bunch T, Hiort O: Androgen insensitivity syndrome. Semin Reprod Med 2012; 30: 432-442.
52. European Society of Human Reproduction and Embryology. Genetic aspects of female reproduction, proceedings from the Capri Workshop Group. Hum Reprod Update 2008; 14: 293-307.
53. Rull K, Nagirnaja L, Laan M: Genetics of recurrent miscarriage: challenges, current knowledge, future directions. Front Genet 2012; 3: 34.
54. McNamee K, Dawood F, Farquharson R: Recurrent miscarriage and thrombophilia: an update. Curr Opin Obstet Gynecol 2012; 24: 229-234.
55. Hunter JE, Epstein MP, Tinker SW, Charen KH, Sherman SL: Fragile X-associated primary ovarian insufficiency: evidence for additional genetic contributions to severity. Genet Epidemiol 2008; 32: 553-559.
56. Keymolen K, Staessen C, Verpoest W et al: A proposal for reproductive counselling in carriers of Robertsonian translocations: 10 years of experience with preimplantation genetic diagnosis. Hum Reprod (Oxford, England) 2009; 24: 2365-2371.
57. Keymolen K, Staessen C, Verpoest W, Liebaers I, Bonduelle M: Preimplantation genetic diagnosis in female and male carriers of reciprocal translocations: clinical outcome until delivery of 312 cycles. Eur J Hum Genet 2012; 20: 376-380.
58. Koika V, Georgopoulos NA, Piouka A et al: Increased frequency of the DI genotype of the angiotensin-I converting enzyme and association of the II genotype with insulin resistance in polycystic ovary syndrome. Eur J Endocrinol 2012; 166: 695-702.
59. Rahmioglu N, Missmer SA, Montgomery GW, Zondervan KT: Insights into assessing the genetics of endometriosis. Curr Obstet Gynecol Rep 2012; 1: 124-137.
60. Sykiotis GP, Pitteloud N, Seminara SB, Kaiser UB, Crowley WF Jr: Deciphering genetic disease in the genomic era: the model of GnRH deficiency. Sci Trans Med 2010; 2: 32rv32.
61. Cooper TG, Noonan E, von Eckardstein S et al: World Health Organization reference values for human semen characteristics. Hum Reprod Update 2010; 16: 231-245.
62. Krausz C: Male infertility: pathogenesis and clinical diagnosis. Best Pract Res Clin Endocrinol Metab 2011; 25: 271-285.
63. Tournaye H: Update on surgical sperm recovery-the European view. Hum Fertil (Camb) 2010; 13: 242-246.
64. Stahl PJ, Schlegel PN: Genetic evaluation of the azoospermic or severely oligozoospermic male. Curr Opin Obstet Gynecol 2012; 24: 221-228.
65. Dul EC, Groen H, van Ravenswaaij-Arts CM, Dijkhuizen T, van Echten-Arends J, Land JA: The prevalence of chromosomal abnormalities in subgroups of infertile men. Hum Reprod (Oxford, England) 2012; 27: 36-43.
66. Maiburg M, Repping S, Giltay J: The genetic origin of Klinefelter syndrome and its effect on spermatogenesis. Fertil Steril 2012; 98: 253-260.
67. Herlihy AS, Halliday JL, Cock ML, McLachlan RI: The prevalence and diagnosis rates of Klinefelter syndrome: an Australian comparison. Med J Aust 2011; 194: 24-28.
68. Yarali H, Polat M, Bozdag G et al: TESE-ICSI in patients with non-mosaic Klinefelter syndrome: a comparative study. Reprod Biomed Online 2009; 18: 756-760.
69. Gies I, De Schepper J, Goossens E, Van Saen D, Pennings G, Tournaye H: Spermatogonial stem cell preservation in boys with Klinefelter syndrome: to bank or not to bank, that's the question. Fertil Steril 2012; 98: 284-289.
70. Madan K: Balanced complex chromosome rearrangements: reproductive aspects. A review. Am J Med Genet A 2012; 158A: 947-963.
71. Xu WM, Shi QX, Chen WY et al: Cystic fibrosis transmembrane conductance regulator is vital to sperm fertilizing capacity and male fertility. Proc Natl Acad Sci USA 2007; 104: 9816-9821.
72. Yu J, Chen Z, Ni Y, Li Z: CFTR mutations in men with congenital bilateral absence of the vas deferens (CBAVD): a systemic review and meta-analysis. Hum Reprod (Oxford, England) 2012; 27: 25-35.
73. Daudin M, Bieth E, Bujan L, Massat G, Pontonnier F, Mieusset R: Congenital bilateral absence of the vas deferens: clinical characteristics, biological parameters, cystic fibrosis transmembrane conductance regulator gene mutations, and implications for genetic counseling. Fertil steril 2000; 74: 1164-1174.
74. Tuttelmann F, Werny F, Cooper TG, Kliesch S, Simoni M, Nieschlag E: Clinical experience with azoospermia: aetiology and chances for spermatozoa detection upon biopsy. Int J Androl 2011; 34: 291-298.
75. Schwarzer JU, Schwarz M: Significance of CFTR gene mutations in patients with congenital aplasia of vas deferens with special regard to renal aplasia. Andrologia 2012; 44: 305-307.
76. Simoni M, Tuttelmann F, Gromoll J, Nieschlag E: Clinical consequences of microdeletions of the Y chromosome: the extended Munster experience. Reprod Biomed Online 2008; 16: 289-303. (Pubitemid 351291979)
77. 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)
78. McLachlan RI, O'Bryan MK: Clinical Review#: State of the art for genetic testing of infertile men. J Clin Endocrinol Metab 2010; 95: 1013-1024.
79. 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)
80. Navarro-Costa P, Plancha CE, Goncalves J: Genetic dissection of the AZF regions of the human Y chromosome: thriller or filler for male (in)fertility? J Biomed Biotechnol 2010; 2010: 936569.
81. Rozen SG, Marszalek JD, Irenze K et al: AZFc deletions and spermatogenic failure: a population-based survey of 20,000 Y chromosomes. Am J Hum Genet 2012; 91: 890-896.
82. Patrat C, Bienvenu T, Janny L et al: Clinical data and parenthood of 63 infertile and Y-microdeleted men. Fertil Steril 2010; 93: 822-832.
83. Visser L, Westerveld GH, Korver CM et al: Y chromosome gr/gr deletions are a risk factor for low semen quality. Hum Reprod (Oxford, England) 2009; 24: 2667-2673.
84. Kim HG, Bhagavath B, Layman LC: Clinical manifestations of impaired GnRH neuron development and function. Neurosignals 2008; 16: 165-182. (Pubitemid 351263223)
85. Sato N: Genetics of male hypogonadotropic hypogonadism. Pediatr Endocrinol Rev 2012; 10(Suppl 1): 110-125.
86. Hardelin JP, Dode C: The complex genetics of Kallmann syndrome: KAL1, FGFR1, FGF8, PROKR2, PROK2, et al. Sex Dev 2008; 2: 181-193.
87. Sykiotis GP, Plummer L, Hughes VA et al: Oligogenic basis of isolated gonadotropinreleasing hormone deficiency. Proc Natl Acad Sci USA 2010; 107: 15140-15144.
88. Ferlin A, Vinanzi C, Garolla A et al: Male infertility and androgen receptor gene mutations: clinical features and identification of seven novel mutations. Clin Endocrinol 2006; 65: 606-610. (Pubitemid 44583820)
89. Tuttelmann F, Rajpert-De Meyts E, Nieschlag E, Simoni M: Gene polymorphisms and male infertility-a meta-analysis and literature review. Reprod Biomed Online 2007; 15: 643-658. (Pubitemid 350285979)
90. Kosova G, Scott NM, Niederberger C, Prins GS, Ober C: Genome-wide association study identifies candidate genes for male fertility traits in humans. Am J Hum Genet 2012; 90: 950-961.
91. Hu Z, Xia Y, Guo X et al: A genome-wide association study in Chinese men identifies three risk loci for non-obstructive azoospermia. Nat Genet 2012; 44: 183-186.
92. Perrin A, Coat C, Nguyen MH et al: Molecular cytogenetic and genetic aspects of globozoospermia: a review. Andrologia 2013; 45: 1-9.
93. Molinari E, Mirabelli M, Raimondo S et al: Sperm macrocephaly syndrome in a patient without AURKC mutations and with a history of recurrent miscarriage. Reprod Biomed Online 2013; 26: 148-156.
94. Nakada K, Sato A, Yoshida K et al: Mitochondria-related male infertility. Proc Natl Acad Sci USA 2006; 103: 15148-15153. (Pubitemid 44583179)
95. Tuttelmann F, Simoni M, Kliesch S et al: Copy number variants in patients with severe oligozoospermia and Sertoli-cell-only syndrome. PloS One 2011; 6: e19426.
96. Du Plessis SS, Cabler S, McAlister DA, Sabanegh E, Agarwal A: The effect of obesity on sperm disorders and male infertility. Nat Rev Urol 2010; 7: 153-161.
97. Giwercman A, Rylander L, Lundberg Giwercman Y: Influence of endocrine disruptors on human male fertility. Reprod Biomed Online 2007; 15: 633-642. (Pubitemid 350300996)
98. Merhi ZO: Challenging cell phone impact on reproduction: a review. J Assist Reprod Genet 2012; 29: 293-297.
99. Aston KI, Conrad DF: A review of genome-wide approaches to study the genetic basis for spermatogenic defects. Methods Mol Biol (Clifton, NJ) 2013; 927: 397-410.
100. Zawati MH, Knoppers BM: International normative perspectives on the return of individual research results and incidental findings in genomic biobanks. Genet Med 2012; 14: 484-489.
101. Baker MA, Nixon B, Naumovski N, Aitken RJ: Proteomic insights into the maturation and capacitation of mammalian spermatozoa. Syst Biol Reprod Med 2012; 58: 211-217.
102. Pastuszak AW, Lamb DJ: The genetics of male fertility-from basic science to clinical evaluation. J Androl 2012; 33: 1075-1084.
103. Rantanen E, Hietala M, Kristoffersson U et al: What is ideal genetic counselling? A survey of current international guidelines. Eur J Hum Genet 2008; 16: 445-452. (Pubitemid 351420377)
104. Desmyttere S, De Rycke M, Staessen C et al: Neonatal follow-up of 995 consecutively born children after embryo biopsy for PGD. Hum Reprod (Oxford, England) 2012; 27: 288-293.
105. Pennings G, de Wert G, Shenfield F, Cohen J, Tarlatzis B, Devroey P: ESHRE Task Force on Ethics and Law 13: the welfare of the child in medically assisted reproduction. Hum Reprod (Oxford, England) 2007; 22: 2585-2588. (Pubitemid 47434200)
106. Johnson MH: Robert Edwards: the path to IVF. Reprod Biomed Online 2011; 23: 245-262.
107. American Society of Human Genetics. Genetic counseling. Am J Hum Genet 1975; 27: 240-242.
108. Resta R, Biesecker BB, Bennett RL et al: A new definition of genetic counseling: National Society of Genetic Counselors' Task Force report. J Genet Counsel 2006; 15: 77-83. (Pubitemid 43876101)
109. Skirton H, Lewis C, Kent A, Coviello DA: Genetic education and the challenge of genomic medicine: development of core competences to support preparation of health professionals in Europe. Eur J Hum Genet 2010; 18: 972-977.
110. Skirton H, Patch C, Voelckel MA: Using a community of practice to develop standards of practice and education for genetic counsellors in Europe. J Commun Genet 2010; 1: 169-173.
111. Grace KS, Sinclair KD: Assisted reproductive technology, epigenetics, and long-term health: a developmental time bomb still ticking. Semin Reprod Med 2009; 27: 409-416.
112. McGillivray G, Rosenfeld JA, McKinlay Gardner RJ, Gillam LH: Genetic counselling and ethical issues with chromosome microarray analysis in prenatal testing. Prenat Diagn 2012; 32: 389-395.
113. Castellani C, Cuppens H, Macek M Jr et al: Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice. J Cyst Fibros 2008; 7: 179-196.
114. Johns Hopkins University School of Medicine Baltimore. Clinical and Functional Translation of CFTR (CFTR2). http://www.cftr2.org. Accessed: July 2013.
115. Karatas JC, Barlow-Stewart K, Strong KA, Meiser B, McMahon C, Roberts C: Women's experience of pre-implantation genetic diagnosis: a qualitative study. Prenat Diagn 2010; 30: 771-777.
116. Hershberger PE, Pierce PF: Conceptualizing couples' decision making in PGD: emerging cognitive, emotional, and moral dimensions. Patient Educ Counsel 2010; 81: 53-62.
117. Hershberger PE, Gallo AM, Kavanaugh K, Olshansky E, Schwartz A, Tur-Kaspa I: The decision-making process of genetically at-risk couples considering preimplantation genetic diagnosis: initial findings from a grounded theory study. Soc Sci Med 2012; 74: 1536-1543.
118. Speechley KN, Nisker J: Preimplantation genetic diagnosis in Canada: a survey of Canadian IVF units. J Obstet Gynaecol 2010; 32: 341-347.
119. Harton GL, Magli MC, Lundin K et al: ESHRE PGD Consortium/Embryology Special Interest Group-best practice guidelines for polar body and embryo biopsy for preimplantation genetic diagnosis/screening (PGD/PGS). Hum Reprod (Oxford, England) 2011; 26: 41-46.
120. Xu K, Montag M: New perspectives on embryo biopsy: not how, but when and why? Sem Reprod Med 2012; 30: 259-266.
121. Goossens V, Traeger-Synodinos J, Coonen E et al: ESHRE PGD Consortium data collection XI: cycles from January to December 2008 with pregnancy follow-up to October 2009. Hum Reprod (Oxford, England) 2012; 27: 1887-1911.
122. Kokkali G, Vrettou C, Traeger-Synodinos J et al: Birth of a healthy infant following trophectoderm biopsy from blastocysts for PGD of beta-thalassaemia major. Hum Reprod (Oxford, England) 2005; 20: 1855-1859. (Pubitemid 40932368)
123. McArthur SJ, Leigh D, Marshall JT, de Boer KA, Jansen RP: Pregnancies and live births after trophectoderm biopsy and preimplantation genetic testing of human blastocysts. Fertil Steril 2005; 84: 1628-1636. (Pubitemid 41785655)
124. Youssry M, Ozmen B, Zohni K, Diedrich K, Al-Hasani S: Current aspects of blastocyst cryopreservation. Reprod Biomed Online 2008; 16: 311-320. (Pubitemid 351291982)
125. Harper JC, Sengupta SB: Preimplantation genetic diagnosis: state of the art 2011. Hum Genet 2012; 131: 175-186.
126. Harton GL, De Rycke M, Fiorentino F et al: ESHRE PGD consortium best practice guidelines for amplification-based PGD. Hum Reprod (Oxford, England) 2011; 26: 33-40.
127. Harton GL, Harper JC, Coonen E et al: ESHRE PGD Consortium best practice guidelines for fluorescence in situ hybridization-based PGD. Hum Reprod (Oxford, England) 2011; 26: 25-32.
128. Harper JC, Harton G: The use of arrays in preimplantation genetic diagnosis and screening. Fertil Steril 2010; 94: 1173-1177.
129. Wilton L, Thornhill A, Traeger-Synodinos J, Sermon KD, Harper JC: The causes of misdiagnosis and adverse outcomes in PGD. Hum Reprod (Oxford, England) 2009; 24: 1221-1228.
130. Renwick P, Trussler J, Lashwood A, Braude P, Ogilvie CM: Preimplantation genetic haplotyping: 127 diagnostic cycles demonstrating a robust, efficient alternative to direct mutation testing on single cells. Reprod Biomed Online 2010; 20: 470-476.
131. Fragouli E, Wells D: Aneuploidy in the human blastocyst. Cytogenet Genome Res 2011; 133: 149-159.
132. Gutierrez-Mateo C, Colls P, Sanchez-Garcia J et al: Validation of microarray comparative genomic hybridization for comprehensive chromosome analysis of embryos. Fertil Steril 2011; 95: 953-958.
133. Alfarawati S, Fragouli E, Colls P, Wells D: First births after preimplantation genetic diagnosis of structural chromosome abnormalities using comparative genomic hybridization and microarray analysis. Hum Reprod (Oxford, England) 2011; 26: 1560-1574.
134. Fiorentino F, Spizzichino L, Bono S et al: PGD for reciprocal and Robertsonian translocations using array comparative genomic hybridization. Hum Reprod (Oxford, England) 2011; 26: 1925-1935.
135. Treff NR, Northrop LE, Kasabwala K, Su J, Levy B, Scott RT Jr: Single nucleotide polymorphism microarray-based concurrent screening of 24-chromosome aneuploidy and unbalanced translocations in preimplantation human embryos. Fertil Steril 2011; 95: 1606-1612, e1601-e1602.
136. Handyside AH, Harton GL, Mariani B et al: Karyomapping: a universal method for genome wide analysis of genetic disease based on mapping crossovers between parental haplotypes. J Med Genet 2010; 47: 651-658.
137. Brezina PR, Benner A, Rechitsky S et al: Single-gene testing combined with single nucleotide polymorphism microarray preimplantation genetic diagnosis for aneuploidy: a novel approach in optimizing pregnancy outcome. Fertil Steril 2011; 95: 1786, e1785-e1788.
138. Frith L: Gamete donation and anonymity: the ethical and legal debate. Hum Reprod (Oxford, England) 2001; 16: 818-824.
139. Liang D, Lv W, Wang H et al: Non-invasive prenatal testing of fetal whole chromosome aneuploidy by massively parallel sequencing. Prenat Diagn 2013; 33: 409-415.
140. Wilson KL, Czerwinski JL, Hoskovec JM et al: NSGC Practice Guideline: prenatal screening and diagnostic testing options for chromosome aneuploidy. J Genet Counsel 2012; 22: 4-15.
141. Lemke A, Bick D, Dimmock D, Simpson P, Veith R: Perspectives of clinical genetics professionals toward genome sequencing and incidental findings: a survey study. Clin Genet 2012; 84: 230-236.
142. Pergament E, Pergament D: Reproductive decisions after fetal genetic counselling. Best Pract Res Clin Obstet Gynaecol 2012; 26: 517-529.
143. Geraedts J, Collins J, Gianaroli L et al: What next for preimplantation genetic screening? A polar body approach! Hum Reprod (Oxford, England) 2010; 25: 575-577.
144. Geraedts JP: Does additional hybridization also improve preimplantation genetic screening results? Exp Rev Mol Diagn 2010; 10: 981-985.
145. Harper J, Coonen E, De Rycke M et al: What next for preimplantation genetic screening (PGS)? A position statement from the ESHRE PGD Consortium Steering Committee. Hum Reprod (Oxford, England) 2010; 25: 821-823.
146. Geraedts J, Montag M, Magli MC et al: Polar body array CGH for prediction of the status of the corresponding oocyte. Part I: clinical results. Hum Reprod (Oxford, England) 2011; 26: 3173-3180.
147. Scott Jr RT, Ferry K, Su J, Tao X, Scott K, Treff NR: Comprehensive chromosome screening is highly predictive of the reproductive potential of human embryos: a prospective, blinded, nonselection study. Fertil Steril 2012; 97: 870-875.
148. Harper JC, Wilton L, Traeger-Synodinos J et al: The ESHRE PGD Consortium: ten years of data collection May-Jun; 18: 234-247.
149. Harton G, Braude P, Lashwood A et al: ESHRE PGD consortium best practice guidelines for organization of a PGD centre for PGD/preimplantation genetic screening. Hum Reprod (Oxford, England) 2011; 26: 14-24.
150. Harper JC, Sengupta S, Vesela K et al: Accreditation of the PGD laboratory. Hum Reprod (Oxford, England) 2010; 25: 1051-1065.
151. de Jong A, Dondorp WJ, de Die-Smulders CE, Frints SG, de Wert GM: Non-invasive prenatal testing: ethical issues explored. Eur J Hum Genet 2010; 18: 272-277.
152. Delhanty JD, Griffin DK, Handyside AH et al: Detection of aneuploidy and chromosomal mosaicism in human embryos during preimplantation sex determination by fluorescent in situ hybridisation, (FISH). Hum Mol Genet 1993; 2: 1183-1185. (Pubitemid 23244996)
153. Munne S, Grifo J, Cohen J, Weier HU: Chromosome abnormalities in human arrested preimplantation embryos: a multiple-probe FISH study. Am J Hum Genet 1994; 55: 150-159. (Pubitemid 24242395)
154. Iwarsson E, Lundqvist M, Inzunza J et al: A high degree of aneuploidy in frozenthawed human preimplantation embryos. Hum Genet 1999; 104: 376-382. (Pubitemid 29286793)
155. Hodes-Wertz B, Grifo J, Ghadir S et al: Idiopathic recurrent miscarriage is caused mostly by aneuploid embryos. Fertil Steril 2012; 98: 675-680.
156. Munne S, Sandalinas M, Magli C, Gianaroli L, Cohen J, Warburton D: Increased rate of aneuploid embryos in young women with previous aneuploid conceptions. Prenat Diagn 2004; 24: 638-643. (Pubitemid 39108572)
157. Baart EB, Martini E, van den Berg I et al: Preimplantation genetic screening reveals a high incidence of aneuploidy and mosaicism in embryos from young women undergoing IVF. Hum Reprod (Oxford, England) 2006; 21: 223-233. (Pubitemid 41794315)
158. van Echten-Arends J, Mastenbroek S, Sikkema-Raddatz B et al: Chromosomal mosaicism in human preimplantation embryos: a systematic review. Hum Reprod Update 2011; 17: 620-627.
159. Vanneste E, Voet T, Le Caignec C et al: Chromosome instability is common in human cleavage-stage embryos. Nat Med 2009; 15: 577-583.
160. Vanneste E, Bittman L, Van der Aa N, Voet T, Vermeesch JR: New array approaches to explore single cells genomes. Front Genet 2012; 3: 44.
161. Voullaire L, Collins V, Callaghan T, McBain J, Williamson R, Wilton L: High incidence of complex chromosome abnormality in cleavage embryos from patients with repeated implantation failure. Fertil Steril 2007; 87: 1053-1058. (Pubitemid 46659952)
162. Wells D, Delhanty JD: Comprehensive chromosomal analysis of human preimplantation embryos using whole genome amplification and single cell comparative genomic hybridization. Mol Hum Reprod 2000; 6: 1055-1062.
163. Daphnis DD, Fragouli E, Economou K et al: Analysis of the evolution of chromosome abnormalities in human embryos from Day 3 to 5 using CGH and FISH. Mol Hum Reprod 2008; 14: 117-125. (Pubitemid 351321172)
164. Rius M, Obradors A, Daina G et al: Detection of unbalanced chromosome segregations in preimplantation genetic diagnosis of translocations by short comparative genomic hibridization. Fertil Steril 2011; 96: 134-142.
165. Voet T, Vanneste E, Van der Aa N et al: Breakage-fusion-bridge cycles leading to inv dup del occur in human cleavage stage embryos. Hum Mutat 2011; 32: 783-793.
166. Spencer TE, Palmarini M: Application of next generation sequencing in
167. Navin N, Kendall J, Troge J et al: Tumour evolution inferred by single-cell sequencing. Nature 2011; 472: 90-94.
168. Dondorp WJ, de Wert GM: The 'thousand-dollar genome': an ethical exploration. Eur J Hum Genet 2013; 21(Suppl 1): S6-S26.
169. Dondorp W, de Wert G: Innovative reproductive technologies: risks and responsibilities. Hum Reprod (Oxford, England) 2011; 26: 1604-1608.
170. Pennings G, Mertes H: Ethical issues in infertility treatment. Best Pract Res Clin Obstet Gynaecol 2012; 26: 853-863.
171. Seneca S, Morris MA, Patton S, Elles R, Sequeiros J: Experience and outcome of 3 years of a European EQA scheme for genetic testing of the spinocerebellar ataxias. Eur J Hum Genet 2008; 16: 913-920.
172. Patton SJ, Wallace AJ, Elles R: Benchmark for evaluating the quality of DNA sequencing: proposal from an international external quality assessment scheme. Clin Chem 2006; 52: 728-736.
173. Touitou I, Rittore C, Philibert L, Yague J, Shinar Y, Aksentijevich I: An international external quality assessment for molecular diagnosis of hereditary recurrent fevers: a 3-year scheme demonstrates the need for improvement. Eur J Hum Genet 2009; 17: 890-896.
174. Berwouts S, Fanning K, Morris MA, Barton DE, Dequeker E: Quality assurance practices in Europe: a survey of molecular genetic testing laboratories. Eur J Hum Genet 2012; 20: 1118-1126.
175. Hastings RJ, Maher EJ, Quellhorst-Pawley B, Howell RT: An Internet-based external quality assessment in cytogenetics that audits a laboratory's analytical and interpretative performance. Eur J Hum Genet 2008; 16: 1217-1224.
176. International Organization for Standardization-ISO 9001 2008; http://www.iso.org/iso/catalogue-detail?csnumber=46486. Accessed: July 2013.
177. Camajova J, Berwouts S, Matthijs G, Macek Jr M, Dequeker E: Variability in the use of CE-marked assays for in vitro diagnostics of CFTR gene mutations in European genetic testing laboratories. Eur J Hum Genet 2009; 17: 537-540.
178. Mattocks CJ, Morris MA, Matthijs G et al: A standardized framework for the validation and verification of clinical molecular genetic tests. Eur J Hum Genet 2010; 18: 1276-1288.
179. Corveleyn A, Morris MA, Dequeker E et al: Provision and quality assurance of preimplantation genetic diagnosis in Europe. Eur J Hum Genet 2008; 16: 290-299. (Pubitemid 351305687)
180. Eurogentest2 Concerted Action. www.eurogentest.org. Accessed: July 2013
181. Dequeker E, Stuhrmann M, Morris MA et al: Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders-updated European recommendations. Eur J Hum Genet 2009; 17: 51-65.
182. Council of Europe. Recommendation CM/Rec(2010)11 of the Committee of Ministers to member states on the impact of genetics on the organisation of health care services and training of health professionals. https://wcd.coe.int/ ViewDoc. jsp?id=1660977&Site=COE. Accessed: July 2013.
183. Hunter DJ, Khoury MJ, Drazen JM: Letting the genome out of the bottle-will we get our wish? N Engl J Med 2008; 358: 105-107.
184. European Academies of Science Advisory Council and Federation of European Academies of Medicine. Direct-to-consumer genetic testing 2012; http://www.easac. eu/fileadmin/PDF-s/reports-statements/Easac-12-DTCGT-Lay-Web. pdf. Accessed: July 2013.
185. Borry P, Howard H: DTC genetic services: a look across the pond. Am J Bioethics 2008; 8: 14-16.
186. Su Y, Howard HC, Borry P: Users' motivations to purchase direct-to-consumer genome-wide testing: an exploratory study of personal stories. J Commun Genet 2011; 2: 135-146.
187. Greenbaum D, Du J, Gerstein M: Genomic anonymity: have we already lost it? Am J Bioethics 2008; 8: 71-74.
188. Schadt EE: The changing privacy landscape in the era of big data. Mol Syst Biol 2012; 8: 612.
189. Abbott A: Genome test slammed for assessing 'racial purity'. Nature 2012; 486: 167.
190. Borry P, Henneman L, Lakeman P, ten Kate LP, Cornel MC, Howard HC: Preconceptional genetic carrier testing and the commercial offer directly-to-consumers. Hum Reprod (Oxford, England) 2011; 26: 972-977.
191. Lakeman P, Plass AM, Henneman L, Bezemer PD, Cornel MC, ten Kate LP: Three-month follow-up of Western and non-Western participants in a study on preconceptional ancestry-based carrier couple screening for cystic fibrosis and hemoglobinopathies in the Netherlands. Genet Med 2008; 10: 820-830.
192. American College of Medical Genetics and Genomics. www.acmg.net. Accessed: July 2013.
193. American College of Obstetricians and Gynecologists. http://www.acog.org/ . Accessed: July 2013.
194. Watson MS, Cutting GR, Desnick RJ et al: Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel. Genet Med 2004; 6: 387-391. (Pubitemid 39310514)
195. Castellani C, Macek Jr M, Cassiman JJ et al: Benchmarks for cystic fibrosis carrier screening: a European consensus document. J Cyst Fibros 2010; 9: 165-178.
196. European Society of Human Genetics. Population genetic screening programmes: technical, social and ethical issues. Eur J Hum Genet 2003; 11(Suppl 2): S5-S7.
197. Health Council of the Netherlands Advisory report-Screening: between hope and hype 2008; http://www.gezondheidsraad.nl/sites/default/files/200805E-0.pdf. Accessed: July 2013.
198. Borry P, Howard HC, Senecal K, Avard D: Direct-to-consumer genome scanning services. Also for children? Nat Rev Genet 2009; 10: 8.
199. Borry P, Howard HC, Senecal K, Avard D: Health-related direct-to-consumer genetic testing: a review of companies' policies with regard to genetic testing in minors. Fam Cancer 2010; 9: 51-59.
200. Howard HC, Avard D, Borry P: Are the kids really all right? Direct-to-consumer genetic testing in children: are company policies clashing with professional norms? Eur J Hum Genet 2011; 19: 1122-1126.
201. European Society of Human Genetics. Genetic testing in asymptomatic minors: recommendations of the European Society of Human Genetics. Eur J Hum Genet 2009; 17: 720-721.
202. Lee SS, Crawley L: Research 2.0: social networking and direct-to-consumer (DTC) genomics. Am J Bioethics 2009; 9: 35-44.
203. The Family Tree DNA: Richard Hill's Story 2012; http://www.familytreedna. com/landing/richard-hill.aspx. Accessed: July 2013.
204. Stories From 23andMe Blog: 'Hey, Bro' 2011; http://blog.23andme.com/ 23andmecustomer-stories/stories-from-23andme-neil-schwartzman/. Accessed: July 2013.
205. Sauer JL: Competing interests and gamete donation: the case for anonymity. Seton Hall Law Rev 2009; 39: 919-954.
206. Yuan GC: Linking genome to epigenome. Wiley Interdisc Rev Syst Biol Med 2012; 4: 297-309.
207. Jablonka E, Raz G: Transgenerational epigenetic inheritance: prevalence, mechanisms, and implications for the study of heredity and evolution. Quarter Rev Biol 2009; 84: 131-176.
208. van Montfoort AP, Hanssen LL, de Sutter P, Viville S, Geraedts JP, de Boer P: Assisted reproduction treatment and epigenetic inheritance. Hum Reprod Update 2012; 18: 171-197.
209. Feng S, Jacobsen SE, Reik W: Epigenetic reprogramming in plant and animal development. Science (New York, NY) 2010; 330: 622-627.
210. Khosla S, Dean W, Brown D, Reik W, Feil R: Culture of preimplantation mouse embryos affects fetal development and the expression of imprinted genes. Biol Reprod 2001; 64: 918-926. (Pubitemid 32174065)
211. Young LE, Fernandes K, McEvoy TG et al: Epigenetic change in IGF2R is associated with fetal overgrowth after sheep embryo culture. Nat Genet 2001; 27: 153-154. (Pubitemid 32157439)
212. Velker BA, Denomme MM, Mann MR: Embryo culture and epigenetics. Methods Mol Biol (Clifton, NJ) 2012; 912: 399-421.
213. Dumoulin JC, Land JA, Van Montfoort AP et al: Effect of in vitro culture of human embryos on birthweight of newborns. Hum Reprod (Oxford, England) 2010; 25: 605-612.
214. Le Bouc Y, Rossignol S, Azzi S, Steunou V, Netchine I, Gicquel C: Epigenetics, genomic imprinting and assisted reproductive technology. Ann Endocrinol 2010; 71: 237-238.
215. Doherty AS, Mann MR, Tremblay KD, Bartolomei MS, Schultz RM: Differential effects of culture on imprinted H19 expression in the preimplantation mouse embryo. Biol Reprod 2000; 62: 1526-1535. (Pubitemid 30333732)
216. 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: 349-354. (Pubitemid 40221787)
217. Sutcliffe AG, Peters CJ, Bowdin S et al: Assisted reproductive therapies and imprinting disorders-a preliminary British survey. Hum Reprod (Oxford, England) 2006; 21: 1009-1011.
218. Doornbos ME, Maas SM, McDonnell J, Vermeiden JP, Hennekam RC: Infertility, assisted reproduction technologies and imprinting disturbances: a Dutch study. Hum Reprod (Oxford, England) 2007; 22: 2476-2480. (Pubitemid 47289064)
219. Lidegaard O, Pinborg A, Andersen AN: Imprinting diseases and IVF: Danish National IVF cohort study. Hum Reprod (Oxford, England) 2005; 20: 950-954. (Pubitemid 40674198)
220. Odom LN, Segars J: Imprinting disorders and assisted reproductive technology. Curr Opin Endocrinol Diabetes Obes 2010; 17: 517-522.
221. Khoury MJ, Holtzman NA: On the ability of birth defects monitoring to detect new teratogens. Am J Epidemiol 1987; 126: 136-143. (Pubitemid 17117700)
222. Mittendorf R: Teratogen update: carcinogenesis and teratogenesis associated with exposure to diethylstilbestrol (DES) in utero. Teratology 1995; 51: 435-445.
223. Reefhuis J, Honein MA, Schieve LA, Correa A, Hobbs CA, Rasmussen SA: Assisted reproductive technology and major structural birth defects in the United States. Hum Reprod (Oxford, England) 2009; 24: 360-366.
224. Finnstrom O, Kallen B, Lindam A, Nilsson E, Nygren KG, Olausson PO: Maternal and child outcome after in vitro fertilization-a review of 25 years of population-based data from Sweden. Acta Obstet Gynecol Scand 2011; 90: 494-500.
225. Sunderam S, Kissin DM, Flowers L et al: Assisted reproductive technology surveillance-United States, 2009. MMWR Surveill Summ 2012; 61: 1-23.
226. Ben-David U, Kopper O, Benvenisty N: Expanding the boundaries of embryonic stem cells. Cell Stem Cell 2012; 10: 666-677.
227. Tiscornia G, Vivas EL, Izpisua Belmonte JC: Diseases in a dish: modeling human genetic disorders using induced pluripotent cells. Nat Med 2011; 17: 1570-1576.
228. Seriola A, Spits C, Simard JP et al: Huntington's and myotonic dystrophy hESCs: down-regulated trinucleotide repeat instability and mismatch repair machinery expression upon differentiation. Hum Mol Genet 2011; 20: 176-185.
229. Liu GH, Ding Z, Izpisua Belmonte JC: iPSC technology to study human aging and aging-related disorders. Curr Opin Cell Biol 2012; 24: 765-774.
230. Spits C, Mateizel I, Geens M et al: Recurrent chromosomal abnormalities in human embryonic stem cells. Nat Biotechnol 2008; 26: 1361-1363.
231. Van Haute L, Spits C, Geens M, Seneca S, Sermon K: Human embryonic stem cells commonly display large mitochondrial DNA deletions. Nat Biotechnol 2013; 31: 20-23.
232. Amps K, Andrews PW, Anyfantis G et al: Screening ethnically diverse human embryonic stem cells identifies a chromosome 20 minimal amplicon conferring growth advantage. Nat Biotechnol 2011; 29: 1132-1144.
233. Zhang Y, Yao L, Yu X, Ou J, Hui N, Liu S: A poor imitation of a natural process: A call to reconsider the iPSC engineering technique. Cell Cycle (Georgetown, TX) 2012; 11: 4536-4544.
234. Council of Europe. Background document on preimplantation and prenatal genetic testing 2011; http://www.coe.int/t/dg3/healthbioethic/Source/INF-2010-6- dpidpn-en.pdf. Accessed: July 2013.
235. Mayhew SH, Gerein N, Green A, Cleland J: Improving health systems and enhancing reproductive health: linkages and lessons for action. Health Policy Plan 2004; 19(Suppl 1): i1-i4. (Pubitemid 44810648)
236. Hassan MA, Killick SR: Negative lifestyle is associated with a significant reduction in fecundity. Fertil Steril 2004; 81: 384-392. (Pubitemid 38223921)
237. Ekelin M, Akesson C, Angerud M, Kvist LJ: Swedish high school students' knowledge and attitudes regarding fertility and family building. Reprod Health 2012; 9: 6.
238. Schmidt L, Sobotka T, Bentzen JG, Nyboe Andersen A: Demographic and medical consequences of the postponement of parenthood. Hum Reprod Update 2012; 18: 29-43.
239. van den Akker OB: Adoption in the age of reproductive technology. J Reprod Infant Psychol 2001; 19: 147-159.
240. European Commission.25 Recommendations on the ethical, legal and social implications of genetic testing 2004; http://ec.europa.eu/research/conferences/ 2004/genetic/pdf/recommendations-en.pdf. Accessed: July 2013.
241. Connolly MP, Ledger W, Postma MJ: Economics of assisted reproduction: access to fertility treatments and valuing live births in economic terms. Hum Fertil (Cambridge, England) 2010; 13: 13-18.
242. Quigley M: A right to reproduce? Bioethics 2010; 24: 403-411.
243. Chan CC, Ho PC: Infertility, assisted reproduction and rights. Best Pract Res Clin Obstet Gynaecol 2006; 20: 369-380. (Pubitemid 44103591)
244. Birenbaum-Carmeli D, Dirnfeld M: In vitro fertilisation policy in Israel and women's perspectives: the more the better? Reprod Health Matters 2008; 16: 182-191. (Pubitemid 351753016)
245. Grant JHS, Gallo F, Cave J: A Preliminary Assessment of the Demographic and Economic Impact of Assisted Reproductive Technologies. RAND Corporation: Santa Monica, California, 2006.
246. Mladovsky P, Sorenson C: Public financing of IVF: a review of policy rationales. Health Care Anal 2010; 18: 113-128.
247. Daniels N: Just Health Care. Studies in Philosophy and Health Policy. Cambridge University Press: Cambridge/New York, 1985.
248. Dondorp W, de Wert G, Pennings G et al: Lifestyle-related factors and access to medically assisted reproduction. Hum Reprod (Oxford, England) 2010; 25: 578-583.
249. United Kingdom Government. Human Fertilisation and Embryology Act 2008; http://www.legislation.gov.uk/ukpga/2008/22/contents. Accessed: July 2013.
250. Pennings G: Measuring the welfare of the child: in search of the appropriate evaluation principle. Hum Reprod (Oxford, England) 1999; 14: 1146-1150. (Pubitemid 29224880)
251. van Rij M, de Die-Smulders C, Bijlsma E et al: Evaluation of exclusion prenatal and exclusion preimplantation genetic diagnosis for Huntington's disease in the Netherlands. Clin Genet 2013; 83: 118-124.
252. De Wert G: Ethics of preimplantation genetic diagnosis: the case of preimplantation genetic diagnosis; In: BCJM Fauser et al: (eds) Molecular Biology in Reproductive Medicine. Parthenon: New York/London, 1999; pp 433-450.
253. De Wert G: Preimplantation genetic testing: normative reflections; In: Harper J (ed) Preimplantation Genetic Diagnosis. Cambridge University Press: Cambridge, 2009; pp 259-273.
254. Tuffs A: Germany allows restricted access to preimplantation genetic testing. BMJ 2011; 343: d4425.
255. Habermas J: The Future of Human Nature. Polity Press: Cambridge, 2003.
256. Dondorp W, De Wert G, Pennings G et al: ESHRE Task Force on ethics and Law 20: sex selection for non-medical reasons. Hum Reprod (Oxford, England) 2013; 28: 1448-1454.
257. Geraedts JP, De Wert GM: Preimplantation genetic diagnosis. Clin Genet 2009; 76: 315-325.
258. Shenfield F: [Preimplantation genetic diagnosis in order to choose a saviour sibling]. Gynecol Obstet Fertil 2005; 33: 833-834. (Pubitemid 41354230)
259. de Wert G: Preimplantation genetic diagnosis: the ethics of intermediate cases. Hum Reprod (Oxford, England) 2005; 20: 3261-3266.
260. Wertz DC, Knoppers BM: Serious genetic disorders: can or should they be defined? Am J Med Genet 2002; 108: 29-35.
261. Bredenoord AL, Pennings G, Smeets HJ, de Wert G: Dealing with uncertainties: ethics of prenatal diagnosis and preimplantation genetic diagnosis to prevent mitochondrial disorders. Hum Reprod Update 2008; 14: 83-94.
262. Poulton J, Kennedy S, Oakeshott P, Wells D: Preventing transmission of maternally inherited mitochondrial DNA diseases. BMJ 2009; 338: b94.
263. Bredenoord AL, Krumeich A, De Vries MC, Dondorp W, De Wert G: Reproductive decision-making in the context of mitochondrial DNA disorders: views and experiences of professionals. Clin Genet 2010; 77: 10-17.
264. Nuffield Council on Bioethics: Novel techniques for the prevention of mitochondrial DNA disorders: an ethical review. Nuffield Council on Bioethics: London, 2012.
265. de Wert G, Dondorp W, Pennings G et al: Intrafamilial medically assisted reproduction. Hum Reprod (Oxford, England) 2011; 26: 504-509.
266. Bredenoord AL, Dondorp W, Pennings G, De Wert G: Ethics of modifying the mitochondrial genome. J Med Ethics 2011; 37: 97-100.
267. Council of Europe. Convention for the protection of Human Rights and Dignity of the Human Being with regard to the Application of Biology and Medicine: Convention on Human Rights and Biomedicine CETS No.: 164 1997; http://conventions.coe.int/Treaty/Commun/QueVoulezVous.asp?NT=164&CL=ENG. Accessed: July 2013.
268. The Hinxton Group. International Consortium on Stem Cells, Ethics & Law: Consensus Statement: Science, Ethics and Policy Challenges of Pluripotent Stem Cell-Derived Gametes 2008; http://www.hinxtongroup.org/Consensus-HG08- FINAL.pdf. Accessed: July 2013.
269. Omurtag K, Jimenez PT, Ratts V, Odem R, Cooper AR: The ART of social networking: how SART member clinics are connecting with patients online. Fertil Steril 2012; 97: 88-94.
270. Lagan BM, Sinclair M, Kernohan WG: What is the impact of the Internet on decisionmaking in pregnancy? A global study. Birth (Berkeley, CA) 2011; 38: 336-345.
271. Morris JK: Is cascade testing a sensible method of population screening? J Med Screen 2004; 11: 57-58. (Pubitemid 38829881)
272. Newson AJ, Humphries SE: Cascade testing in familial hypercholesterolaemia: how should family members be contacted? Eur J Hum Genet 2005; 13: 401-408. (Pubitemid 40520929)
273. Hofman N, Tan HL, Alders M, van Langen IM, Wilde AA: Active cascade screening in primary inherited arrhythmia syndromes: does it lead to prophylactic treatment? J Am Coll Cardiol 2010; 55: 2570-2576.
274. De Wert GM, Dondorp WJ, Knoppers BM: Preconception care and genetic risk: ethical issues. J Commun Genet 2012; 3: 221-228.
275. Bell CJ, Dinwiddie DL, Miller NA et al: Carrier testing for severe childhood recessive diseases by next-generation sequencing. Sci Trans Med 2011; 3: 65ra64.
276. Clarke A, Thirlaway K: Genetic counselling for personalised medicine. Hum Genet 2011; 130: 27-31.
277. Practice Committee of American Society for Reproductive Medicine and Practice Committee of Society for Assisted Reproductive Technology. Recommendations for gamete and embryo donation: a committee opinion. Fertil Steril 2013; 99: 47-62.
278. Daar JF, Brzyski RG: Genetic screening of sperm and oocyte donors: ethical and policy implications. J Am Med Assoc 2009; 302: 1702-1704.
279. Maron BJ, Lesser JR, Schiller NB, Harris KM, Brown C, Rehm HL: Implications of hypertrophic cardiomyopathy transmitted by sperm donation. J Am Med Assoc 2009; 302: 1681-1684.
280. Sims CA, Callum P, Ray M, Iger J, Falk RE: Genetic testing of sperm donors: survey of current practices. Fertil Steril 2010; 94: 126-129.
281. Hens K, Dondorp W, Handyside AH et al: Dynamics and ethics of comprehensive preimplantation genetic testing: a review of the challenges. Hum Reprod Update 2013; 19: 366-375.
282. Handyside AH, Xu K: Preimplantation genetic diagnosis comes of age. Semin Reprod Med 2012; 30: 255-258.
283. Sandel M: The Case Against Perfection: Ethics in the Age of Genetic Engineering. Belknap Press: Cambridge, MA, USA, 2007.
284. Savulescu J, Kahane G: The moral obligation to create children with the best chance of the best life. Bioethics 2009; 23: 274-290.
285. German Parliament. Gendiagnostikgesetz vom 31. Juli 2009 (BGBl. I S. 2529, 3672). http://www.gesetze-im-internet.de/bundesrecht/gendg/gesamt.pdf. Accessed: July 2013.
286. European Commission Directive 2011/24/EU of the European Parliament and of the Council of 9 March 2011 on the application of patients' rights in cross-border healthcare. http://eur-lex.europa.eu/LexUriServ/LexUriServ.do?uri= OJ: L:2011:088:0045:0065:EN:PDF. Accessed: July 2013.
287. Metzler I: On why states still matter: in vitro fertilzation embryos between laboratories and state authorities in Italy; In: Vermeulen NTS, Webster A (eds) Bio-objects: Life in the 21st Century. Ashgate: United Kingdom, 2012.
288. The Nordic Committee on Bioethics and The Norwegian Biotechnology Advisory Board. Summary of Conference: Prenatal Diagnosis-Individuals and Society 2010; http://ncbio.org/nordisk/arkiv/oslo-summary-final.pdf. Accessed: July 2013.
289. Haddow JEPG: ACCE: a model process for evaluating data on emerging genetic tests; In: Khoury MLJ, Burke W (eds) Human Genome Epidemiology: A Scientific Foundation for Using Genetic Information to Improve Health and Prevent Disease. Oxford University Press, 2003; pp 217-233.
290. Centers for Diseases Control of the United States of America. ACCE Model Process for Evaluating Genetic Testing 2004; http://www.cdc.gov/genomics/ gtesting/ACCE/index.htm. Accessed: July 2013.
291. Greely HT: Get ready for the flood of fetal gene screening. Nature 2011; 469: 289-291.
292. European Court of Human Rights 2012; http://www.echr.coe.int/. Accessed: July 2013.
293. Council of Europe. European Convention of Human Rights 2010; http://www.echr. coe.int/Documents/Convention-ENG.pdf. Accessed: July 2013.
294. Van Hoof W, Pennings G: The consequences of S.H. and Others v. Austria for legislation on gamete donation in Europe: an ethical analysis of the European Court of Human Rights judgments. Reprod Biomed Online 2012; 25: 665-669.
295. European Court of Human Rights. Judgement in the Case of S.H. and Others v. Austria (Application no. 57813/00) 2011; http://hudoc.echr.coe.int/sites/eng/ pages/search.aspx?i=001-107325#{%22itemid%22:[%22001-107325%22]}. Accessed: July 2013.
296. Mason JK, Laurie GT: The management of infertility and childlessness; In: Mason & McCall Smith's Law and Medical Ethics, 7th Edn, Oxford University Press: Oxford, UK, 2006; pp 309-318.