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  • Print publication year: 2014
  • Online publication date: April 2014

9 - Genetic counseling and gamete donation in assisted reproductive treatment


1.Online Mendelian Inheritance in Man (OMIM) #602421. Cystic fibrosis transmembrane conductance regulator; CFTR. Updated 6/20/2012:
2. PinskerJE.Clincal review: Turner syndrome: updating the paradigm of clinical care. J Clin Endocrinology Metab 2012;97: 994–1003.
3. SkirtonH, PatchC. Genetics for Healthcare Professionals. A Lifestage Approach. Oxford, UK: BIOS Scientific, 2002.
4. Ad Hoc Committee on Genetic Counseling American Society for Human Genetics. Genetic counseling. Am J Hum Genet 1975; 27: 240–2.
5. BieseckerBB, PetersKF. Process studies in genetic counseling: peering into the black box. Am J Hum Genet 2001; 106: 191–8.
6. McAllisterM, WoodAM, DunnG, ShilohS, ToddC. The Genetic Counseling Outcome Scale: a new patient-reported outcome measure for clinical genetic services. Clin Genet 2011; 79: 413–24.
7. HarperPS.Practical Genetic Counselling, 6th edn. London, UK: Arnold, 2004.
8. SparksS, QuijanoS, HarperAet al. Congenital muscular dystrophy overview. Last revision August 23, 2012. In GeneReviews [Internet]. NCBI bookshelf:
9. ParadisoA, FormentiS. Hereditary breast cancer: clinical features and risk reduction strategies. Ann Oncol 2011; 22(Suppl 1): i31–6.
10.Online Mendelian Inheritance in Man (OMIM) #310200. Muscular dystrophy, duchenne type; DMD. Last updated 8/5/2012:
11. GardnerRJ, SutherlandGR. Chromosome Abnormalities and Genetic Counselling, 3rd edition. Oxford, UK: Oxford University Press, 2004.
12. MarteauTM, Kidd J, Cook R et al. Perceived risk not actual risk predicts uptake of amniocentesis. Br J Obstet Gynaecol 1991; 98: 282–6.
13. McAllisterM.Personal theories of inheritance, coping strategies, risk perception and engagement in hereditary non-polyposis colon cancer families offered genetic testing. Clin Genet 2003; 64: 179–89.
14. Pilarski, R.Risk perception among women at risk for hereditary breast and ovarian cancer. J Genet Couns 2009; 18: 303–12.
15. HopwoodP, HowellA, LallooF, EvansG. Do women understand the odds? Risk perceptions and recall of risk information in women with a history of breast cancer. Community Genet 2003; 6: 214–23.
16. MarteauTM, SaidiG, GoodburnSet al. Numbers or words? A randomized controlled trial presenting screen negative results to pregnant women. Prenat Diagn 2000; 20: 714–8.
17. UK Newborn Screening Programme Centre. Why do we offer and recommend newborn blood spot screening? May 2012 update:
18. BorryP, van HellemondtRE, SprumontDet al. Legislation on direct to consumer genetic testing in seven European countries. Eur J Hum Genet 2012; 20: 715–21.
19. Human Genetics Commission. A common framework of principles for direct-to-consumer genetic testing services, July 2010:
20. Roberta A, Pagon, StephenP Daiger. Retinitis pigmentosa overview. Last update, September 2005. In GeneReviews [Internet]. NCBI bookshelf:
21. JamesCA, HadleyDW, HoltzmanNA, WinkelsteinJA. How does the mode of inheritance of a genetic condition influence families? A study of guilt, blame, stigma, and understanding of inheritance and reproductive risks in families with X-linked and autosomal recessive diseases. Genet Med 2006; 8: 234–42.
22.Online Mendelain Inheritance in Man (OMIM) #143100. Huntington disease; HD. Last updated 1/12/
24. MacleodR, TibbenA, FrontaliMet al. Recommendations for the predictive genetic test in Huntington’s disease. Clin Genet 2013; 83: 221–31.
25. BorryP.Genetic testing in asymptomatic minors: recommendations of the European Society of Human Genetics. Eur J Hum Genet 2009; 17: 720–1.
26. British Society of Human Genetics. Report on the Genetic Testing of Children 2010:
27. The American Society of Human Genetics Social Issues Committee and The American College of Medical Genetics Social, Ethics and Legal Issues Committee. Genetic testing in adoption. Am J Hum Genet 2000; 66: 761–7.
28. NewsonAJ, LeonardSJ. Childhood testing for familial cancer: should adoption make a difference? Fam Cancer 2010; 9: 37–42.
29. ParkerM.Genetic testing in children and young people. Fam Cancer 2010; 9: 15–8.
30. KerstingA, WagnerB. Complicated grief after perinatal loss. Dialogues Clin Neurosci 2012; 14: 187–94.
31. White-Van MourikMC, ConnorJM, Ferguson-SmithMA. The psychosocial sequelae of a second trimester termination of pregnancy for fetal abnormality over a two year period. Birth Defects Orig Artic Ser 1992; 28: 61–74.
32. KorenrompMJ, Page-ChristiaensGC, van den BoutJet al. Psychological consequences of termination of pregnancy for fetal anomaly: similarities and differences between partners. Prenat Diagn 2005; 25: 1226–33.
33. HuntK, FranceE, ZieblandS, FiledK, WykeS. “My brain couldn’t move from planning a birth to planning a funeral”: qualitative study of parents’ experiences of decisions after ending a pregnancy for fetal abnormality. Int J Nurs Stud 2009; 46: 1111–21.
34. FisherJ.Termination of pregnancy for fetal abnormality: the perspective of a parent support organization. Reprod Health Matters 2008; 16(Suppl): 57–65.
35. RappR.Testing Women, Testing the Fetus. The Social Impact of Amniocentesis in America. New York, NY: Routledge, 2000.
36. McCoydJL.“I’m not a saint.”: Burden assessment as an unrecognised factor in prenatal decision making. Qual Health Res 2008; 18: 1489–500.
37.Online Mendelain Inheritance in Man (OMIM) #162200. Neurofibromatosis, type 1; NF1. Last updated 3/18/2010:
38. DecruyenaereM, Evers-KieboomsG, BoogaertsAet al. The complexity of reproductive decision-making in asymptomatic carriers of the Huntington mutation, Eur J Hum Genet 2007; 15: 453–62.
39. PergamentE, PergamentD. Reproductive decisions after fetal genetic counseling. Best Pract Res Clin Obstet Gynaecol 2012; 26: 517–29.
40.Antenatal Results and Choices:
41.A Heartbreaking Choice:
42. HickertonCL, AitkenM, HodgsonJ, DelatyckiMB. “Did you find that out in time?”: New life trajectories of parents who choose to continue a pregnancy where a genetic disorder is diagnosed or likely. Am J Med Genet A 2012; 158A: 373–83.
43. LoYM, CorbettaN, ChamberlainPFet al. Presence of fetal DNA in maternal plasma and serum. Lancet 1997; 350: 485–7.
44. HillM, BarrettAN, WhiteH, ChittyLS. Uses of cell free fetal DNA in maternal circulation. Best Pract Res Clin Obstet Gynaecol 2012; 26: 639–54.
45. LiaoGJ, ChiuRW, LoYM. Prenatal assessment of fetal chromosomal and genetic disorders through maternal plasma DNA analysis. Pathology 2012; 44: 69–72.
46. CollinsSL, ImpneyL. Prenatal diagnosis: types and techniques. Early Hum Develop 2012; 88: 3–8.
47. PalombaML, MonniG, LaiRet al. Psychological implications and acceptability of preimplantation diagnosis. Hum Reprod 1994; 9: 360–2.
48. PergamentE.Preimplantation diagnosis: a patient perspective. Prenat Diagn 1991; 11: 493–500.
49. FarraC, NassarAH, UstaIMet al. Acceptance of preimplantation genetic diagnosis for beta-thalassemia in Lebanese women with previously affected children. Prenat Diagn 2008; 28: 828–32.
50. SnowdenC, GreenJM. Preimplantation diagnosis and other reproductive options: attitudes of male and female carriers of recessive disorders. Hum Reprod 1997; 12: 341–50.
51.Online Mendelain Inheritance in Man (OMIM) #160900. Myotonic Dystrophy 1; DM1. Last updated 2/5/2012:
52. BrockSC.Narrative and medical genetics: on ethics and therapeutics. Quality of Health Research 1995; 5: 150–68.
53. FaulknerCL, KingstonHM. Knowledge, views, and experience of 25 women with myotonic dystrophy. J Med Genet 1998; 35: 1020–5.
54. WisemanM, DancygerC, MichieS. Communicating genetic risk information within families: a review. Fam Cancer 2010; 9: 691–703.
55. GalloAM, AngstDB, KnafiKA. Disclosure of genetic information within families. Am J Nurs 2009; 109: 65–9.
56. ClarkeA, RichardsM, HallidayJet al. Genetic professional reports of non disclosure of genetic risk information within families. Eur J Hum Genet 2005; 13: 556–62.
57. TibbenA, FretsP, van de KampJet al. On attitudes and appreciation 6 months after predictive DNA testing for Huntington’s disease in the Dutch program. Am J Med Genet B Neuropsychiatr Genet 1993; 43: 103–11.
58. MurakamiY, GondoN, OkamuraH, AkechiT, UchitomiY. Guilt from negative genetic test findings. Am J Psychiatry 2001; 158: 1929.
59. FordD, EastonDF, StrattonMet al. Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The Breast Cancer Linkage Consortium. Am J Hum Genet 1998; 62: 676–89.
60. WapnerRJ, DriscollDA, SimpsonJL. Integration of microarray technology into prenatal diagnosis: counselling issues generated during the NICHD clinical trial. Prenat Diagn 2012; 32: 396–400.
61. van der MeerLB, van DuijnE, WolterbeekR, TibbenA. Adverse childhood experiences of persons at risk for Huntington’s disease or BRCA1/2 hereditary breast/ovarian cancer. Clin Genet 2012; 81: 18–23.
62. ShermanJK.Synopsis of the use of frozen human semen since 1964: state of the art of human semen banking. Fertil Steril 1973; 24: 397–412.
63. ChengM. “Fertility treatment bans in Europe draw criticism.” Associated Press, April 13, 2012:
64. KleinJU, SauerMV. Ethics in egg donation: past, present, and future. Semin Reprod Med 2010; 28: 322–8.
65. ArmourKL.An overview of surrogacy around the world: trends, questions and ethical issues. Nurs Womens Health 2012; 16: 231–6.
66.Human Fertilisation and Embryology Authority. Payments for donors:
68. HengBC.Legal and ethical issues in the international transaction of donor sperm and eggs. J Assist Reprod Genet 2007; 24: 107–9.
69. SimsCA, CallumP, RayM, IgerJ, FalkRE.Genetic testing of sperm donors: survey of current practices. Fertil Steril 2010; 94: 126–9.
70. MaronBJ, LesserJR, SchillerNBet al. Implications of hypertrophic cardiomyopathy transmitted by sperm donation. JAMA 2009; 302: 1681–4.
71. DaarJF, BrzyskiRG. Genetic screening of sperm and oocyte donors. Ethical and policy implications. JAMA 2009; 302: 1702–4.
72. ReadingsJ, BlakeL, CaseyP, JadvaV, GolombokS. Secrecy, disclosure and everything in-between: decisions of parents of children conceived by donor insemination, egg donation and surrogacy. Reprod Biomed Online 2011; 22: 485–95.
73. IsakssonS, SydsjöG, SkoogSvanberg A, LampicC. Disclosure behaviour and intentions among 111 couples following treatment with oocytes or sperm from identity-release donors: follow-up at offspring age 1–4 years. Hum Reprod 2012; 27: 2998–3007.
74. DanielsKR, GraceVM, GillettWR. Factors associated with parents’ decisions to tell their adult offspring about the offspring’s donor conception. Hum Reprod 2011; 26: 2783–90.
75. GolombokS, ReadingsJ, BlakeLet al. Children conceived by gamete donation: psychological adjustment and mother–child relationships at age 7. J Fam Psychol 2011; 25:230–9.
76. Donor Conception Network. Telling and Talking Workshops: