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Difficult decisions in prenatal diagnosis

  • Chapter
Prenatal Diagnosis

Abstract

Decisions in prenatal diagnosis are difficult when the diagnosis is clear. How much more difficult it is when there is only a risk of abnormality, or where the effects of the abnormality cannot be predicted. This chapter will explore some of these situations, the ways in which couples come to a decision and the role of the counsellor in helping them to decide.

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References

  • Clarke, A. (1991) Is non-directive genetic counselling possible? Lancet, ii, 998–1001.

    Article  Google Scholar 

  • Clayton-Smith, J., Andrews, T. and Donnai, D. (1989) Genetic counselling and parental decisions following antenatal diagnosis of sex chromosome aneuploidies. Journal of Obstetrics and Gynaecology, 10, 5–7.

    Article  Google Scholar 

  • Connor, J.M. (1986) Prenatal diagnosis of the Turner syndrome; what to tell the parents. British Medical Journal, 293, 711–712.

    Article  PubMed  CAS  Google Scholar 

  • Cross, J. and Guyer, M. (1980) Social Traps, University of Michigan Press, Ann Arbor, MI.

    Google Scholar 

  • Dean, H. (1991) Growth hormone therapy in girls with Turner syndrome, in Children and Young Adults with Sex Chromosome Aneuploidy, (eds J.A. Evans, J.L. Hammerton and A. Robinson), Wiley-Liss for the National Foundation-March of Dimes, New York, pp. 239–234.

    Google Scholar 

  • Donnai D. (1989) The clinical significance of de novo structural rearrangements and markers detected prenatally by amniocentesis. Journal of Medical Genetics, 26, 545.

    Article  Google Scholar 

  • Drugan, A., Greb, A., Johnson, M.P. et al. (1990) Determinants of parental decisions to abort for chromosome abnormalities. Prenatal Diagnosis, 10, 483–490.

    Article  PubMed  CAS  Google Scholar 

  • Editorial (1988) Klinefelter’s syndrome. Lancet, ii, 1316–1317.

    Google Scholar 

  • Egan, G. (1986) The Skilled Helper, Brooks/Cole, California

    Google Scholar 

  • Evans, J.A., MacDonald, K. and Hammerton, J.L. (1990) Sex chromosome anomalies: prenatal diagnosis and the need for continued prospective studies, in Children and Young Adults with Sex Chromosome Aneuploidy, (eds J.A. Evans, J.L. Hammerton and A. Robinson), Wiley-Liss for the National Foundation-March of Dimes, New York, pp. 273–281.

    Google Scholar 

  • Falek, A. (1984) Sequential aspects of coping and other issues in decision making in genetic counselling, in Psychological Aspects of Genetic Counselling, (eds A.E.H. Emery and I.M. Pullen), Academic Press, London, pp. 23–36.

    Google Scholar 

  • Frets, P.G., Duivenvoorden, H.J., Verhage, F. et al. (1990) Factors influencing the reproductive decision after genetic counselling. American Journal of Medical Genetics, 35, 496–502.

    Article  PubMed  CAS  Google Scholar 

  • Gardner, R.J.M. and Sutherland, G.R. (1989) Chromosome Abnormalities and Genetic Counselling, Oxford Monographs on Medical Genetics 17, Oxford University Press, Oxford, p. 193.

    Google Scholar 

  • Gosden, C.M., Nicolaides, K.H. and Rodeck, C.H. (1988) Fetal blood sampling in investigation of chromosome mosaicism in amniotic fluid cell culture. Lancet, i, 613–617.

    Article  Google Scholar 

  • Holmes-Seidle, M., Ryyanen, M. and Lindenbaum, R.H. (1987) Parental decisions regarding termination of pregnancy following prenatal detection of sex chromosome abnormality. Prenatal Diagnosis, 7, 239–244.

    Article  Google Scholar 

  • Hsu, L.Y.F. (1986) Prenatal diagnosis of chromosome abnormalities, in Genetic Disorders and the Fetus, (ed. A. Milunsky), 2nd edn, Plenum Press, New York.

    Google Scholar 

  • Hsu, L.Y.F., Kaffe, S., Jenkins, E.C. et al. (1992) Proposed guidelines for diagnosis of chromosome mosaicism in amniocytes based on data derived from chromosome mosaicism and pseudomosaicism studies. Prenatal Diagnosis, 12, 555–573.

    Article  PubMed  CAS  Google Scholar 

  • Jacobs, P. (1974) Correlation between euploid structural rearrangements and mental subnormality in humans. Nature, 249, 164–165.

    Article  PubMed  CAS  Google Scholar 

  • Janis, J. and Mann, L. (1977) Decision Making: a Psychological Analysis of Conflict, Choice and Commitment, Free Press, New York.

    Google Scholar 

  • Kessler, S. and Levine, E.K. (1987) Psychological aspects of genetic counselling 4. The subjective assessment of probability. American Journal of Medical Genetics, 28, 361–370.

    Article  PubMed  CAS  Google Scholar 

  • Leonard, M.F. (1990) A prospective study of development of children with sex chromosome abnormalities, in Children and Young Adults with Sex Chromosome Aneuploidy, (eds J.A. Evans, J.L. Hammerton and A. Robinson), Wiley-Liss for the National Foundation-March of Dimes, New York, pp. 117–130.

    Google Scholar 

  • Linden, M.G., Bender, B.G. and Harmon, R.J. (1988) 47, XXX: what is the prognosis? Pediatrics, 82(4), 619–630.

    PubMed  CAS  Google Scholar 

  • Lippman-Hand, A. and Fraser, F.C. (1979) Genetic counselling — the post counselling period: 1. Parents’ perceptions of uncertainty. American Journal of Medical Genetics, 4, 51–71.

    Article  PubMed  CAS  Google Scholar 

  • Miller, B.L. (1981) Hastings Centre Report, 11(4), 22–28.

    Article  CAS  Google Scholar 

  • Nielsen, J., Wohlert, M., Faaborg-Andersen, J. et al. (1986) Chromosome examination of 20, 222 newborn children: results from a 7.5 year study in Arhus, Denmark, in Prospective Studies in Children with Sex Chromosome Aneuploidy, (eds S.G. Ratcliffe and N. Paul), Wiley-Liss for the National Foundation-March of Dimes, New York, pp. 209–219.

    Google Scholar 

  • Parsons, E.P. (1993) Genetic risk and reproduction. Sociological Review, 41(4).

    Google Scholar 

  • Parsons, E.P. and Atkinson, P.A. (1992) Lay construction of genetic risk. Sociology of Health and Illness, 14(4), 437–455.

    Article  Google Scholar 

  • Pembrey, M. (1991) Non-directive genetic counselling. Lancet, ii, 1266–1267.

    Google Scholar 

  • Puck, M.H. (1981) Some considerations bearing on the doctrine of self-fulfilling prophesy in sex chromosome aneuploidy. American Journal of Medical Genetics, 9, 129–137.

    Article  PubMed  CAS  Google Scholar 

  • Ratcliffe, S.G., Butler, G.E. and James, M. (1990) Edinburgh study of growth and development of children with sex chromosome abnormalities: IV, in Children and Young Adults with Sex Chromosome Aneuploidy, (eds J.A. Evans, J.L. Hammerton and A. Robinson), Wiley-Liss for the National Foundation-March of Dimes, New York, pp. 1–44.

    Google Scholar 

  • Robinson, A., Bender, B.G., Linden, M.G. et al. (1990) Sex chromosome aneuploidy: the Denver prospective study, in Children and Young Adults with Sex Chromosome Aneuploidy, (eds J.A. Evans, J.L. Hammerton and A. Robinson), Wiley-Liss for the National Foundation-March of Dimes, New York, pp. 59–115.

    Google Scholar 

  • Robinson, A., Bender, B.G. and Linden, M.G. (1992) Prognosis of prenatally diagnosed children with sex chromosome aneuploidy. American Journal of Medical Genetics, 44, 365–368.

    Article  PubMed  CAS  Google Scholar 

  • Seller, M., Barnes, C., Ross, S. et al. (1993) Grief and mid-trimester fetal loss. Prenatal Diagnosis, 13, 341–348.

    Article  PubMed  CAS  Google Scholar 

  • Serhal, P.F. and Craft, I.L. (1989) Oocyte donation in 60 patients. Lancet, i, 1185–1187.

    Article  Google Scholar 

  • Tannenbaum, H.L., Perlis, T.E., Arbeitel, B.E. and Hsu, L.Y.F. (1986) Analysis of decision to continue or terminate pregnancies diagnosed with sex chromosome abnormalities by severity of prognosis, socio-economic level and sex of the fetus. American Journal of Human Genetics, 39, 183A.

    Google Scholar 

  • Tyler, A., Quarrell, O.J.W., Lazarou, L.P. et al. (1990) Exclusion testing in pregnancy for Huntington’s disease. Journal of Medical Genetics, 27, 488–495.

    Article  PubMed  CAS  Google Scholar 

  • Verp, M.S., Bombard, A.T., Simpson, J.L. et al. (1988) Parental decision following prenatal diagnosis of fetal chromosome anomalies. American Journal of Medical Genetics, 29, 613–622.

    Article  PubMed  CAS  Google Scholar 

  • Verschraegen-Spae, M.R., Van Roy, N., De Perdigo, A. et al. (1993) Molecular cytogenetic characterization of marker chromosomes found at prenatal diagnosis. Prenatal Diagnosis, 13, 385–394.

    Article  PubMed  CAS  Google Scholar 

  • Vleck, C. (1987) Risk assessment, risk perception and decision making about courses of action involving genetic risk: an overview of concepts and methods, in Genetic Risk, Risk Perception and Decision Making, (eds G. Evers-Kiebooms, J. Cassiman, H. Van den Berghe and G. d’Ydewalle), Wiley-Liss for the National Foundation-March of Dimes, New York, pp. 209–225.

    Google Scholar 

  • Warburton, D. (1991) De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: clinical significance and distribution of breakpoints. American Journal of Human Genetics, 49, 995–1013.

    PubMed  CAS  Google Scholar 

  • Zarin, D.A. and Pauker, S.G. (1984) Decision analysis as a basis for medical decision making: the tree of Hippocrates. Journal of Medicine and Philosophy, 9, 181–213.

    Article  PubMed  CAS  Google Scholar 

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Authors
  1. Christine Garrett
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  2. Lyn Carlton
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Editor information

Editors and Affiliations

  1. Queen Charlotte’s and Chelsea Hospital, London, UK

    Lenore Abramsky (Genetic Counsellor) (Genetic Counsellor)

  2. North West Thames Regional Health Authority, London, UK

    Jean Chapple (Consultant in Obstetric and Perinatal Epidemiology) (Consultant in Obstetric and Perinatal Epidemiology)

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© 1994 Springer Science+Business Media Dordrecht

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Garrett, C., Carlton, L. (1994). Difficult decisions in prenatal diagnosis. In: Abramsky, L., Chapple, J. (eds) Prenatal Diagnosis. Springer, Boston, MA. https://doi.org/10.1007/978-1-4899-3027-9_6

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  • DOI: https://doi.org/10.1007/978-1-4899-3027-9_6

  • Publisher Name: Springer, Boston, MA

  • Print ISBN: 978-0-412-55360-8

  • Online ISBN: 978-1-4899-3027-9

  • eBook Packages: Springer Book Archive

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