Skip to main content

A Woman with a Positive Prenatal Test on Trisomy 21: Counseling in Prenatal Diagnosis

  • Chapter
  • First Online:
Bio-Psycho-Social Obstetrics and Gynecology

Abstract

Trisomy 21 is the most prevalent numeric or structural chromosomal aberration. Nowadays, prenatal tests for screening and diagnosing trisomy 21, as well as some other chromosomal aberrations, exist. The existence of prenatal tests allows, but at the same time forces, pregnant women to make decisions and choices. Ethically delicate questions arise such as the value of unborn life, the value of a life of a child with a mental handicap, and the consideration about pros and cons regarding the impact on the parents’ life. The complexity of the situation affords comprehensive information and counseling by health professionals previous to any prenatal testing, but especially when a chromosomal aberration or major fetal malformation is suspected or diagnosed. The decision whether to terminate pregnancy or not is very much dependent on the individual evaluation of the couples concerned. A nonjudgmental and nondirective approach especially during the shared decision-making process is of utmost importance. Thereafter, health professionals are confronted with the challenging task to provide support and meet the specific needs of those couples that decide to terminate and those that carry out pregnancy. This support should include not only follow-up visits after delivery but also special care during a next pregnancy, which is generally experienced as highly stressful.

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 129.00
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD 169.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

References

  1. Patterson D. Molecular genetic analysis of down syndrome. Hum Genet. 2009;126(1):195–214.

    Article  CAS  PubMed  Google Scholar 

  2. Weijerman ME, de Winter JP. Clinical practice. The care of children with down syndrome. Eur J Pediatr. 2010;169(12):1445–52.

    Article  PubMed  PubMed Central  Google Scholar 

  3. Lammens M, ten Donkelaar HJ, van Vugt J, van Noort G, Willemsen M, Hamel B. Causes of congenital malformations. Clinical neuroembryology. Berlin/Heidelberg: Springer; 2006. p. 97–143.

    Google Scholar 

  4. Alfirevic Z, Sundberg K, Brigham S. Amniocentesis and chorionic villus sampling for prenatal diagnosis. Cochrane Database Syst Rev. [Review]. 2003;3:CD003252.

    Google Scholar 

  5. Scott F, Peters H, Boogert T, Robertson R, Anderson J, McLennan A, et al. The loss rates for invasive prenatal testing in a specialised obstetric ultrasound practice. Aust N Z J Obstet Gynaecol. [Comparative Study]. 2002;42(1):55–8.

    Google Scholar 

  6. Gasiorek-Wiens A, Tercanli S, Kozlowski P, Kossakiewicz A, Minderer S, Meyberg H, et al. Screening for trisomy 21 by fetal nuchal translucency and maternal age: a multicenter project in Germany, Austria and Switzerland. Ultrasound Obstet Gynecol. 2001;18(6):645–8.

    Article  CAS  PubMed  Google Scholar 

  7. Kagan KO, Wright D, Baker A, Sahota D, Nicolaides KH. Screening for trisomy 21 by maternal age, fetal nuchal translucency thickness, free beta-human chorionic gonadotropin and pregnancy-associated plasma protein-A. Ultrasound Obstet Gynecol. 2008;31(6):618–24.

    Article  CAS  PubMed  Google Scholar 

  8. Tercanli S, Holzgreve W, Batukan C, Gerber A, Ermis H, Miny P. Screening for aneuploidy by first trimester nuchal translucency measurement: results from a prospective trial including 1980 cases in a single center in Switzerland. Ultraschall Med. 2002;23(1):22–6.

    Article  CAS  PubMed  Google Scholar 

  9. Wong BC, Lo YM. Cell-free DNA and RNA in plasma as new tools for molecular diagnostics. Expert Rev Mol Diagn. [Research Support, Non-U.S. Gov’t Review]. 2003;3(6):785–97.

    Google Scholar 

  10. Benn P, Cuckle H, Pergament E. Non-invasive prenatal diagnosis for down syndrome: the paradigm will shift, but slowly. Ultrasound Obstet Gynecol. 2012;39(2):127–30.

    Article  CAS  PubMed  Google Scholar 

  11. Chitty LS. Ultrasound screening for fetal abnormalities. Prenat Diagn. 1995;15(13):1241–57.

    Article  CAS  PubMed  Google Scholar 

  12. Beauchamp TL, Childress JF. Principles biomedical ethics. 5th ed. Oxford: Oxford University Press; 2001.

    Google Scholar 

  13. WHO. Congenital anomalies. 2014; Available from: http://www.who.int/mediacentre/factsheets/fs370/en/.

  14. Gotzmann L, Romann C, Schonholzer SM, Klaghofer R, Zimmermann R, Buddeberg C. Communication competence in ultrasound examination in pregnancy. Gynakol Geburtshilfliche Rundsch. 2001;41(4):215–22.

    Article  CAS  PubMed  Google Scholar 

  15. Miller WR, Rollnick S. Motivational interviewing: preparing people for change. New York: Guilford Press; 2002.

    Google Scholar 

  16. Rogers C, Farson R. Active listening. In: Kolb D, Rubin I, MacIntyre J, editors. Organizational psychology. 3rd ed. Englewood: Prentice Hall; 1979.

    Google Scholar 

  17. Tschudin S, Holzgreve W, Conde N, Alder J, Bitzer J, Tercanli S. Pregnant women’s assessment and level of knowledge of prenatal counseling. Ultraschall Med. 2009;30(2):157–62.

    Article  CAS  PubMed  Google Scholar 

  18. Tschudin S, Huang D, Mor-Gultekin H, Alder J, Bitzer J, Tercanli S. Prenatal counseling–implications of the cultural background of pregnant women on information processing, emotional response and acceptance. Ultraschall Med. [Comparative Study]. 2011;32(Suppl 2):E100–107.

    Google Scholar 

  19. Hughes P, Riches S. Psychological aspects of perinatal loss. Curr Opin Obstet Gynecol. 2003;15(2):107–11.

    Article  PubMed  Google Scholar 

  20. Kersting A, Wagner B. Complicated grief after perinatal loss. Dialogues Clin Neurosci. 2012;14(2):187–94.

    PubMed  PubMed Central  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to Sibil Tschudin MD .

Editor information

Editors and Affiliations

Rights and permissions

Reprints and permissions

Copyright information

© 2017 Springer International Publishing Switzerland

About this chapter

Cite this chapter

Tschudin, S., Verhaak, C. (2017). A Woman with a Positive Prenatal Test on Trisomy 21: Counseling in Prenatal Diagnosis. In: Paarlberg, K., van de Wiel, H. (eds) Bio-Psycho-Social Obstetrics and Gynecology. Springer, Cham. https://doi.org/10.1007/978-3-319-40404-2_5

Download citation

  • DOI: https://doi.org/10.1007/978-3-319-40404-2_5

  • Published:

  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-319-40402-8

  • Online ISBN: 978-3-319-40404-2

  • eBook Packages: MedicineMedicine (R0)

Publish with us

Policies and ethics