Journal of Community Genetics

, Volume 9, Issue 3, pp 315–325 | Cite as

Reproductive decision making: interviews with mothers of children with undiagnosed developmental delay

Original Article

Abstract

Reproductive decision making is complex and personal. Having a child with undiagnosed developmental delay can further complicate these decisions, as recurrence risks are unknown. This qualitative study is an exploration of the experiences of parents who have a child with an undiagnosed developmental disorder, focusing on their reproductive decisions. The aims of the research were to explore the reproductive decision making process and examine the factors that influence these decisions. Data were collected from in-depth semi-structured interviews with five mothers of children without a diagnosis. Transcripts were analysed using an interpretative phenomenological analysis. Analysis identified five factors that were considered by participants when contemplating reproductive decisions: future uncertainty, perceptions of risk, the potential impact a child would have on their current children, expectations of a family and the desire for another child. Being aware of the factors that influence reproductive decisions for these mothers and being sensitive to them can enable genetic counsellors to carry out their role more effectively, as they are aware of the factors that need to be discussed and explored before a decision is made.

Keywords

Developmental delay Reproductive decisions Diagnosis Undiagnosed Genetic counselling 

Notes

Compliance with ethical standards

Conflict of interest

Emily Pond and Rebecca Dimond declare that they have no conflict of interest.

All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2000 (5).

Informed consent

Informed consent was obtained from all individual participants included in the study.

References

  1. Boardman F (2014) Experiential knowledge of disability, impairment and illness: the reproductive decisions of families genetically at risk. Health 18(5):476–492.  https://doi.org/10.1177/1363459313507588 CrossRefPubMedGoogle Scholar
  2. Decruyenaere M, Evers-Kiebooms G, Boogaerts A, Philippe K, Demyttenaere K, Dom R, Vandenberghe W, Fryns JP (2007) The complexity of reproductive decision-making in asymptomatic carriers of the Huntington mutation. Eur J Hum Genet 15(4):453–462.  https://doi.org/10.1038/sj.ejhg.5201774 CrossRefPubMedGoogle Scholar
  3. Donnelly LS, Watson M, Moynihan C, Bancroft E, Evans DGR, Eeles R, Lavery S, Ormondroyd E (2013) Reproductive decision-making in young female carriers of a BRCA mutation. Hum Reprod 28(4):1006–1012.  https://doi.org/10.1093/humrep/des441 CrossRefPubMedGoogle Scholar
  4. Downing C (2002). Reproductive decision-making in families at risk for Huntington’s disease: perceptions of responsibility. An unpublished dissertation submitted to the University of Cambridge for the Degree of Doctor of PhilosophyGoogle Scholar
  5. Downing C (2005) Negotiating responsibility: case studies of reproductive decision-making and prenatal genetic testing in families facing Huntington disease. J Genet Couns 14(3):219–234.  https://doi.org/10.1007/s10897-005-0619-3 CrossRefPubMedGoogle Scholar
  6. Finlay L, Gough B (2003) Reflexivity: a practical guide for researchers in health and social sciences, 1st edn. Blackwell Science, Oxford.  https://doi.org/10.1002/9780470776094 CrossRefGoogle Scholar
  7. Frets PG, Duivenvoorden HJ, Verhage F, Peters-Romeyn BMT, Niermeijer MF (1991) Analysis of problems in making the reproductive decision after genetic counselling. J Med Genet 28(3):194–200.  https://doi.org/10.1136/jmg.28.3.194 CrossRefPubMedPubMedCentralGoogle Scholar
  8. Graungaard AH, Skov L (2006) Why do we need a diagnosis? A qualitative study of parents’ experiences, coping and needs, when the newborn child is severely disabled. Child Care Health Dev 33(3):296–307CrossRefGoogle Scholar
  9. Haynes K (2012) Chapter 5: reflexivity in qualitative research. In: Symon G, Cassell C (eds) Qualitative organizational research: core methods and current challenges. Sage Publications, London, pp 72–89.  https://doi.org/10.4135/9781526435620.n5 CrossRefGoogle Scholar
  10. Kay E, Kingston H (2002) Feelings associated with being a carrier and characteristics of reproductive decision making in women known to be carriers of X-linked conditions. J Health Psychol 7(2):169–181.  https://doi.org/10.1177/1359105302007002456 CrossRefPubMedGoogle Scholar
  11. Lee SM, Nam HW, Kim EN, Shin DW, Moon HJ, Jeong JY, Kim SA, Kim BJ, Lee SK, Jun JK (2013) Pregnancy-related knowledge, risk perception, and reproductive decision making of women with epilepsy in Korea. Seizure 22(10):834–839.  https://doi.org/10.1016/j.seizure.2013.07.002 CrossRefPubMedGoogle Scholar
  12. Lenhard W, Breitenbach E, Ebert H, Schindelhauer-Deutscher HJ, Hen W (2005) Psychological benefit of diagnostic certainty for mothers of children with disabilities: Lessons from down syndrome. Am J Med Genet 133A:170–175CrossRefPubMedGoogle Scholar
  13. Lewis C, Skirton H, Jones R (2010) Living without a diagnosis: the parental experience. Genet Test Mol Biomarkers 14(6):807–815.  https://doi.org/10.1089/gtmb.2010.0061 CrossRefPubMedGoogle Scholar
  14. Lewis C, Skirton H, Jones R (2012) Development of an evidence-based information booklet to support parents of children without a diagnosis. J Genet Couns 21:854–861CrossRefPubMedGoogle Scholar
  15. Lionel AC,Costain G, Monfared N, Walker S, Reuter MS, Hosseini SM et al (2017) Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test. Genet Med [Online]. Available at: http://www.nature.com/gim/journal/vaop/ncurrent/full/gim2017119a.html [accessed: 29th October 2017]
  16. Lippman-Hand A, Fraser FC (1979) Genetic counseling—the postcounseling period: II. Making reproductive choices. Am J Med Genet 4:73–87CrossRefPubMedGoogle Scholar
  17. Makela NL, Birch PH, Friedman JM, Marra CA (2009) Parental perceived value of a diagnosis for intellectual disability (ID): a qualitative comparison of families with and without a diagnosis for their child’s ID. Am J Med Genet A 149A:2393–2402CrossRefPubMedGoogle Scholar
  18. McLaughlin J, Clavering E, Haimes E, and Wright M (2011) Genetic journeys: key findings from a study of the experiences of families referred to paediatric genetics. Policy, Ethics and Life Sciences Research Centre, Newcastle University. Available at: http://www.ncl.ac.uk/peals/assets/publications/Peals-ResearchReportA5spreads.pdf [Accessed 3/07/2015]
  19. Myring J, Beckett W, Jassi R, Roberts T, Sayers R, Scotcher D, McAllister M (2011) Shock, adjust, decide: reproductive decision making in cystic fibrosis (CF) carrier couples—a qualitative study. J Genet Couns 20(4):404–417.  https://doi.org/10.1007/s10897-011-9363-z CrossRefPubMedGoogle Scholar
  20. Peters KF, Kong K, Hanslo M, Biesecker BB (2002) Living with Marfan syndrome III. Quality of life and reproductive planning. Clin Genet 62(2):110–120.  https://doi.org/10.1034/j.1399-0004.2002.620203.x CrossRefPubMedGoogle Scholar
  21. Rosenthal ET, Biesecker LG, Biesecker BB (2001) Parental attitudes toward a diagnosis in children with unidentified multiple congenital anomaly syndromes. Am J Med Genet 103(2):106–114.  https://doi.org/10.1002/ajmg.1527 CrossRefPubMedGoogle Scholar
  22. Roulston K (2010) Reflective interviewing: a guide to theory and practice. Sage Publications, London.  https://doi.org/10.4135/9781446288009 CrossRefGoogle Scholar
  23. Shiloh S, Gerad L, Goldman B (2006) The facilitating role of information provided in genetic counseling for counselees’ decisions. Genetics in Medicine 8(2):116–124.  https://doi.org/10.1097/01.gim.0000196823.50502.a4 CrossRefPubMedGoogle Scholar
  24. Smith JA, Osborn M (2008) Interpretative phenomenological analysis. In: Smith J (ed) Qualitative psychology: a practical guide to research methods, 2nd edn. Sage, London, pp 53–80Google Scholar

Copyright information

© Springer-Verlag GmbH Germany, part of Springer Nature 2018

Authors and Affiliations

  1. 1.Wessex Clinical Genetic Service, Princess Ann HospitalUniversity Hospital Southampton NHS Foundation TrustSouthamptonUK
  2. 2.School of MedicineCardiff UniversityCardiffUK
  3. 3.School of Social SciencesCardiff UniversityCardiffUK

Personalised recommendations