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Journal of Genetic Counseling

, Volume 23, Issue 6, pp 1012–1021 | Cite as

Client Views and Attitudes to Non-Invasive Prenatal Diagnosis for Sickle Cell Disease, Thalassaemia and Cystic Fibrosis

  • Melissa Hill
  • Cecilia Compton
  • Madhavi Karunaratna
  • Celine Lewis
  • Lyn Chitty
Original Research

Abstract

In the near future the availability of non-invasive prenatal diagnosis (NIPD) for single gene disorders will change the prenatal diagnosis options available to couples who are carriers of conditions such as cystic fibrosis, sickle cell disorder and thalassaemia. Client opinions about NIPD are needed to inform the implementation of NIPD for single gene disorders. This qualitative study used two focus groups (n = 12) and one-to-one interviews (n = 16) with carriers and support group representatives of sickle cell disease, thalassaemia and cystic fibrosis. Discussions were digitally recorded, transcribed verbatim and analysed using thematic analysis. Opinions about NIPD were very positive and participants valued the opportunity to have safe and early testing. Uptake of prenatal testing is likely to increase as women who had previously declined invasive testing expressed interest in having NIPD. Participant concerns about NIPD centred on the need for accuracy to be high to be used for subsequent decision making about termination of pregnancy. Participants also raised concerns that less thought may be given to having a blood test compared to an invasive test and that the perceived ease of a blood test may bring increased pressure to have testing. Participants thought NIPD should be offered through existing specialist services to ensure appropriate genetic counseling and support. Maintaining all testing options is important as some people may prefer invasive testing over NIPD if invasive testing was more accurate or if invasive testing could give information about other conditions such as Down syndrome.

Keywords

Non-invasive prenatal diagnosis Cell-free fetal DNA Single gene disorders Genetic counseling Decision-making 

Notes

Acknowledgments

We are grateful to everyone who was interviewed or took part in a focus group as part of this study. We thank Dagmar Tapon and Tina Prendeville at Queen Charlotte’s & Chelsea Hospital, London, Bernadette Farren at Great Ormond Street Hospital NHS Foundation Trust and Sahar Mansour, Eleanor Lindahl and Yvonne Muwalo at St George’s Healthcare Trust for their help with recruitment. This manuscript presents independent research funded by the National Institute for Health Research (NIHR) under the Programme Grants for Applied Research programme (RP-PG-0707-10107) (the “RAPID” project) and the Central and East London NIHR Comprehensive Local Research Network. LSC is partially funded the Great Ormond Street Hospital Children’s Charity and the NIHR Biomedical Research Centre at Great Ormond Street Hospital. The views expressed are those of the authors and not necessarily those of the NHS, the NIHR or the Department of Health.

Conflict of Interest

Melissa Hill, Cecilia Compton, Madhavi Karunaratna, Celine Lewis and Lyn S Chitty declare that they have no conflict of interest.

Informed Consent

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. Informed consent was obtained from all patients for being included in the study.

Human and Animal Rights

No animal or human studies were carried out by the authors for this article.

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Copyright information

© National Society of Genetic Counselors, Inc. 2014

Authors and Affiliations

  • Melissa Hill
    • 1
    • 4
  • Cecilia Compton
    • 2
  • Madhavi Karunaratna
    • 2
  • Celine Lewis
    • 3
  • Lyn Chitty
    • 1
    • 2
  1. 1.Clinical and Molecular GeneticsInstitute of Child Health and Great Ormond Street Hospital NHS Foundation TrustLondonUK
  2. 2.Fetal Medicine UnitUniversity College London Hospitals NHS Foundation TrustLondonUK
  3. 3.Genetic Alliance UKLondonUK
  4. 4.Great Ormond Street Hospital NHS Foundation TrustLondonUK

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