Literature DB >> 26174937

Non-invasive Prenatal Diagnosis for BRCA Mutations - a Qualitative Pilot Study of Health Professionals' Views.

Jade Bennett1, Lyn Chitty2,3, Celine Lewis4.   

Abstract

Non-invasive prenatal diagnosis (NIPD) is a rapidly advancing approach that allows diagnostic testing based on analysis of cell free DNA in maternal plasma. This study aimed to explore the views of health professionals regarding the use of NIPD for BRCA1/2 mutations. Qualitative semi-structured interviews were conducted with eight participants. Whilst participants viewed NIPD in general as a positive step forward in prenatal testing, they were cautious about its use for BRCA testing. Significant ethical concerns emerged regarding testing prenatally for an adult onset condition, that is not fully penetrant, and the possibility of abrogating the rights of the future child to genetic autonomy. Nevertheless, participants did identify some situations whereby the test might be beneficial, such as for individuals with very negative and traumatic personal experiences of cancer desiring reassurance or wanting to prevent passing on the condition. NIPD was also seen as having benefits over invasive testing and pre-implantation genetic diagnosis, the only other options currently available to test prenatally for this condition. Exploring the views of a wider range of clinical specialties as well as patients at risk of hereditary breast cancer would be beneficial.

Entities:  

Keywords:  BRCA testing; Cell-free fetal DNA; Non-invasive prenatal diagnosis; Qualitative

Mesh:

Year:  2015        PMID: 26174937     DOI: 10.1007/s10897-015-9858-0

Source DB:  PubMed          Journal:  J Genet Couns        ISSN: 1059-7700            Impact factor:   2.537


  32 in total

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Authors:  L S Chitty; D R Griffin; C Meaney; A Barrett; A Khalil; E Pajkrt; T J Cole
Journal:  Ultrasound Obstet Gynecol       Date:  2011-02-01       Impact factor: 7.299

2.  Non-invasive prenatal testing: ethical issues explored.

Authors:  Antina de Jong; Wybo J Dondorp; Christine E M de Die-Smulders; Suzanne G M Frints; Guido M W R de Wert
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3.  Will the introduction of non-invasive prenatal diagnostic testing erode informed choices? An experimental study of health care professionals.

Authors:  Ananda van den Heuvel; Lyn Chitty; Elizabeth Dormandy; Ainsley Newson; Zuzana Deans; Sophie Attwood; Shelley Haynes; Theresa M Marteau
Journal:  Patient Educ Couns       Date:  2009-06-26

Review 4.  Understanding and evaluating qualitative research.

Authors:  Ellie Fossey; Carol Harvey; Fiona McDermott; Larry Davidson
Journal:  Aust N Z J Psychiatry       Date:  2002-12       Impact factor: 5.744

5.  Genome-wide fetal aneuploidy detection by maternal plasma DNA sequencing.

Authors:  Diana W Bianchi; Lawrence D Platt; James D Goldberg; Alfred Z Abuhamad; Amy J Sehnert; Richard P Rava
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6.  Noninvasive prenatal diagnosis: pregnant women's interest and expected uptake.

Authors:  Reana Tischler; Louanne Hudgins; Yair J Blumenfeld; Henry T Greely; Kelly E Ormond
Journal:  Prenat Diagn       Date:  2011-10-26       Impact factor: 3.050

7.  Digital PCR analysis of maternal plasma for noninvasive detection of sickle cell anemia.

Authors:  Angela N Barrett; Thomas C R McDonnell; K C Allen Chan; Lyn S Chitty
Journal:  Clin Chem       Date:  2012-03-26       Impact factor: 8.327

8.  DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as Down syndrome: an international collaborative study.

Authors:  Glenn E Palomaki; Cosmin Deciu; Edward M Kloza; Geralyn M Lambert-Messerlian; James E Haddow; Louis M Neveux; Mathias Ehrich; Dirk van den Boom; Allan T Bombard; Wayne W Grody; Stanley F Nelson; Jacob A Canick
Journal:  Genet Med       Date:  2012-02-02       Impact factor: 8.822

9.  Views and preferences for the implementation of non-invasive prenatal diagnosis for single gene disorders from health professionals in the United Kingdom.

Authors:  Melissa Hill; Madhavi Karunaratna; Celine Lewis; Frida Forya; Lyn Chitty
Journal:  Am J Med Genet A       Date:  2013-05-21       Impact factor: 2.802

10.  BRCA1/2 carriers: their childbearing plans and theoretical intentions about having preimplantation genetic diagnosis and prenatal diagnosis.

Authors:  Claire Julian-Reynier; Roxane Fabre; Isabelle Coupier; Dominique Stoppa-Lyonnet; Christine Lasset; Olivier Caron; Emmanuelle Mouret-Fourme; Pascaline Berthet; Laurence Faivre; Marc Frenay; Paul Gesta; Laurence Gladieff; Anne-Deborah Bouhnik; Christel Protière; Catherine Noguès
Journal:  Genet Med       Date:  2012-01-12       Impact factor: 8.822

View more
  1 in total

1.  Danish Sonographers' Experiences of the Introduction of "Moderate Risk" in Prenatal Screening for Down Syndrome.

Authors:  Anne Møller; Ida Vogel; Olav Bjørn Petersen; Stina Lou
Journal:  J Pregnancy       Date:  2018-10-09
  1 in total

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