Literature DB >> 23188047

Non-invasive prenatal testing for single gene disorders: exploring the ethics.

Zuzana Deans1, Melissa Hill, Lyn S Chitty, Celine Lewis.   

Abstract

Non-invasive prenatal testing for single gene disorders is now clearly on the horizon. This new technology offers obvious clinical benefits such as safe testing early in pregnancy. Before widespread implementation, it is important to consider the possible ethical implications. Four hypothetical scenarios are presented that highlight how ethical ideals of respect for autonomy, privacy and fairness may come into play when offering non-invasive prenatal testing for single gene disorders. The first scenario illustrates the moral case for using these tests for 'information only', identifying a potential conflict between larger numbers of women seeking the benefits of the test and the wider social impact of funding tests that do not offer immediate clinical benefit. The second scenario shows how the simplicity and safety of non-invasive prenatal testing could lead to more autonomous decision-making and, conversely, how this could also lead to increased pressure on women to take up testing. In the third scenario we show how, unless strong safeguards are put in place, offering non-invasive prenatal testing could be subject to routinisation with informed consent undermined and that woman who are newly diagnosed as carriers may be particularly vulnerable. The final scenario introduces the possibility of a conflict of the moral rights of a woman and her partner through testing for single gene disorders. This analysis informs our understanding of the potential impacts of non-invasive prenatal testing for single gene disorders on clinical practice and has implications for future policy and guidelines for prenatal care.

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Year:  2012        PMID: 23188047      PMCID: PMC3722948          DOI: 10.1038/ejhg.2012.250

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN: 1018-4813            Impact factor:   4.246


  54 in total

1.  Maternal plasma DNA sequencing reveals the genome-wide genetic and mutational profile of the fetus.

Authors:  Y M Dennis Lo; K C Allen Chan; Hao Sun; Eric Z Chen; Peiyong Jiang; Fiona M F Lun; Yama W Zheng; Tak Y Leung; Tze K Lau; Charles R Cantor; Rossa W K Chiu
Journal:  Sci Transl Med       Date:  2010-12-08       Impact factor: 17.956

2.  New aids for the non-invasive prenatal diagnosis of achondroplasia: dysmorphic features, charts of fetal size and molecular confirmation using cell-free fetal DNA in maternal plasma.

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

3.  Microfluidics digital PCR reveals a higher than expected fraction of fetal DNA in maternal plasma.

Authors:  Fiona M F Lun; Rossa W K Chiu; K C Allen Chan; Tak Yeung Leung; Tze Kin Lau; Y M Dennis Lo
Journal:  Clin Chem       Date:  2008-08-14       Impact factor: 8.327

4.  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
Journal:  Eur J Hum Genet       Date:  2009-12-02       Impact factor: 4.246

5.  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

6.  Non-invasive prenatal diagnosis for fetal sex determination: benefits and disadvantages from the service users' perspective.

Authors:  Celine Lewis; Melissa Hill; Heather Skirton; Lyn S Chitty
Journal:  Eur J Hum Genet       Date:  2012-03-28       Impact factor: 4.246

7.  The attitude of women toward current and future possibilities of diagnostic testing in maternal blood using fetal DNA.

Authors:  Loes Kooij; Tjeerd Tymstra; Paul van den Berg
Journal:  Prenat Diagn       Date:  2009-02       Impact factor: 3.050

8.  What about informed consent in first-trimester ultrasound screening for Down syndrome?

Authors:  Romain Favre; Grégoire Moutel; Nathalie Duchange; Christophe Vayssière; Monique Kohler; Nicole Bouffet; Marie-Christine Hunsinger; Anne Kohler; Cécile Mager; Muriel Neumann; Christine Vayssière; Brigitte Viville; Christian Hervé; Israel Nisand
Journal:  Fetal Diagn Ther       Date:  2008-02-20       Impact factor: 2.587

9.  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

10.  Fetal sex determination using cell-free fetal DNA: service users' experiences of and preferences for service delivery.

Authors:  Celine Lewis; Melissa Hill; Heather Skirton; Lyn S Chitty
Journal:  Prenat Diagn       Date:  2012-05-10       Impact factor: 3.050

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  16 in total

1.  How people in Benin assess a couple's risk of having a baby with sickle cell disease.

Authors:  Ornheilia Zounon; Paul Clay Sorum; Etienne Mullet
Journal:  J Community Genet       Date:  2014-11-25

2.  Genetic Counseling for Couples Seeking Noninvasive Prenatal Testing in Japan: Experiences of Pregnant Women and their Partners.

Authors:  Motoko Watanabe; Mari Matsuo; Masaki Ogawa; Toshitaka Uchiyama; Satoru Shimizu; Naoko Iwasaki; Akemi Yamauchi; Mari Urano; Hironao Numabe; Kayoko Saito
Journal:  J Genet Couns       Date:  2016-11-09       Impact factor: 2.537

3.  Interpretations of autonomous decision-making in antenatal genetic screening among women in China, Hong Kong and Pakistan.

Authors:  Shenaz Ahmed; Huso Yi; Dong Dong; Jianfeng Zhu; Hussain Jafri; Yasmin Rashid; Olivia My Ngan; Mushtaq Ahmed
Journal:  Eur J Hum Genet       Date:  2018-01-31       Impact factor: 4.246

4.  An easy test but a hard decision: ethical issues concerning non-invasive prenatal testing for autosomal recessive disorders.

Authors:  Heather Skirton; Lesley Goldsmith; Lyn S Chitty
Journal:  Eur J Hum Genet       Date:  2014-11-05       Impact factor: 4.246

5.  Client views and attitudes to non-invasive prenatal diagnosis for sickle cell disease, thalassaemia and cystic fibrosis.

Authors:  Melissa Hill; Cecilia Compton; Madhavi Karunaratna; Celine Lewis; Lyn Chitty
Journal:  J Genet Couns       Date:  2014-05-03       Impact factor: 2.537

Review 6.  Non-invasive prenatal testing: a review of international implementation and challenges.

Authors:  Megan Allyse; Mollie A Minear; Elisa Berson; Shilpa Sridhar; Margaret Rote; Anthony Hung; Subhashini Chandrasekharan
Journal:  Int J Womens Health       Date:  2015-01-16

7.  Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening.

Authors:  Wybo Dondorp; Guido de Wert; Yvonne Bombard; Diana W Bianchi; Carsten Bergmann; Pascal Borry; Lyn S Chitty; Florence Fellmann; Francesca Forzano; Alison Hall; Lidewij Henneman; Heidi C Howard; Anneke Lucassen; Kelly Ormond; Borut Peterlin; Dragica Radojkovic; Wolf Rogowski; Maria Soller; Aad Tibben; Lisbeth Tranebjærg; Carla G van El; Martina C Cornel
Journal:  Eur J Hum Genet       Date:  2015-03-18       Impact factor: 4.246

8.  Non-invasive prenatal diagnosis for cystic fibrosis: detection of paternal mutations, exploration of patient preferences and cost analysis.

Authors:  Melissa Hill; Philip Twiss; Talitha I Verhoef; Suzanne Drury; Fiona McKay; Sarah Mason; Lucy Jenkins; Stephen Morris; Lyn S Chitty
Journal:  Prenat Diagn       Date:  2015-04-05       Impact factor: 3.050

9.  Circulating nucleic acids in plasma and serum: applications in diagnostic techniques for noninvasive prenatal diagnosis.

Authors:  Peter B Gahan
Journal:  Int J Womens Health       Date:  2013-04-17

10.  Preferences for Prenatal Tests for Cystic Fibrosis: A Discrete Choice Experiment to Compare the Views of Adult Patients, Carriers of Cystic Fibrosis and Health Professionals.

Authors:  Melissa Hill; Ranjan Suri; Edward F Nash; Stephen Morris; Lyn S Chitty
Journal:  J Clin Med       Date:  2014-02-14       Impact factor: 4.241

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