Literature DB >> 21629296

Rapid aneuploidy detection or karyotyping? Ethical reflection.

Antina de Jong1, Wybo J Dondorp, Daniëlle R M Timmermans, Jan M M van Lith, Guido M W R de Wert.   

Abstract

No consensus exists whether women at increased risk for trisomy 21, 13, and 18 should be offered stand-alone rapid aneuploidy detection (RAD) or karyotyping. In this paper, the ethical implications of a fast, relatively cheap and targeted RAD are examined. The advantages of RAD seem less robust than its proponents suggest. Fast test results only give a short-term psychological benefit. The cost advantage of RAD is apparent, but must be weighed against consequences like missed abnormalities, which are evaluated differently by professionals and pregnant women. Since pre-test information about RAD will have to include telling women about karyotyping as a possible alternative, the advantage of RAD in terms of the quantity of information that needs to be given may also be smaller than suggested. We conclude that none of the supposed arguments in favour of RAD is decisive in itself. Whether the case for RAD may still be regarded as convincing when taking these arguments together seems to depend on one's implicit view of what prenatal screening is about. Are we basically dealing with a test for trisomy 21 and a few conditions more? Or are there good grounds for also testing for the wider range of abnormalities that karyotyping can detect? As professionals and pregnant women may have different views about this, we suggest that the best approach is to offer women a choice between RAD and karyotyping. This approach is most in line with the general aim of prenatal screening: providing opportunities for autonomous reproductive choice.

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Year:  2011        PMID: 21629296      PMCID: PMC3190255          DOI: 10.1038/ejhg.2011.82

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


  41 in total

Review 1.  Additional information from array comparative genomic hybridization technology over conventional karyotyping in prenatal diagnosis: a systematic review and meta-analysis.

Authors:  S C Hillman; S Pretlove; A Coomarasamy; D J McMullan; E V Davison; E R Maher; M D Kilby
Journal:  Ultrasound Obstet Gynecol       Date:  2011-01       Impact factor: 7.299

2.  The impact of rapid aneuploidy detection (RAD) in addition to karyotyping versus karyotyping on maternal quality of life.

Authors:  E M A Boormans; E Birnie; D Oepkes; C M Bilardo; H I J Wildschut; J Creemers; G J Bonsel; J M M van Lith
Journal:  Prenat Diagn       Date:  2010-05       Impact factor: 3.050

Review 3.  Different communication strategies for disclosing results of diagnostic prenatal testing.

Authors:  Faris Mujezinovic; Anica Prosnik; Zarko Alfirevic
Journal:  Cochrane Database Syst Rev       Date:  2010-11-10

4.  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

Review 5.  Array technology in prenatal diagnosis.

Authors:  Orsetta Zuffardi; Annalisa Vetro; Paul Brady; Joris Vermeesch
Journal:  Semin Fetal Neonatal Med       Date:  2011-01-05       Impact factor: 3.926

6.  Aiming at multidisciplinary consensus: what should be detected in prenatal diagnosis?

Authors:  Elisabeth M A Boormans; E Birnie; Alida C Knegt; G Heleen Schuring-Blom; Gouke J Bonsel; Jan M M van Lith
Journal:  Prenat Diagn       Date:  2010-11       Impact factor: 3.050

7.  Prenatal testing for Down syndrome: comparison of screening practices in the UK and USA.

Authors:  Dagmar Tapon
Journal:  J Genet Couns       Date:  2009-11-03       Impact factor: 2.537

8.  Rapid aneuploidy screening with fluorescence in-situ hybridisation: is it a sufficiently robust stand-alone test for prenatal diagnosis?

Authors:  A S T Lim; T H Lim; M M Hess; S K Kee; Y Y F Lau; R Gilbert; T E Hempel; K J Anderson; D H Zaleski; S L Tien; P Chia; R Subramaniam; H K Tan; A S A Tan; W G Sanger
Journal:  Hong Kong Med J       Date:  2010-12       Impact factor: 2.227

9.  Non-invasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing: large scale validity study.

Authors:  Rossa W K Chiu; Ranjit Akolekar; Yama W L Zheng; Tak Y Leung; Hao Sun; K C Allen Chan; Fiona M F Lun; Attie T J I Go; Elizabeth T Lau; William W K To; Wing C Leung; Rebecca Y K Tang; Sidney K C Au-Yeung; Helena Lam; Yu Y Kung; Xiuqing Zhang; John M G van Vugt; Ryoko Minekawa; Mary H Y Tang; Jun Wang; Cees B M Oudejans; Tze K Lau; Kypros H Nicolaides; Y M Dennis Lo
Journal:  BMJ       Date:  2011-01-11

10.  Rapid testing versus karyotyping in Down's syndrome screening: cost-effectiveness and detection of clinically significant chromosome abnormalities.

Authors:  Jean Gekas; David-Gradus van den Berg; Audrey Durand; Maud Vallée; Hajo Izaäk Johannes Wildschut; Emmanuel Bujold; Jean-Claude Forest; François Rousseau; Daniel Reinharz
Journal:  Eur J Hum Genet       Date:  2010-09-15       Impact factor: 4.246

View more
  5 in total

1.  Microarrays as a diagnostic tool in prenatal screening strategies: ethical reflection.

Authors:  Antina de Jong; Wybo J Dondorp; Merryn V E Macville; Christine E M de Die-Smulders; Jan M M van Lith; Guido M W R de Wert
Journal:  Hum Genet       Date:  2014-02       Impact factor: 4.132

Review 2.  Advances in prenatal screening: the ethical dimension.

Authors:  Antina de Jong; Wybo J Dondorp; Suzanna G M Frints; Christine E M de Die-Smulders; Guido M W R de Wert
Journal:  Nat Rev Genet       Date:  2011-08-18       Impact factor: 53.242

3.  The scope of prenatal diagnosis for women at increased risk for aneuploidies: views and preferences of professionals and potential users.

Authors:  Antina de Jong; Wybo J Dondorp; Anja Krumeich; Julie Boonekamp; Jan M M van Lith; Guido M W R de Wert
Journal:  J Community Genet       Date:  2012-11-09

4.  Rapid and simultaneous detection of common aneuploidies by quadruplex real-time polymerase chain reaction combined with melting curve analysis.

Authors:  Jiwu Lou; Manna Sun; Ying Zhao; Zhisong Ji; Fenghua Liu; Dongzhi Li; Wanfang Xu; Yangyang Lin; Yanhui Liu
Journal:  PLoS One       Date:  2017-02-27       Impact factor: 3.240

5.  Women's Attitudes towards the Option to Choose between Karyotyping and Rapid Targeted Testing during Pregnancy.

Authors:  Angelique J A Kooper; Dominique F C M Smeets; Ilse Feenstra; Lia D E Wijnberger; Robbert J P Rijnders; Rik W P Quartero; Peter F Boekkooi; John M G van Vugt; Arie P T Smits
Journal:  Obstet Gynecol Int       Date:  2013-04-30
  5 in total

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