Literature DB >> 24077959

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

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.   

Abstract

Genomic microarray analysis is increasingly being applied as a prenatal diagnostic tool. Microarrays enable searching the genome at a higher resolution and with higher sensitivity than conventional karyotyping for identifying clinically significant chromosomal abnormalities. As yet, no clear guidelines exist on whether microarrays should be applied prenatally for all indications or only in selected cases such as ultrasound abnormalities, whether a targeted or genome-wide array should be used, and what these should include exactly. In this paper, we present some ethical considerations on the prenatal use of microarrays. There is a strong consensus, at least in Western countries, that the aim of prenatal screening for foetal abnormalities should be understood as facilitating autonomous reproductive choice for prospective parents. The tests offered should be valid and useful to reach that purpose. Against this background, we address several ethical issues raised by the prenatal application of microarrays. First, we argue that the general distinction between a targeted and a genome-wide microarray needs to be scrutinised. Then we examine whether microarrays are 'suitable tests' to serve either a screening or a diagnostic purpose. Given the wide range of findings possibly generated by microarrays, the question arises whether microarrays actually promote or interfere with autonomous reproductive decision-making. Moreover, if variants of unknown clinical significance are identified, this adds to the burden and complexity of reproductive decision-making. We suggest a qualified use of microarrays in the prenatal context.

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Year:  2014        PMID: 24077959     DOI: 10.1007/s00439-013-1365-5

Source DB:  PubMed          Journal:  Hum Genet        ISSN: 0340-6717            Impact factor:   4.132


  53 in total

1.  Array CGH in routine prenatal diagnosis practice.

Authors:  Pietro Cavalli; Ugo Cavallari; Antonio Novelli
Journal:  Prenat Diagn       Date:  2012-07       Impact factor: 3.050

2.  Practice guidelines for performance of the routine mid-trimester fetal ultrasound scan.

Authors:  L J Salomon; Z Alfirevic; V Berghella; C Bilardo; E Hernandez-Andrade; S L Johnsen; K Kalache; K-Y Leung; G Malinger; H Munoz; F Prefumo; A Toi; W Lee
Journal:  Ultrasound Obstet Gynecol       Date:  2011-01       Impact factor: 7.299

3.  Diagnostic utility of array-based comparative genomic hybridization (aCGH) in a prenatal setting.

Authors:  Idit Maya; Bella Davidov; Liron Gershovitz; Yael Zalzstein; Ellen Taub; Justine Coppinger; Lisa G Shaffer; Mordechai Shohat
Journal:  Prenat Diagn       Date:  2010-12       Impact factor: 3.050

Review 4.  Use of array CGH in the evaluation of dysmorphology, malformations, developmental delay, and idiopathic mental retardation.

Authors:  Pawel Stankiewicz; Arthur L Beaudet
Journal:  Curr Opin Genet Dev       Date:  2007-04-30       Impact factor: 5.578

Review 5.  Application of array-based comparative genomic hybridization to clinical diagnostics.

Authors:  Bassem A Bejjani; Lisa G Shaffer
Journal:  J Mol Diagn       Date:  2006-11       Impact factor: 5.568

6.  Genetic counselling and ethical issues with chromosome microarray analysis in prenatal testing.

Authors:  George McGillivray; Jill A Rosenfeld; R J McKinlay Gardner; Lynn H Gillam
Journal:  Prenat Diagn       Date:  2012-04       Impact factor: 3.050

Review 7.  Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.

Authors:  David T Miller; Margaret P Adam; Swaroop Aradhya; Leslie G Biesecker; Arthur R Brothman; Nigel P Carter; Deanna M Church; John A Crolla; Evan E Eichler; Charles J Epstein; W Andrew Faucett; Lars Feuk; Jan M Friedman; Ada Hamosh; Laird Jackson; Erin B Kaminsky; Klaas Kok; Ian D Krantz; Robert M Kuhn; Charles Lee; James M Ostell; Carla Rosenberg; Stephen W Scherer; Nancy B Spinner; Dimitri J Stavropoulos; James H Tepperberg; Erik C Thorland; Joris R Vermeesch; Darrel J Waggoner; Michael S Watson; Christa Lese Martin; David H Ledbetter
Journal:  Am J Hum Genet       Date:  2010-05-14       Impact factor: 11.025

8.  Chromosomal microarray analysis as a first-line test in pregnancies with a priori low risk for the detection of submicroscopic chromosomal abnormalities.

Authors:  Francesco Fiorentino; Stefania Napoletano; Fiorina Caiazzo; Mariateresa Sessa; Sara Bono; Letizia Spizzichino; Anthony Gordon; Andrea Nuccitelli; Giuseppe Rizzo; Marina Baldi
Journal:  Eur J Hum Genet       Date:  2012-12-05       Impact factor: 4.246

Review 9.  Additional value of prenatal genomic array testing in fetuses with isolated structural ultrasound abnormalities and a normal karyotype: a systematic review of the literature.

Authors:  M C de Wit; M I Srebniak; L C P Govaerts; D Van Opstal; R J H Galjaard; A T J I Go
Journal:  Ultrasound Obstet Gynecol       Date:  2014-02       Impact factor: 7.299

10.  Experience with microarray-based comparative genomic hybridization for prenatal diagnosis in over 5000 pregnancies.

Authors:  Lisa G Shaffer; Mindy P Dabell; Allan J Fisher; Justine Coppinger; Anne M Bandholz; Jay W Ellison; J Britt Ravnan; Beth S Torchia; Blake C Ballif; Jill A Rosenfeld
Journal:  Prenat Diagn       Date:  2012-08-02       Impact factor: 3.050

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  13 in total

1.  An exploration of genetic counselors' needs and experiences with prenatal chromosomal microarray testing.

Authors:  Barbara A Bernhardt; Katherine Kellom; Alexandra Barbarese; W Andrew Faucett; Ronald J Wapner
Journal:  J Genet Couns       Date:  2014-02-27       Impact factor: 2.537

2.  Comparing genetic counselor's and patient's perceptions of needs in prenatal chromosomal microarray testing.

Authors:  Sarah A Walser; Katherine S Kellom; Steven C Palmer; Barbara A Bernhardt
Journal:  Prenat Diagn       Date:  2015-06-19       Impact factor: 3.050

Review 3.  Pre- and post-test genetic counseling for chromosomal and Mendelian disorders.

Authors:  Jill Fonda Allen; Katie Stoll; Barbara A Bernhardt
Journal:  Semin Perinatol       Date:  2015-12-21       Impact factor: 3.300

4.  Ethical and counseling challenges in prenatal exome sequencing.

Authors:  Sarah Harris; Kelly Gilmore; Emily Hardisty; Anne Drapkin Lyerly; Neeta L Vora
Journal:  Prenat Diagn       Date:  2018-09-11       Impact factor: 3.050

5.  Detection of copy number variants using chromosomal microarray analysis for the prenatal diagnosis of congenital heart defects with normal karyotype.

Authors:  Tingting Song; Shanning Wan; Yu Li; Ying Xu; Yinghui Dang; Yunyun Zheng; Chunyan Li; Jiao Zheng; Biliang Chen; Jianfang Zhang
Journal:  J Clin Lab Anal       Date:  2018-07-25       Impact factor: 2.352

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

Review 7.  Exome Sequencing in Fetuses with Structural Malformations.

Authors:  Fiona L Mackie; Keren J Carss; Sarah C Hillman; Matthew E Hurles; Mark D Kilby
Journal:  J Clin Med       Date:  2014-07-08       Impact factor: 4.241

Review 8.  The Psychological Challenges of Replacing Conventional Karyotyping with Genomic SNP Array Analysis in Prenatal Testing.

Authors:  Sam Riedijk; Karin E M Diderich; Sanne L van der Steen; Lutgarde C P Govaerts; Marieke Joosten; Maarten F C M Knapen; Femke A T de Vries; Diane van Opstal; Aad Tibben; Robert-Jan H Galjaard
Journal:  J Clin Med       Date:  2014-07-03       Impact factor: 4.241

Review 9.  Chromosomal Mosaicism in Human Feto-Placental Development: Implications for Prenatal Diagnosis.

Authors:  Francesca Romana Grati
Journal:  J Clin Med       Date:  2014-07-24       Impact factor: 4.241

10.  The Psychological Impact of Prenatal Diagnosis and Disclosure of Susceptibility Loci: First Impressions of Parents' Experiences.

Authors:  S L van der Steen; S R Riedijk; J Verhagen-Visser; L C P Govaerts; M I Srebniak; D Van Opstal; M Joosten; M F C M Knapen; A Tibben; K E M Diderich; R J H Galjaard
Journal:  J Genet Couns       Date:  2016-05-25       Impact factor: 2.537

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