The introduction of arrays in prenatal diagnosis: A special challenge

Authors

  • Annalisa Vetro,

    1. Medical Genetics, University of Pavia, Pavia, Italy
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  • Katelijne Bouman,

    1. Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands
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  • Ros Hastings,

    1. CEQA and UK NEQAS for Clinical Cytogenetics, Women's Centre, John Radcliffe Hospital, Oxford University Hospitals Trust, Oxford, United Kingdom
    2. Also on behalf of the Genetic Services Quality Committee of the European Society of Human Genetics
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  • Dominic J. McMullan,

    1. West Midlands Regional Genetics Laboratory, Birmingham Women's Hospital NHS Trust, Birmingham, United Kingdom
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  • Joris R. Vermeesch,

    1. Centre for Human Genetics, University Hospital Leuven, Katholieke Universiteit Leuven, Belgium
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  • Konstantin Miller,

    1. Institute of Human Genetics, Hannover Medical School, Hannover, Germany
    2. Also on behalf of the Genetic Services Quality Committee of the European Society of Human Genetics
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  • Birgit Sikkema-Raddatz,

    1. Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands
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  • David H. Ledbetter,

    1. Genomic Medicine Institute, Geisinger Health System, Danville, Pennsylvania
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  • Orsetta Zuffardi,

    1. Medical Genetics, University of Pavia, Pavia, Italy
    2. IRCCS C. Mondino National Institute of Neurology Foundation, Pavia, Italy
    3. Also on behalf of the Genetic Services Quality Committee of the European Society of Human Genetics
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  • Conny M.A. van Ravenswaaij-Arts

    Corresponding author
    1. Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands
    2. Also on behalf of the Genetic Services Quality Committee of the European Society of Human Genetics
    • Department of Genetics, University of Groningen, University Medical Center Groningen, P.O. Box 30.001, 9700 RB Groningen, The Netherlands.
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  • For the Focus on CNV Detection with Diagnostic Arrays

Abstract

Genome-wide arrays are rapidly replacing conventional karyotyping in postnatal cytogenetic diagnostics and there is a growing request for arrays in the prenatal setting. Several studies have documented 1–3% additional abnormal findings in prenatal diagnosis with arrays compared to conventional karyotyping. A recent meta-analysis demonstrated that 5.2% extra diagnoses can be expected in fetuses with ultrasound abnormalities. However, no consensus exists as to whether the use of genome-wide arrays should be restricted to pregnancies with ultrasound abnormalities, performed in all women undergoing invasive prenatal testing or offered to all pregnant women. Moreover, the interpretation of array results in the prenatal situation is challenging due to the large numbers of copy number variants with no major phenotypic effect. This also raises the question of what, or what not to report, for example, how to deal with unsolicited findings. These issues were discussed at a working group meeting that preceded the European Society of Human Genetics 2011 Conference in Amsterdam. This article is the result of this meeting and explores the introduction of genome-wide arrays into routine prenatal diagnosis. We aim to give some general recommendations on how to develop practical guidelines that can be implemented in the local setting and that are consistent with the emerging international consensus. Hum Mutat 33:923–929, 2012. © 2012 Wiley Periodicals, Inc.

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