The use of chromosomal microarray in prenatal diagnosis

Authors

  • Sarah Hillman MBChB MRCOG,

    Corresponding author
    • School of Clinical and Experimental Medicine, College of Medicine and Dentistry, University of Birmingham, Edgbaston, Birmingham, UK
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  • Dominic J McMullan FRCPath,

    1. West Midlands Regional Genetics Laboratories and the Department of Clinical Genetics, Birmingham Women's Foundation Trust, Edgbaston, Birmingham, UK
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  • Eamonn R Maher MBChB MD FRCP FMedSci,

    Professor of Medical Genetics
    1. School of Clinical and Experimental Medicine, College of Medicine and Dentistry, University of Birmingham, Edgbaston, Birmingham, UK
    2. West Midlands Regional Genetics Laboratories and the Department of Clinical Genetics, Birmingham Women's Foundation Trust, Edgbaston, Birmingham, UK
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  • Mark D Kilby MBBS DSc MD FRCOG

    Professor (Hilda Lloyd Chair) and Honorary Consultant in Maternal and Fetal Medicine
    1. School of Clinical and Experimental Medicine, College of Medicine and Dentistry, University of Birmingham, Edgbaston, Birmingham, UK
    2. Fetal Medicine Centre, Birmingham Women's Foundation Trust, Edgbaston, Birmingham, UK
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Correspondence: Sarah Hillman. Email: s.hillman@bham.ac.uk

Abstract

Key content

  • The results of prenatal fetal chromosomal analysis may inform long term prognosis.
  • Recent advances in chromosome microarray (CMA) are enabling genome-wide evaluation of submicroscopic chromosomal changes.
  • Such technological advances promise increased sensitivity and specificity. They also potentially pose challenges of interpretation and clinical management.

Learning objectives

  • To systematically review the current literature and explain the benefit and pitfalls of CMAs and their relevance to the practising obstetrician in the NHS.
  • Comment on the future of CMA and its cost effectiveness.

Ethical issues

  • Difficulties of informed consent with genome-wide prenatal testing.
  • Difficulties surround results of unknown significance.

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