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Keywords:

  • chromosomal microarray;
  • prenatal diagnosis

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.