The introduction of arrays in prenatal diagnosis: A special challenge

Annalisa Vetro, Katelijne Bouman, Ros Hastings, Dominic J. McMullan, Joris R. Vermeesch, Konstantin Miller, Birgit Sikkema-Raddatz, David H. Ledbetter, Orsetta Zuffardi, Conny M A van Ravenswaaij-Arts

Research output: Contribution to journalArticlepeer-review


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 metaanalysis demonstrated that 5.2% extra diagnoses can be expected in fetuses with ultrasound abnormalities. However, no consensus exists as to whether the use of genomewide 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 genomewide 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.

Original languageEnglish
Pages (from-to)923-929
Number of pages7
JournalHuman Mutation
Issue number6
Publication statusPublished - Jun 2012


  • Genome-wide array analysis
  • Guidelines
  • Prenatal diagnosis

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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