Array technology in prenatal diagnosis

Orsetta Zuffardi, Annalisa Vetro, Paul Brady, Joris Vermeesch

Research output: Contribution to journalArticlepeer-review

Abstract

Array technology, here termed molecular karyotyping, is an attractive alternative to conventional karyotyping for prenatal diagnosis given the increase in resolution as well as faster report times. We review the benefits and limitations of this technique for the detection of pathogenic genomic imbalances, address the challenges raised in the interpretation of copy number variations, discuss practical considerations for the routine implementation of molecular karyotyping in prenatal diagnosis, and identify areas where more research is desired to enable large scale introduction of the technique(s).

Original languageEnglish
Pages (from-to)94-98
Number of pages5
JournalSeminars in Fetal and Neonatal Medicine
Volume16
Issue number2
DOIs
Publication statusPublished - Apr 2011

Keywords

  • Array comparative genomic hybridization
  • Copy number variation
  • Cytogenomic array
  • Molecular karyotyping
  • Prenatal diagnosis
  • Unclassified variants

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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