Cytogenetics is rapidly moving in the direction of molecular approaches and DNA sequencing capacity is increasing dramatically. These developments have improved diagnostic services and have also provided unprecedented research opportunities. The clinical indications for genetic testing for fetuses and patients with congenital heart defects (CHDs) have expanded dramatically, a trend that will continue in the years ahead. New genetic tests utilizing next-generation sequencing are likely to enter the clinical setting soon. Finally, affordable sequencing of the entire human genome appears within reach. Awareness of the wide array of genetic tests, including their utility and limitations, will assist providers caring for patients with CHDs.

Original languageEnglish
Title of host publicationPediatric Cardiovascular Medicine
Subtitle of host publicationSecond Edition
Number of pages9
ISBN (Print)9781444335897
StatePublished - 13 Jan 2012


  • Array comparative genomic hybridization (CGH)
  • Chromosomal analysis
  • Chromosomal microarray analysis
  • Congenital heart defects
  • DNA sequencing
  • Fluorescence in situ hybridization (FISH)
  • Genetic testing


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