title: Array technology in prenatal diagnosis.
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).
authors.affiliation: Genetica Medica, Università di Pavia, Pavia, Italy. zuffardi@unipv.it
authors.forename: Orsetta
authors.initials: O
authors.lastname: Zuffardi
authors.forename: Annalisa
authors.initials: A
authors.lastname: Vetro
authors.forename: Paul
authors.initials: P
authors.lastname: Brady
authors.forename: Joris
authors.initials: J
authors.lastname: Vermeesch
mesh_terms: D005260:Female; D030342:Genetic Diseases, Inborn / Q000175:diagnosis*; D006801:Humans; D046228:Microarray Analysis / Q000379:methods*; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*