Array technology in prenatal diagnosis

作者：Zuffardi Orsetta^*; Vetro Annalisa; Brady Paul; Vermeesch Joris

来源：Seminars in Fetal and Neonatal Medicine, 2011, 16(2): 94-98.

DOI：10.1016/j.siny.2010.12.001

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

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).

• 出版日期2011-4