PGD and aneuploidy screening for 24 chromosomes by genome-wide SNP analysis: seeing the wood and the trees.

Abstract

Bisignano et al. (2011) argue that, for preimplantation genetic diagnosis (PGD) of aneuploidy for all 24 chromosomes, microarray-based comparative genomic hybridization (array CGH) is superior to the use of single-nucleotide polymorphism (SNP) genotyping arrays. Published studies indicate that both technologies accurately detect aneuploidy of whole chromosomes or chromosome segments. However, given the extra theoretical resolution and parent-of-origin information provided by SNP-based approaches, these may be particularly suited to certain applications such as PGD of single-gene defects or translocation chromosome imbalance combined with comprehensive detection of aneuploidy. A consensus on how to validate aneuploidy testing and all other clinically relevant information resulting from genome-wide analysis is needed urgently.

• Authors: Alan H Handyside
• Journal: Reproductive biomedicine online (Reprod Biomed Online) Vol. 23 Issue 6 Pg. 686-91 (Dec 2011) ISSN: 1472-6491 [Electronic] Netherlands
• PMID: 22033395 (Publication Type: Journal Article, Comment)
• Copyright: Copyright © 2011 Reproductive Healthcare Ltd. Published by Elsevier Ltd. All rights reserved.

Topics

• Aneuploidy
• Female
• Humans
• Male
• Pregnancy
• Preimplantation Diagnosis (methods)