Detection of Aneuploidy and Unbalanced Rearrangements Using Comparative Genomic Hybridization Microarrays

Methods Mol Biol. 2019:1885:73-84. doi: 10.1007/978-1-4939-8889-1_5.

Abstract

Comparative genomic hybridization arrays (aCGH) allow the analysis of all 24 chromosome aneuploidies and chromosome rearrangements in the same single (or few) biopsied cells in a short period (less than 24 h). When applied to preimplantation genetic diagnosis (PGD) and screening (PGS) this technique can improve the selection of embryos for transfer and therefore also the reproductive outcomes. In this chapter, we describe the CGH microarray protocol for PGS and PGD used in our laboratory.

Keywords: Aneuploidy; Array CGH; Chromosomal rearrangement; Preimplantation genetic diagnosis (PGD); Preimplantation genetic screening (PGS); Whole genome amplification.

MeSH terms

  • Aneuploidy*
  • Comparative Genomic Hybridization* / methods
  • Data Analysis
  • Female
  • Genetic Testing
  • Humans
  • Preimplantation Diagnosis* / methods
  • Single-Cell Analysis
  • Translocation, Genetic*