C E Beyer1, A Lewis2, E Willats2, J Mullen2. 1. Monash IVF, Suite 1, 252 Clayton Rd, Clayton, Victoria, 3168, Australia. clairebeyer@hotmail.com. 2. Monash IVF, Suite 1, 252 Clayton Rd, Clayton, Victoria, 3168, Australia.
Abstract
PURPOSE: Preimplantation genetic testing (PGT) using Karyomapping is used to screen embryos for single gene disorders prior to implantation. While Karyomapping is not designed to screen for abnormalities in chromosome copy number, this testing is based upon a genome-wide analysis of single nucleotide polymorphisms (SNP) and, as such, some chromosome abnormalities are detected. The aim of this study was to validate whether Karyomapping could provide reliable and accurate PGT for a paternal 46,XY,t(10;19)(p15;p13.3) reciprocal translocation. METHODS: Feasibility/validation for PGT was performed using DNA from the couple, as well as DNA from the paternal parents and from a previous unbalanced pregnancy. Karyomapping was performed using Illumina's HumanKaryomap-12 BeadChip microarray technology. SNP analysis was performed using BlueFuse Multi software (Illumina). Transmission of the translocation was assessed through the analysis of SNP markers on the chromosome regions of interest. RESULTS: PGT-SR was determined to be feasible as chromosomal SNP analysis could reliably distinguish normal/balanced outcomes from all unbalanced outcomes. The couple transferred a normal/balanced embryo in an elective single embryo transfer procedure following 2 IVF/PGT-SR cycles. A clinical pregnancy was achieved. CONCLUSION: This is the first report of PGT-SR test validation using Karyomapping for a 46,XY,t(10;19)(p15;p13.3) reciprocal translocation. Karyomapping may offer a means of detecting unbalanced forms of chromosome rearrangements when other PGT platforms fail.
PURPOSE: Preimplantation genetic testing (PGT) using Karyomapping is used to screen embryos for single gene disorders prior to implantation. While Karyomapping is not designed to screen for abnormalities in chromosome copy number, this testing is based upon a genome-wide analysis of single nucleotide polymorphisms (SNP) and, as such, some chromosome abnormalities are detected. The aim of this study was to validate whether Karyomapping could provide reliable and accurate PGT for a paternal 46,XY,t(10;19)(p15;p13.3) reciprocal translocation. METHODS: Feasibility/validation for PGT was performed using DNA from the couple, as well as DNA from the paternal parents and from a previous unbalanced pregnancy. Karyomapping was performed using Illumina's HumanKaryomap-12 BeadChip microarray technology. SNP analysis was performed using BlueFuse Multi software (Illumina). Transmission of the translocation was assessed through the analysis of SNP markers on the chromosome regions of interest. RESULTS:PGT-SR was determined to be feasible as chromosomal SNP analysis could reliably distinguish normal/balanced outcomes from all unbalanced outcomes. The couple transferred a normal/balanced embryo in an elective single embryo transfer procedure following 2 IVF/PGT-SR cycles. A clinical pregnancy was achieved. CONCLUSION: This is the first report of PGT-SR test validation using Karyomapping for a 46,XY,t(10;19)(p15;p13.3) reciprocal translocation. Karyomapping may offer a means of detecting unbalanced forms of chromosome rearrangements when other PGT platforms fail.
Authors: Pere Colls; Tomas Escudero; Jill Fischer; Natalie A Cekleniak; Snunit Ben-Ozer; Bill Meyer; Miguel Damien; Jamie A Grifo; Avner Hershlag; Santiago Munné Journal: Reprod Biomed Online Date: 2012-02-22 Impact factor: 3.828
Authors: Senthilkumar A Natesan; Alan H Handyside; Alan R Thornhill; Christian S Ottolini; Karen Sage; Michael C Summers; Michalis Konstantinidis; Dagan Wells; Darren K Griffin Journal: Reprod Biomed Online Date: 2014-07-25 Impact factor: 3.828
Authors: Alan H Handyside; Gary L Harton; Brian Mariani; Alan R Thornhill; Nabeel Affara; Marie-Anne Shaw; Darren K Griffin Journal: J Med Genet Date: 2009-10-25 Impact factor: 6.318
Authors: C Cuman; C E Beyer; D Brodie; T Fullston; J I Lin; E Willats; D Zander-Fox; J Mullen Journal: Hum Reprod Date: 2018-08-01 Impact factor: 6.918
Authors: Senthilkumar A Natesan; Alex J Bladon; Serdar Coskun; Wafa Qubbaj; Renata Prates; Santiago Munne; Edith Coonen; Joseph C F M Dreesen; Servi J C Stevens; Aimee D C Paulussen; Sharyn E Stock-Myer; Leeanda J Wilton; Souraya Jaroudi; Dagan Wells; Anthony P C Brown; Alan H Handyside Journal: Genet Med Date: 2014-05-08 Impact factor: 8.822