Dr. Wafa A. Qubbaj, PhD

Dr. Wafa Qubbaj obtained her PhD in Genetics in 2003 from the University College London (UCL), Perinatal Centre, Department of Obstetrics and Gynecology. She was appointed as a Post Doctoral Clinical Scientist at the Perinatal Centre, University College of London (UCL).

From 2005 to 2007, she was a Specialist Molecular Geneticist at the National Centre of Diabetes Endocrinology and Genetics (NCDEG).

Currently, Dr. Wafa is a Clinical Scientist, Assisted Reproductive Technology (ART), at King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia. She is in charge of the Preimplantation Genetic Diagnosis (PGD) service for single gene disorders and chromosomal aberration.

Title of Presentation

Karyomapping: current practice and future strategies at KFSHRC

Since May 2015; karyomapping from single blastomeres following multiple displacement amplification (MDA) “whole genome amplification method”, has been implemented in the pre-implantation genetic diagnosis (PGD) service at King Faisal Specialist hospital and Research Center (KFSHRC). Karyomapping is a genome wide linkage based analysis utilizing genome wide single nucleotide polymorphism (SNP) arrays “ Illumina’s CytoSNP-12 BeadChip” to obtain genome-wide genotypes for parents, reference siblings, or other family members as appropriate (generally genomic DNA extracted from blood) and embryos (biopsy of single/few cells). For each embryo, SNPs are compared to the reference and are phased to identify the parental origin of chromosomes at all SNP loci (2 Mb 5’ and 3’ site will be included). Embryos selection is for those whom will be either in phase with homozygous normal references or out of phase for affected references. Additionally, SNP arrays provide a quantitative analysis, therefore it confirms the presence any chromosomal abnormalities such as trisomy or monsomy/deletion, recombination, as well as copy number variants (CNVs).

A total of 53 PGD cycles were performed by karyomapping (table attached); of them, 38 cycles had embryo transfers; and 15 Cycles (28.3%) were cancelled due to the fact that the tested embryos were either affected with the genetic disease or had chromosomal abnormalities. The ability to test for single gene defects in concordance with the chromosomal abnormalities had significant increase in the pregnancy rate; 21 cycles (55%) delivered/positive pregnancy.