A healthy HLA-matched baby born by using a combination of aCGH and Karyomapping: the first latin american case

Abstract

PGD for HLA typing is a procedure that can be performed when an affected child requires a transplant to treat a non-hereditary disorder related to the hematopoietic and/or immune system. Hematopoietic stem cell transplantation from an HLA-identical donor provides the best treatment option. Three conventional ovarian stimulation procedures for IVF were performed in a couple with a 10-year-old child diagnosed with T-cell acute lymphoblastic leukemia of high risk. Trophectoderm biopsy and aCGH examination were performed on 15 blastocysts, three on the first IVF procedure, four on the second cycle, and eight on the third. Three euploid blastocysts HLA-compatible with the genome of the affected child were identified. One euploid blastocyst HLA-compatible with the affected child was warmed and transferred, resulting in an HLA-matched live birth. In conclusion, combined aCGH for aneuploidy screening and Karyomapping may be performed in a single biopsy procedure.

Preimplantation Genetic Testing: A Review of Past and Current

“…The advantages of karyomapping was further highlighted in identifying haplotypes (97.7% success rate) with a limitation caused by regions of homozygosity [31]. Such studies and many others [32,33,29,34] demonstrate that genomewide Karyomapping is accurate and most of the times it facilitates analysis of inheritance in single-gene defect. The major drawback with this approach is the significantly high cost of analysis as it requires dedicated chips and advanced array scanners.…”