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Preimplantation genetic diagnosis (PGD) was carried out for a couple carrying a de-novo deletion in the TSC2 gene, responsible for tuberous sclerosis. Karyomapping, a method employing genome-wide analysis of single nucleotide polymorphisms (SNP), was used as PGD protocol. Analysis of DNA from the affected parent using karyomapping confirmed the region covered by the deletion and revealed more than 30 SNP located within the affected region. These SNP were subsequently used for embryo diagnosis (deletion revealed by hemizygosity and/or reduced probe intensity). Seven blastocyst embryos underwent trophectoderm biopsy followed by vitrification. Biopsied cells were subjected to comprehensive aneuploidy screening using microarray comparative genomic hybridization (aCGH), with karyomapping for the detection of embryos carrying the mutant TSC2 gene carried out in tandem. Two embryo transfers were performed, the second of which resulted in the birth of a child. This study highlights that karyomapping may be applicable to a subset of de-novo mutations undetectable using standard PGD strategies. Additionally, karyomapping results were in complete concordance with aCGH, both methods revealing the same aneuploidies in the embryos tested. It was concluded that karyomapping may represent a valuable advance in cases of PGD for monogenic diseases.

Original publication




Journal article


Reprod Biomed Online

Publication Date





770 - 775


karyomapping, preimplantation genetic diagnosis, single gene diseases, single nucleotide polymorphism, tuberous sclerosis, whole genome amplification, Adult, Chromosome Mapping, Comparative Genomic Hybridization, Embryo Transfer, Female, Humans, Infant, Newborn, Karyotyping, Male, Polymerase Chain Reaction, Polymorphism, Single Nucleotide, Pregnancy, Preimplantation Diagnosis, Sequence Deletion, Sperm Injections, Intracytoplasmic