Double-factor preimplantation genetic diagnosis: monogenic and cytogenetic diagnoses analyzing a single blastomere.
作者： Gemma Daina , Laia Ramos , Albert Obradors , Mariona Rius , Javier del Rey
DOI: 10.1002/PD.4691
关键词: Comparative genomic hybridization 、 Ploidy 、 Genetic testing 、 Blastomere 、 Genetics 、 Embryo 、 Biology 、 Aneuploidy 、 Chromosome 、 Preimplantation genetic diagnosis
摘要: Objective Enhancing implantation rates in preimplantation genetic diagnosis (PGD) cycles is still a challenging aspect to address. As aneuploidy can be one of the factors influencing low obtained, aim this work was combine monogenic analysis with comprehensive screening (double factor) order transfer selected (healthy and euploid) embryos same in-vitro fertilization (IVF) cycle. Method In present double-factor PGD (DF-PGD) approach, single blastomere biopsied from each embryo, whole genome amplification DNA product obtained successfully used for both metaphase comparative genomic hybridization cytogenetic screening. The developed DF-PGD applied 62 seven families at risk monogenic-inherited diseases total IVF-DF-PGD cycles. Results While 68.2% diagnosed were healthy diseases, only 43.3% them chromosomally normal considering aneuploidies and/or segmental chromosome imbalances. Six out had transferrable according results. Two babies born 11 embryo transfers. Conclusion In useful tool select potentially viable transfer, their complement. © 2015 John Wiley & Sons, Ltd.
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