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Daina G.,Autonomous University of Barcelona | Ramos L.,Autonomous University of Barcelona | Obradors A.,Catedra de Recerca Eugin UAB | Rius M.,Autonomous University of Barcelona | And 5 more authors.
Prenatal Diagnosis | Year: 2015

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 the low implantation rates obtained, the aim of this work was to combine monogenic analysis with comprehensive aneuploidy screening (double factor) in order to transfer the selected (healthy and euploid) embryos in the same in-vitro fertilization (IVF) cycle. Method: In the present double-factor PGD (DF-PGD) approach, a single blastomere was biopsied from each embryo, and the whole genome amplification DNA product obtained was successfully used for both monogenic analysis and metaphase comparative genomic hybridization cytogenetic screening. The developed DF-PGD was applied to 62 embryos from seven families at risk for monogenic-inherited diseases in a total of seven IVF-DF-PGD cycles. Results: While 68.2% of the diagnosed embryos were healthy for the monogenic diseases, only 43.3% of them were chromosomally normal considering aneuploidies and/or segmental chromosome imbalances. Six out of seven families had transferrable embryos according to DF-PGD results. Two healthy babies were born from the 11 selected embryo transfers. Conclusion: In families at risk for monogenic diseases, the DF-PGD is a useful tool to select healthy and potentially viable embryos for transfer, according to their chromosome complement. What's already known about this topic? Aneuploidy can be one of the factors influencing the low implantation rates obtained in PGD cycles. Some years ago, double-factor PGD, (DF-PGD) in which monogenic analysis is performed simultaneously with a comprehensive cytogenetic analysis, was proposed to select best embryos for transfer in PGD cycles. However, two-blastomere biopsy was mandatory to perform this double analysis in the same IVF-PGD cycle, and therefore has only been sporadically applied. What does this study add? This study represents an improvement in double-factor PGD because the requirement of biopsying two cells has been overpassed. Both monogenic analysis and comprehensive aneuploidy screening have been performed from a single blastomere biopsy and in the same IVF-PGD cycle. An optimized DF-PGD procedure has been set-up, clinically applied and has achieved birth of healthy offspring. © 2015 John Wiley & Sons, Ltd.

Daina G.,Catedra de Recerca Eugin UAB | Daina G.,Autonomous University of Barcelona | Ramos L.,Autonomous University of Barcelona | Obradors A.,Catedra de Recerca Eugin UAB | And 10 more authors.
Clinical Genetics | Year: 2013

Preimplantation genetic diagnosis (PGD) has been applied worldwide for a great variety of single-gene disorders over the last 20years. The aim of this work was to perform a double-factor preimplantation genetic diagnosis (DF-PGD) protocol in a family at risk for Lynch syndrome. The family underwent a DF-PGD approach in which two blastomeres from each cleavage-stage embryo were biopsied and used for monogenic and comprehensive cytogenetic analysis, respectively. Fourteen embryos were biopsied for the monogenic disease and after multiple displacement amplification (MDA), 12 embryos were diagnosed; 5 being non-affected and 7 affected by the disease. Thirteen were biopsied to perform the aneuploidy screening by short-comparative genomic hybridization (CGH). The improved DF-PGD approach permitted the selection of not only healthy but also euploid embryos for transfer. This has been the first time a double analysis of embryos has been performed in a family affected by Lynch syndrome, resulting in the birth of two healthy children. The protocol described in this work offers a reliable alternative for single-gene disorder assessment together with a comprehensive aneuploidy screening of the embryos that may increase the chances of pregnancy and birth of transferred embryos. © 2012 John Wiley & Sons A/S.

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