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First successful double-factor PGD for Lynch syndrome: monogenic analysis and comprehensive aneuploidy screening

Authors

  • G Daina,

    1. Càtedra de Recerca Eugin-UAB
    2. Unitat de Biologia Cel·lular i Genètica Mèdica, Departament de Biologia Cel·lular, Fisiologia i Immunologia, Facultat de Medicina, Universitat Autònoma de Barcelona, Bellaterra, Spain
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    • These authors contributed equally to this work.

  • L Ramos,

    1. Unitat de Biologia Cel·lular i Genètica Mèdica, Departament de Biologia Cel·lular, Fisiologia i Immunologia, Facultat de Medicina, Universitat Autònoma de Barcelona, Bellaterra, Spain
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    • These authors contributed equally to this work.

  • A Obradors,

    1. Càtedra de Recerca Eugin-UAB
    2. Clínica Eugin
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  • M Rius,

    1. Unitat de Biologia Cel·lular i Genètica Mèdica, Departament de Biologia Cel·lular, Fisiologia i Immunologia, Facultat de Medicina, Universitat Autònoma de Barcelona, Bellaterra, Spain
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  • O Martinez-Pasarell,

    1. Fundació Puigvert Hospital de Sant Pau i de la Santa Creu, Barcelona, Spain
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  • A Polo,

    1. Fundació Puigvert Hospital de Sant Pau i de la Santa Creu, Barcelona, Spain
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  • J del Rey,

    1. Càtedra de Recerca Eugin-UAB
    2. Unitat de Biologia Cel·lular i Genètica Mèdica, Departament de Biologia Cel·lular, Fisiologia i Immunologia, Facultat de Medicina, Universitat Autònoma de Barcelona, Bellaterra, Spain
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  • J Obradors,

    1. Consultori Obstètric Ginecològic Josep Obradors, Figueres, Girona, Spain
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  • J Benet,

    1. Càtedra de Recerca Eugin-UAB
    2. Unitat de Biologia Cel·lular i Genètica Mèdica, Departament de Biologia Cel·lular, Fisiologia i Immunologia, Facultat de Medicina, Universitat Autònoma de Barcelona, Bellaterra, Spain
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  • J Navarro

    Corresponding author
    1. Unitat de Biologia Cel·lular i Genètica Mèdica, Departament de Biologia Cel·lular, Fisiologia i Immunologia, Facultat de Medicina, Universitat Autònoma de Barcelona, Bellaterra, Spain
    • Càtedra de Recerca Eugin-UAB
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  • The authors declare no conflict of interest.

Corresponding author: Dr. Joaquima Navarro, Unitat de Biologia Cel·lular i Genètica Mèdica, Departament de Biologia Cel·lular Fisiologia i Immunologia, Facultat de Medicina, Universitat Autònoma de Barcelona, 08193, Bellaterra, Spain.

Tel.: +34 93 581 1724;

fax: +34 93 581 1025;

e-mail: Joaquima.Navarro@uab.cat

Abstract

Preimplantation genetic diagnosis (PGD) has been applied worldwide for a great variety of single-gene disorders over the last 20 years. 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.

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