These authors contributed equally to this work.
First successful double-factor PGD for Lynch syndrome: monogenic analysis and comprehensive aneuploidy screening
Version of Record online: 17 OCT 2012
© 2012 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd
Volume 84, Issue 1, pages 70–73, July 2013
How to Cite
First successful double-factor PGD for Lynch syndrome: monogenic analysis and comprehensive aneuploidy screening., , , , , , , , , .
The authors declare no conflict of interest.
- Issue online: 9 JUN 2013
- Version of Record online: 17 OCT 2012
- Accepted manuscript online: 21 SEP 2012 12:54PM EST
- Manuscript Revised: 19 SEP 2012
- Manuscript Accepted: 19 SEP 2012
- Manuscript Received: 30 JUL 2012
- FIS. Grant Numbers: PI 080012, PI11/00625
- Generalitat de Catalunya. Grant Number: 2009 SGR 1107
- Càtedra de Recerca Eugin-UAB
- Fundació Crèdit Andorrà
- comparative genomic hybridization;
- Lynch syndrome;
- monogenic disease;
- preimplantation genetic diagnosis
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.