Journal
CLINICAL GENETICS
Volume 84, Issue 1, Pages 70-73Publisher
WILEY
DOI: 10.1111/cge.12025
Keywords
aneuploidy; comparative genomic hybridization; Lynch syndrome; monogenic disease; preimplantation genetic diagnosis
Categories
Funding
- FIS [PI 080012, PI11/00625]
- Generalitat de Catalunya [2009 SGR 1107]
- Catedra de Recerca Eugin-UAB
- Fundacio Credit Andorra
Ask authors/readers for more resources
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.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available