Reprogenetics: Everything associated with PGD: preimplantation genetic diagnosis

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The importance of a full chromosome count in PGD

Cristina Gutiérrez-Mateo *1 , Jordi Benet 1 , Santiago Munné 2,3 , Dagan Wells 2,3 , Jorge F. Sánchez-García 1 , Thomas Liehr 4 , and Joaquima Navarro 1

1 Unitat de Biologia, Universitat Autònoma de Barcelona, Spain 2 The Institute for Reproductive Medicine and Science, St. Barnabas Medical Center, USA, 3 Reprogenetics, USA. 4 Institute of Human Genetics and Anthropology, Germany.

PGD-AS using FISH is limited by the number of chromosomes that can be analysed. This may lead to the replacement of abnormal embryos misdiagnosed as normal. The object was to determine the benefits of a full chromosome analysis in PGD.

The 1PBs were analysed by CGH while the oocytes were analysed by CGH, FISH or cenM-FISH in order to confirm any aneuploidy found in the 1PBs.

A total of 81 1PB-oocyte doublets donated by 70 women (mean 34.5 y.o.) were analysed. The aneuploidy rate was 49.4% (40/81) and 40% (16/40) of the aneuploid doublets would have been incorrectly diagnosed as normal analysing the standard 9-chromosomes FISH panel.

Our results strength the arguments for the complete karyotyping as an ideal PGD strategy, since aneuploidies affecting chromosomes that are not included in FISH analysis may be common at conception, causing spontaneous abortions and a decrease in implantation rates.

PGD BREAKING NEWS

2/2006 High rates of chromosome abnormalities are found in embryos from egg donors, suggesting that PGD may be recommended in egg donor cycles.
Embryo chromosome studies show high rates of abnormalities, above 50%, but most embryos studied before this study were from patients 35 and older. | Read

Reprogenetics demonstrates that patients with recurrent pregnancy loss can benefit from PGD
The objective of the study was to determine if Preimplantation Genetic Diagnosis (PGD) and transfer of chromosomally normal embryos would decrease spontaneous abortion rates in patients suffering from recurrent pregnancy loss (RPL). | Read

See the abstracts presented by Reprogenetics at the PGDIS meeting (London)
Microarray technology to assess gene expression profiles... | Read

PGD DIAGNOSIS

Reprogenetics provides PGD analysis to IVF centers, including PGD of aneuploidy for advanced maternal age (such as Down syndrome), repeated IVF failure, recurrent spontaneous abortions, chromosome translocations and inversions, as well as PGD for gene defects such as Cystic fibrosis, fragile X, Myotonic Dystrophy, Thalasaemia, Tay Sachs, and others. We also provide embryologist that can perform embryo biopsy and cell processing.

GENETIC COUNSELING FOR PATIENTS

Patients interested in PGD services could contact an IVF center for which we provide services or directly contact our genetic counselor for an in depth discussion of your case.

ASSOCIATIONS
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