Abstract
OBJECTIVE:
To increase the embryo implantation rate, a double-factor preimplantation genetic diagnosis (DF-PGD) was performed, selecting for transfer potentially euploid evolved embryos free of the mutation responsible for Von Hippel-Lindau syndrome (VHL).
DESIGN:
Case report.
SETTINGS:
Medical university center and a private IVF center.
PATIENT(S):
A patient carrier of the R161Q mutation on the VHL gene.
INTERVENTION(S):
After first polar body (1PB) biopsy, it was analyzed using comparative genomic hybridization (1PB-CGH). On day +3, mutation detection using minisequencing and short tandem repeat analysis was performed in multiple displacement amplification products of a single blastomere per embryo.
MAIN OUTCOME MEASURE(S):
Transfering embryos free of the disease and originating from euploid oocytes.
RESULT(S):
Nine of the twelve oocytes obtained were successfully analyzed using 1PB-CGH. One of them was aneuploid (1PB #1: 29XX,+2,+10,+12,+17,+19), and the rest were euploid. All of the oocytes were fertilized and became evolved embryos. Six of the embryos were VHL unaffected and had good quality. Five (83%) of them were potentially euploid. According to cytogenetic results, two of the evolvedand healthy embryos were transfered, achieving the birth of healthy twin babies.
CONCLUSION(S):
The DF-PGD can be a useful tool to increase implantation of transfered embryos in PGD for monogenic diseases.
Year: 2009
Journal: Fertility and sterility
PMID: 19135659
Centers: Congratulations to Aina Nicolau for defending her Master’s Thesis New publication in Molecular Human Reproduction New publication in the Journal of Assisted Reproduction and Genetics Agustina Alessandroni has joined our laboratory to pursue her PhD degree.