Outcome of twin babies free of Von Hippel-Lindau disease after a double-factor preimplantation genetic diagnosis: monogenetic mutation analysis and comprehensive aneuploidy screening

Albert Obradors, Esther Fernández, Mariona Rius, Maria Oliver-Bonet, Maria Martínez-Fresno, Jordi Benet, Joaquima Navarro

Research output: Contribution to journalArticleResearchpeer-review

27 Citations (Scopus)

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 evolved and 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. © 2009 American Society for Reproductive Medicine.
Original languageEnglish
Pages (from-to)933.e1-933.e7
JournalFertility and Sterility
Volume91
DOIs
Publication statusPublished - 1 Jan 2009

Keywords

  • CGH
  • PGD
  • VHL
  • aneuploidy
  • genetic diagnosis

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