title: Normal birth following PGD for reciprocal translocation after serial vitrification of oocytes from a poor responder: a case report.
abstract: This case study reports the first successful birth outcome following preimplantation genetic diagnosis (PGD) for a chromosome translocation in embryos generated by serial vitrification of oocytes. A couple presented to the fertility clinic with 2 years of primary infertility. The woman was diagnosed with poor ovarian reserve and her partner was diagnosed with severe oligoteratozoospermia and the reciprocal translocation 46,XY,t(1;7)(p36.1;q11.23). Following counselling, the couple opted for serial vitrification of oocytes followed by PGD. A total of 31 oocytes were obtained in five egg collection cycles over a period of 12 months and 27 metaphase-II oocytes were vitrified. Nineteen of the 27 vitrified oocytes survived warming: 14 oocytes from the vitrified group and three oocytes from the fresh cycle were fertilized by intracytoplasmic sperm injection. Eleven embryos, including three from the fresh cycle, were biopsied on day 3 post insemination. Fluorescence in-situ hybridization was performed for the specific chromosomes involved in translocation. Only two embryos from the cryopreservation cycles were diagnosed as normal/balanced, one of which was transferred on day 5 post insemination. A normal healthy female infant was born at week 42 of gestation.
authors.affiliation: MUHC Reproductive Center, McGill University, Montreal, Quebec, Canada.
authors.forename: Jin Tae
authors.initials: JT
authors.lastname: Chung
authors.forename: Weon-Young
authors.initials: WY
authors.lastname: Son
authors.forename: Xiao Yun
authors.initials: XY
authors.lastname: Zhang
authors.forename: Asangla
authors.initials: A
authors.lastname: Ao
authors.forename: Seang Lin
authors.initials: SL
authors.lastname: Tan
authors.forename: Hananel
authors.initials: H
authors.lastname: Holzer
mesh_terms: D000328:Adult; D015925:Cryopreservation; D005260:Female; D006579:Heterozygote; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007248:Infertility, Male / Q000235:genetics*; D008297:Male; D054315:Oocyte Retrieval; D009865:Oocytes / Q000166:cytology / Q000502:physiology*; D011247:Pregnancy; D011256:Pregnancy Outcome; D019836:Preimplantation Diagnosis; D020554:Sperm Injections, Intracytoplasmic; D014178:Translocation, Genetic