title: Preimplantation genetic diagnosis using FISH for carriers of Robertsonian translocations: the Portuguese experience.
abstract: Preimplantation genetic diagnosis (PGD) is an alternative to prenatal diagnosis for couples at risk of transmitting genetic disorders to their offspring. We present a fluorescence in situ hybridization (FISH) analysis of embryos obtained after seven PGD cycles in six couples with Robertsonian translocations and male factor infertility: 4 der(13;14), 1 der(14;21) and 1 der(15;21). Of 74 metaphase II (MII) injected oocytes, 61 (82.4%) fertilized normally and cleaved. Of these, 37/61 (60.7%) embryos were of high morphological quality with >or=6 blastomeres. After biopsy of 44 embryos at day 3 of development, seven degenerated, seven arrested in development and 30/44 (68.2%) evolved, of which 25/30 (83.3%) reached the morula/blastocyst stage. Analysis of biopsied blastomeres showed 23/44 (52.3%) of normal/balanced embryos, of which 15 (11 at the morula/blastocyst stage) were transferred in six cycles. One term pregnancy was achieved, which ended by cesarean section at 37 weeks of gestation, giving birth to two healthy newborn. Analysis of 49 embryos (excluding 12 inconclusive cases) showed a predominance of alternate segregation (38/49, 77.6%) over adjacent segregation (7/49, 14.3%), with one (2%) being a polyploid mosaic and three (6.1%) chaotic.
authors.affiliation: Department of Genetics, Faculty of Medicine, University of Porto, Porto, Portugal. calves@med.up.pt
authors.forename: Cláudia
authors.initials: C
authors.lastname: Alves
authors.forename: Mário
authors.initials: M
authors.lastname: Sousa
authors.forename: Joaquina
authors.initials: J
authors.lastname: Silva
authors.forename: Alberto
authors.initials: A
authors.lastname: Barros
mesh_terms: D000328:Adult; D005314:Embryonic and Fetal Development / Q000235:genetics*; D005260:Female; D006580:Genetic Carrier Screening; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007248:Infertility, Male / Q000235:genetics / Q000628:therapy; D008297:Male; D011174:Portugal; D011247:Pregnancy; D019836:Preimplantation Diagnosis / Q000379:methods*; D020554:Sperm Injections, Intracytoplasmic; D014178:Translocation, Genetic / Q000235:genetics*