title: [First attempts in preimplantation genetic diagnosis: blastomere biopsy].
abstract: There is an increasing expectation from couples that serious inherited diseases should be recognized at the earliest stages of embryonic development. A valuable tool for early prenatal diagnosis, preimplantation genetic diagnosis (PGD), involves the removal of 1 or 2 blastomeres from an in vitro fertilized embryo with micromanipulator (blastomere biopsy) without affecting the viability of the embryo. Genetic analysis of the removed blastomeres is performed to determine whether the embryo carries the genes responsible for the examined disease. Based on the results of the genetic analysis it is possible to transfer only unaffected embryos to the uterus. In this study, the authors performed blastomere biopsy on 35 embryos at the 6-10 cells stage. A total of 104 blastomeres were analyzed. On follow-up, 64% of biopsied embryos were cleaved and 43% developed to the morula or blastocyst stage. The introduction of this new procedure into the field of assisted reproduction can provide an alternative for couples who do not want to give birth to children affected by a genetic disease but would reject induced abortion after a positive prenatal diagnosis.
authors.affiliation: Altalános Orvostudományi Kar, I. sz. Szülészeti és Nógyógyászati Klinika, Semmelweis Egyetem, Budapest.
authors.forename: P
authors.initials: P
authors.lastname: Fancsovits
authors.forename: Z
authors.initials: Z
authors.lastname: Bán
authors.forename: G Z
authors.initials: GZ
authors.lastname: Tóthné
authors.forename: J
authors.initials: J
authors.lastname: Urbancsek
authors.forename: Z
authors.initials: Z
authors.lastname: Papp
mesh_terms: D000028:Abortion, Induced; D001706:Biopsy; D001757:Blastomeres; D020732:Cytogenetic Analysis; D005260:Female; D006801:Humans; D025202:Molecular Diagnostic Techniques; D011247:Pregnancy; D019836:Preimplantation Diagnosis / Q000379:methods*; D011296:Prenatal Diagnosis; D011322:Primary Prevention
vernacular_title: Elsó lépéseink a praeimplantatiós genetikai diagnosztikában: blastomerabiopsia.