title: Polymerase chain reaction-based detection of chromosomal imbalances on embryos: the evolution of preimplantation genetic diagnosis for chromosomal translocations.
abstract: OBJECTIVE
  To develop and assess a polymerase chain reaction (PCR)-based preimplantation genetic diagnosis (PGD) approach for detection of chromosomal imbalances in embryos.
  
  
  METHODS
  A prospective study of embryos derived from chromosome translocation carriers that have undergone PGD using a novel molecular-based approach.
  
  
  METHODS
  A reference molecular genetics laboratory specialized in the provision of transport PGD services and a private IVF clinic.
  
  
  METHODS
  Twenty-seven couples carrying 12 different reciprocal translocations and 2 Robertsonian translocations.
  
  
  METHODS
  Preimplantation genetic diagnosis from chromosome translocation carriers on blastomeres biopsied from cleavage stage embryos.
  
  
  METHODS
  Embryo diagnosis rate, pregnancy rate (PR), implantation rate, take-home-baby rate.
  
  
  RESULTS
  Overall, 241/251 (96.0%) embryos were successfully diagnosed for chromosome rearrangements. Preimplantation genetic screening was included in the protocol of 12 couples, involving analysis of 90 embryos, 84 (93.3%) of which were successfully diagnosed and 53 (63.1%) showed aneuploidies. Embryos suitable for transfer were identified in 24 cycles. Eighteen couples achieved a clinical pregnancy (75.0% PR/embryo transfer), with a total of 31 embryos implanted (59.6% implantation rate). Ten patients (1 triplet, 1 twin, and 8 singleton pregnancies) have delivered 13 healthy babies, and the other patients (3 twins and 5 singletons) have currently ongoing pregnancies.
  
  
  CONCLUSIONS
  The PCR-based PGD protocol for translocations has the potential to overcome several inherent limitations of fluorescence in situ hybridization-based tests, providing potential improvements in terms of test performance, automation, turnaround time, sensitivity, and reliability.
authors.affiliation: "GENOMA," Molecular Genetics Laboratory, Rome, Italy. fiorentino@laboratoriogenoma.it
authors.forename: Francesco
authors.initials: F
authors.lastname: Fiorentino
authors.forename: Georgia
authors.initials: G
authors.lastname: Kokkali
authors.forename: Anil
authors.initials: A
authors.lastname: Biricik
authors.forename: Dimitri
authors.initials: D
authors.lastname: Stavrou
authors.forename: Bahar
authors.initials: B
authors.lastname: Ismailoglu
authors.forename: Rosangela
authors.initials: R
authors.lastname: De Palma
authors.forename: Lucia
authors.initials: L
authors.lastname: Arizzi
authors.forename: Gary
authors.initials: G
authors.lastname: Harton
authors.forename: Mariateresa
authors.initials: M
authors.lastname: Sessa
authors.forename: Kostantinos
authors.initials: K
authors.lastname: Pantos
mesh_terms: D000328:Adult; D001755:Blastocyst / Q000166:cytology / Q000378:metabolism*; D002869:Chromosome Aberrations / Q000196:embryology; D020732:Cytogenetic Analysis / Q000379:methods / Q000639:trends; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D008297:Male; D008423:Maternal Age; D008875:Middle Aged; D016133:Polymerase Chain Reaction / Q000379:methods*; D011247:Pregnancy; D019836:Preimplantation Diagnosis / Q000379:methods / Q000639:trends*; D014178:Translocation, Genetic