title: Preimplantation genetic diagnosis of X-linked diseases examined by indirect linkage analysis.
abstract: BACKGROUND
  Many centers of assisted reproduction in the Czech Republic offer preimplantation genetic diagnosis with fluorescent in situ hybridization (FISH) to couples requiring preimplantation genetic diagnosis (PGD) of X-linked diseases. However, this process results in discarding all male embryos and is not able to distinguish a carrier or healthy female embryo in X-linked recessive disorders.
  
  
  OBJECTIVE
  The main aim of this study was to summarize a six-year period of PGD of X-linked monogenic diseases using indirect linkage analysis.
  
  
  RESULTS
  We wanted to accentuate the advantage indirect analysis of PGD using multiple displacement amplification (MDA) followed by short tandem repeat (STR) analysis. We present forty-six PGD cycles, including pre-case haplotyping (PGH) panel, for fifteen X-linked diseases. Embryo transfer was made thirty-eight times and gravidity was confirmed in thirteen female probands with a success rate of pregnancy calculated at 42 %.
  
  
  CONCLUSIONS
  PGD procedure using MDA amplification followed by STR analysis provides help in identifying genetic defects within embryos prior to implantation. The reliability of the method was also supported by high pregnancy rate compared to other publications, which commonly achieved a 30-35 % success rate (Tab. 2, Fig. 1, Ref. 33).
authors.forename: I
authors.initials: I
authors.lastname: Borgulova
authors.forename: M
authors.initials: M
authors.lastname: Putzova
authors.forename: I
authors.initials: I
authors.lastname: Soldatova
authors.forename: L
authors.initials: L
authors.lastname: Krautova
authors.forename: L
authors.initials: L
authors.lastname: Pecnova
authors.forename: J
authors.initials: J
authors.lastname: Mika
authors.forename: R
authors.initials: R
authors.lastname: Kren
authors.forename: P
authors.initials: P
authors.lastname: Potuznikova
authors.forename: D
authors.initials: D
authors.lastname: Stejskal
mesh_terms: D000328:Adult; D015331:Cohort Studies; D018153:Czech Republic; D004624:Embryo Transfer; D005260:Female; D005307:Fertilization in Vitro; D040181:Genetic Diseases, X-Linked / Q000175:diagnosis* / Q000235:genetics / Q000517:prevention & control; D008040:Genetic Linkage; D006239:Haplotypes; D006801:Humans; D008297:Male; D018895:Microsatellite Repeats; D009154:Mutation; D021141:Nucleic Acid Amplification Techniques; D011247:Pregnancy; D018873:Pregnancy Rate; D019836:Preimplantation Diagnosis / Q000379:methods*; D015203:Reproducibility of Results; D012189:Retrospective Studies
keywords: X-linked inheritance; haplotype analysis.; indirect diagnosis; single gene mutation