title: Preimplantation genetic diagnosis for Marfan syndrome.
abstract: OBJECTIVE
  To develop and apply efficient and reliable protocols for preimplantation genetic diagnosis (PGD) for Marfan syndrome.
  
  
  METHODS
  Two mutation-specific protocols were developed, and the markers D15S1028, D15S992, D15S196, D15S576, D15S123, and D15S143 were used to set up four multiplex polymerase chain reactions (PCRs).
  
  
  METHODS
  Research Center Reproduction and Genetics.
  
  
  METHODS
  Ten couples carrying mutations in the FBN1 gene.
  
  
  METHODS
  Six PGD protocols were developed for 10 couples, and 7 of them underwent a total of 16 clinical cycles.
  
  
  METHODS
  Amplification, allele drop-out (ADO), and contamination rates during the preclinical assays. DNA analyses of blastomeres from embryos biopsied during PGD cycles.
  
  
  RESULTS
  Six different protocols were set up, with the main objective being to to use one protocol for several couples. A total of 16 PGD cycles were performed, which resulted in the delivery of an unaffected boy and three ongoing pregnancies.
  
  
  CONCLUSIONS
  The development of single-cell multiplex PCRs for linked markers and its use in PGD reduce the workload of the genetic diagnostic laboratory as well as the average waiting time for patients. This approach also allows for the simultaneous and accurate detection of recombination, contamination, and ADO, thereby increasing the reliability of the diagnosis.
authors.affiliation: Research Center Reproduction and Genetics, Academisch Ziekenhuis, Vrije Universiteit Brussel, Brussels, Belgium.
authors.forename: Claudia
authors.initials: C
authors.lastname: Spits
authors.forename: Martine
authors.initials: M
authors.lastname: De Rycke
authors.forename: Willem
authors.initials: W
authors.lastname: Verpoest
authors.forename: Willy
authors.initials: W
authors.lastname: Lissens
authors.forename: Andre
authors.initials: A
authors.lastname: Van Steirteghem
authors.forename: Inge
authors.initials: I
authors.lastname: Liebaers
authors.forename: Karen
authors.initials: K
authors.lastname: Sermon
mesh_terms: D000328:Adult; D000483:Alleles; D001706:Biopsy; D001755:Blastocyst / Q000378:metabolism / Q000473:pathology; D001757:Blastomeres / Q000378:metabolism; D004247:DNA / Q000235:genetics; D005260:Female; D000071838:Fibrillin-1; D000071837:Fibrillins; D006579:Heterozygote; D006801:Humans; D007231:Infant, Newborn; D050498:Live Birth; D008297:Male; D008382:Marfan Syndrome / Q000175:diagnosis* / Q000235:genetics*; D008840:Microfilament Proteins / Q000235:genetics*; D018895:Microsatellite Repeats; D009154:Mutation; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D018873:Pregnancy Rate; D019836:Preimplantation Diagnosis / Q000379:methods*; D054392:Adipokines
chemical_list: D004247:DNA; D000071838:Fibrillin-1; D000071837:Fibrillins; D008840:Microfilament Proteins; C000605722:FBN1 protein, human; D054392:Adipokines