title: Avoiding transmitting identified mutations to offspring using preimplantation genetic diagnosis.
abstract: BACKGROUND
  Preimplantation genetic diagnosis has been used to decrease or avoid the risk of transmitting identified mutations to offspring.
  
  
  METHODS
  A 29-year-old woman with spondyloepiphyseal dysplasia congenita and her 30-year-old husband with Marfan syndrome underwent in vitro fertilization with preimplantation genetic diagnosis. Two mutation-negative embryos were transferred into a gestational carrier, who became pregnant with twins and delivered two clinically normal neonates.
  
  
  CONCLUSIONS
  Statistically, this couple would be predicted to have a 75% chance of producing an affected embryo. Using preimplantation genetic diagnosis, two dually unaffected embryos were selected and transferred. This experience expands the use of preimplantation genetic diagnosis to cases with multiple autosomal dominant single-gene disorders.
authors.affiliation: From the Department of Obstetrics and Gynecology/Reproductive Endocrinology and Infertility, Beth Israel Deaconess Medical Center, Boston, Massachusetts; Boston IVF, Waltham, Massachusetts; Genesis Genetics Institute, Applied Genomic Technology Center of Michigan, Detroit, Michigan; and Eastern Virginia Medical School, Division of Medical Genetics and Metabolism, Norfolk, Virginia.
authors.forename: Laura P
authors.initials: LP
authors.lastname: Smith
authors.forename: Mark R
authors.initials: MR
authors.lastname: Hughes
authors.forename: Ilango
authors.initials: I
authors.lastname: Thirumoorthi
authors.forename: Virginia K
authors.initials: VK
authors.lastname: Proud
authors.forename: Alan S
authors.initials: AS
authors.lastname: Penzias
mesh_terms: D000328:Adult; D024043:Collagen Type II / Q000235:genetics; D005260:Female; D005307:Fertilization in Vitro; D000071837:Fibrillins; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D008382:Marfan Syndrome / Q000235:genetics*; D008840:Microfilament Proteins / Q000235:genetics; D009154:Mutation; D010009:Osteochondrodysplasias / Q000151:congenital / Q000235:genetics*; D019836:Preimplantation Diagnosis; D013533:Gestational Carriers; D014427:Twins
chemical_list: C499177:COL2A1 protein, human; D024043:Collagen Type II; D000071837:Fibrillins; D008840:Microfilament Proteins