Avoiding transmitting identified mutations to offspring using preimplantation genetic diagnosis

Obstet Gynecol. 2010 Feb;115(2 Pt 2):460-462. doi: 10.1097/AOG.0b013e3181c9b316.


Background: Preimplantation genetic diagnosis has been used to decrease or avoid the risk of transmitting identified mutations to offspring.

Case: 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.

Conclusion: 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.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Collagen Type II / genetics
  • Female
  • Fertilization in Vitro*
  • Fibrillins
  • Genes, Dominant
  • Humans
  • Male
  • Marfan Syndrome / genetics*
  • Microfilament Proteins / genetics
  • Mutation
  • Osteochondrodysplasias / congenital
  • Osteochondrodysplasias / genetics*
  • Preimplantation Diagnosis*
  • Surrogate Mothers*
  • Twins


  • COL2A1 protein, human
  • Collagen Type II
  • Fibrillins
  • Microfilament Proteins