Preimplantation genetic diagnosis for cancer predisposition

Reprod Biomed Online. Sep-Oct 2002;5(2):148-55. doi: 10.1016/s1472-6483(10)61617-3.


Preimplantation genetic diagnosis (PGD) has recently been offered for couples with an inherited predisposition for late onset disorders. This paper presents the results of PGD for a group of couples at risk for producing children with cancer predisposition. Using a standard IVF procedure, oocytes or embryos were tested for different mutations predisposing to cancer, preselecting and transferring only mutation-free embryos back to the patients. The procedure was performed for patients with predisposition to familial adenomatous polyposis coli (FAP), Von Hippel-Lindau syndrome (VHL), retinoblastoma, Li-Fraumeni syndrome, determined by p53 tumour suppressor gene mutations, neurofibromatosis types I and II and familial posterior fossa brain tumour (hSNF5). Overall, 20 PGD cycles were performed for 10 couples, resulting in preselection and transfer of 40 mutation-free embryos, which resulted in five unaffected clinical pregnancies and four healthy children born by the present time. Despite the controversy of PGD use for late onset disorders, the data demonstrate the usefulness of this approach as the only acceptable option for at-risk couples to avoid the birth of children with an inherited predisposition to cancer, and to have a healthy child.

MeSH terms

  • Adenomatous Polyposis Coli / genetics
  • Base Sequence
  • Blastocyst / cytology
  • Blastocyst / pathology
  • Blastocyst / physiology*
  • Brain Neoplasms / genetics
  • Chromosomal Proteins, Non-Histone
  • DNA-Binding Proteins / genetics
  • Eye Neoplasms / genetics
  • Female
  • Genes, APC
  • Genetic Predisposition to Disease / genetics*
  • Humans
  • Male
  • Neoplasms / genetics*
  • Pedigree
  • Polymorphism, Restriction Fragment Length
  • Prenatal Diagnosis / methods
  • Restriction Mapping
  • Retinoblastoma / genetics
  • SMARCB1 Protein
  • Sequence Deletion
  • Transcription Factors / genetics
  • von Hippel-Lindau Disease / genetics


  • Chromosomal Proteins, Non-Histone
  • DNA-Binding Proteins
  • SMARCB1 Protein
  • SMARCB1 protein, human
  • Transcription Factors