Genetic testing in Marfan syndrome

Br J Hosp Med (Lond). 2016 Jan;77(1):38-41. doi: 10.12968/hmed.2016.77.1.38.

Abstract

Genetic testing is aiding rapid diagnosis of Marfan syndrome as a basis for management of eye, heart and skeletal disease. The affected patient's mutation can be used as a basis for prenatal or postnatal diagnosis of offspring. Preimplantation genetic diagnosis, the technique of choice, can ensure an unaffected pregnancy.

Publication types

  • Review

MeSH terms

  • Amniocentesis / methods
  • Chorionic Villi Sampling / methods
  • Connective Tissue Diseases / genetics
  • Connective Tissue Diseases / physiopathology
  • Fibrillins
  • Genetic Testing / methods*
  • Humans
  • Marfan Syndrome / genetics*
  • Microfilament Proteins / genetics
  • Mutation
  • Phenotype
  • Preimplantation Diagnosis / methods
  • Prenatal Diagnosis / methods

Substances

  • Fibrillins
  • Microfilament Proteins