Prenatal diagnosis of genodermatoses: current scope and future capabilities

Int J Dermatol. 2010 Apr;49(4):353-61. doi: 10.1111/j.1365-4632.2010.04344.x.

Abstract

The genodermatoses encompass a range of inheritable skin diseases that may be associated with significant mortality and long-term morbidity. In the past, options for prenatal diagnosis of these diseases were limited to fetal skin biopsy. As a result of recent leaps made in genetics and molecular biology, DNA-based prenatal diagnosis is now available for an increasing number of genodermatoses, and newer non-invasive methods are being developed that have the potential for tremendous future impact in dermatology. Dermatologists caring for patients with genodermatoses should be aware of the options for screening and prenatal testing and partake in a multi-disciplinary approach to patient care.

Publication types

  • Review

MeSH terms

  • Epidermolysis Bullosa / diagnosis
  • Fetal Diseases / diagnosis*
  • Fetus / physiology
  • Humans
  • Hyperkeratosis, Epidermolytic / diagnosis
  • Polymorphism, Genetic
  • Prenatal Diagnosis / methods*
  • Prenatal Diagnosis / trends
  • Skin Diseases, Genetic / diagnosis*
  • Ultrasonography, Prenatal