Rare Diseases Symptoms Automatic Extraction

Nucleic acid-based non-invasive prenatal diagnosis of genetic skin diseases: are we ready?

[lamellar ichthyosis]

The discovery of circulating fetal nucleic acids is a great step on the way of developing non-invasive prenatal diagnosis (NIPD) for genetic disorders. Here, we briefly discuss the current applications of circulating fetal nucleic acids in genetic testing for different kinds of hereditary diseases with an emphasis on using circulating cell-free fetal DNA in diagnosis of monogenic disorders. As the genetic skin disorders impair the quality of life at different levels, we next discuss some ethical issues in NIPD for genetic skin diseases of various severities and in particular, the responsibility of doctors and parents, respectively, in the prenatal genetic testing.

Diseases presenting "skin diseases" symptom

  • cutaneous mastocytosis
  • dentinogenesis imperfecta
  • dracunculiasis
  • dystrophic epidermolysis bullosa
  • epidermolysis bullosa simplex
  • erythropoietic protoporphyria
  • fabry disease
  • harlequin ichthyosis
  • inclusion body myositis
  • junctional epidermolysis bullosa
  • kindler syndrome
  • lamellar ichthyosis
  • oculocutaneous albinism
  • papillon-lefèvre syndrome
  • sneddon syndrome
  • systemic capillary leak syndrome

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