139. Prenatal Diagnosis of Inherited Skin Disorders

  1. Alan D. Irvine MD, FRCPI, FRCP2,3,
  2. Peter H. Hoeger MD4,5 and
  3. Albert C. Yan MD, FAAP, FAAD6,7
  1. John A. McGrath MD, FRCP

Published Online: 24 MAY 2011

DOI: 10.1002/9781444345384.ch139

Harper's Textbook of Pediatric Dermatology, Volume 1, 2, Third Edition

Harper's Textbook of Pediatric Dermatology, Volume 1, 2, Third Edition

How to Cite

McGrath, J. A. (2011) Prenatal Diagnosis of Inherited Skin Disorders, in Harper's Textbook of Pediatric Dermatology, Volume 1, 2, Third Edition (eds A. D. Irvine, P. H. Hoeger and A. C. Yan), Wiley-Blackwell, Oxford, UK. doi: 10.1002/9781444345384.ch139

Editor Information

  1. 2

    Trinity College, Dublin, Ireland

  2. 3

    Our Lady's Children's Hospital, Dublin, Ireland

  3. 4

    University of Hamburg, Hamburg, Germany

  4. 5

    Catholic Children's Hospital Wilhelmstift, Hamburg, Germany

  5. 6

    University of Pennsylvania School of Medicine, Philadelphia, PA, USA

  6. 7

    The Children's Hospital of Philadelphia, Philadelphia, PA, USA

Author Information

  1. St John's Institute of Dermatology, St Thomas' Hospital and King's College, London, London, UK

Publication History

  1. Published Online: 24 MAY 2011
  2. Published Print: 3 JUN 2011

ISBN Information

Print ISBN: 9781405176958

Online ISBN: 9781444345384

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Keywords:

  • prenatal diagnosis - of inherited skin disorders;
  • prenatal diagnosis, detection - exclusion of hereditary disease, in utero;
  • prenatal testing, and genodermatoses - well established;
  • molecular pathology, dystrophic epidermolysis bullosa - inherited skin disorders;
  • development of DNA-based prenatal diagnostic testing;
  • DNA-based prenatal diagnosis - by mutation analysis;
  • DNA-based prenatal testing;
  • fetal skin biopsy, fetal tissue sampling - direct visualization of fetus;
  • fetal skin biopsy, congenital bullous ichthyosiform erythroderma - Herlitz junctional EB;
  • preimplantation genetic diagnosis (PGD) - single cell removal, heritable condition

Summary

This chapter contains sections titled:

  • Introduction

  • Progress in molecular genetics

  • Development of DNA - based prenatal diagnostic testing

  • Practical aspects of DNA - based prenatal diagnosis

  • Fetal skin biopsy

  • Preimplantation genetic diagnosis

  • Non - invasive prenatal diagnosis

  • Ethical issues in prenatal testing

  • References