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Prenatal Diagnosis of Epidermolysis Bullosa: Current Aspects and Perspectives

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Blistering Diseases

Abstract

Inherited EB is a heterogeneous group of blistering diseases leading to often severe and sometimes life-threatening phenotypes. There is currently no specific treatment for EB, and prenatal diagnosis (PND) is often justified. PND has spectacularly benefitted from the identification of 18 different EB genes and the description of genotype-phenotype correlations. The geneticist and the genetic counsellor play essential roles in PND of EB, for which inter- and intrafamilial variability of disease severity has been described. Conventional early DNA-based diagnosis relies on mutation detection and haplotype segregation from chorionic villus sampling or amniotic fluid samples at 12 and 16 weeks of gestation, respectively. Genetic testing of the fetus allows to predict its disease status and to prevent the birth of a severely affected child. This method has been successfully applied to EB simplex, junctional EB and dystrophic EB. Preimplantation genetic diagnosis (PGD) is an alternative method which establishes the disease status of the embryos prior to their transfer. This procedure has been successfully applied to plakophilin deficiency, JEB and RDEB but is currently limited to highly specialised centres. Recent advances in non-invasive prenatal procedures include the analysis of fetal DNA from nucleated circulating fetal cells and cell-free fetal DNA. It is anticipated that these new approaches will find clinical application in EB. Finally, conventional early DNA-based PND is widely used for EB, whereas PID is still limited to very few centres and NIPD needs further development towards clinical practice. Genetic counselling and DNA-based PND represent essential aspects of clinical translation of gene identification to medical practice in inherited EB.

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Acknowledgements

We thank the French Ministry of Health and Debra-France for supporting molecular diagnosis and prenatal diagnosis of EB in our reference diagnostic centre. We are grateful to Elodie Tron and Geraldine Goudefroye for technical assistance and to Dr. Sophie Monnot, Prof. Jean-Paul Bonnefont and Prof. Arnold Munnich for their support.

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Authors and Affiliations

  1. INSERM UMR 1163, Laboratory of Genetic Skin Diseases, Hôpital Necker Enfants Malades, Paris, France

    Araksya Izmiryan PhD

  2. INSERM UMR 1163, Laboratory of Genetic Skin Diseases, Department of Genetics, Imagine Institute, University Paris Descartes Sorbonne Cité, Necker Hospital for Sick Children, Paris, France

    Alain Hovnanian MD, PhD

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  1. Araksya Izmiryan PhD
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  2. Alain Hovnanian MD, PhD
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Correspondence to Alain Hovnanian MD, PhD .

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Editors and Affiliations

  1. Department of Dermatology, St George Hospital, University of New South Wales, Sydney, New South Wales, Australia

    Dédée F. Murrell

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Izmiryan, A., Hovnanian, A. (2015). Prenatal Diagnosis of Epidermolysis Bullosa: Current Aspects and Perspectives. In: Murrell, D. (eds) Blistering Diseases. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-662-45698-9_20

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  • DOI: https://doi.org/10.1007/978-3-662-45698-9_20

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