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Ante-natal counseling in phacomatoses

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Abstract

Objectives

Phacomatoses are a group of neuro-oculo-cutaneous syndromes/ neurocutaneous disorders, involving structures arising from the embryonic ectoderm. Most of phacomatoses including the most common ones:, neurofibromatosis type I and type II (NF1, NF2) and tuberosclerosis complex (TSC), are autosomal dominant genetic disorders with full penetrance and variable expression. As no effective treatment exists, the only way to prevent the disease, is by prenatal genetic diagnosis (either chorionic villus sampling-CVS or amniocentesis-AC) and termination of pregnancy or performing preimplantation genetic testing (PGT). As the risk for an affected offspring is 50% in every pregnancy of an affected parent, prenatal, and preimplantation testing are of great importance. However, those procedures are associated with technical and ethical concerns. This chapter shortly reviews the common phacomatoses emphasizes their genetics and inheritance. We will review the common methods for prenatal and preimplantation diagnoses and discuss its use in common phacomatoses.

Conclusion

Phacomatoses are common autosomal dominant genetic conditions with variable expression. Ante-natal genetic diagnosis is an appropriate approach for family planning in individuals affected by phacomatosis or parents of an affected child.

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Authors and Affiliations

  1. Genetic Institute, Tel Aviv Medical Center, Tel Aviv, Israel

    Dana Brabbing-Goldstein

  2. Department of Obstetrics and Gynecology, The Lis Maternity Hospital, Tel Aviv University, Tel Aviv, Israel

    Dana Brabbing-Goldstein

  3. Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel

    Dana Brabbing-Goldstein & Shay Ben-Shachar

  4. Clalit Research Institute, & Schneider Children’s Medical Center, Ramat-Gan, Israel

    Shay Ben-Shachar

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  1. Dana Brabbing-Goldstein
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Brabbing-Goldstein, D., Ben-Shachar, S. Ante-natal counseling in phacomatoses. Childs Nerv Syst 36, 2269–2277 (2020). https://doi.org/10.1007/s00381-020-04776-3

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