Ante-natal counseling in phacomatoses
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ANNUAL ISSUE PAPER
Ante-natal counseling in phacomatoses Dana Brabbing-Goldstein 1,2,3 & Shay Ben-Shachar 3,4 Received: 22 May 2020 / Accepted: 23 June 2020 # Springer-Verlag GmbH Germany, part of Springer Nature 2020
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. Keywords Phacomatoses . Neurofibromatosis type 1 . Neurofibromatosis type 2 . Tuberosclerosis complex . Prenatal genetic diagnosis . Amniocentesis . Chorionic villi sampling . Preimplantation genetic testing . Germline gene editing . Prenatal genetic counseling
Introduction Phacomatoses are a group of neurocutaneous disorders involving structures arising from the embryonic ectoderm. While different phacomatoses have different characterizations, many share common features including specific brain morphology, affecting its function, tumor predisposition, and skin findings. Still, each phacomatosis has its own nature and the diagnosis of the exact phacomatosis is mostly straightforward. Phacomatoses include the following: neurofibromatosis type 1 (NF1, MIM #162200), neurofibromatosis type 2 (NF2, MIM #162200), tuberous * Shay Ben-Shachar [email protected] 1
Genetic Institute, Tel Aviv Medical Center, Tel Aviv, Israel
2
Department of Obstetrics and Gynecology, The Lis Maternity Hospital, Tel Aviv University, Tel Aviv, Israel
3
Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel
4
Clalit Research Institute, & Schneider Children’s Medical Center, Ramat-Gan, Israel
sclerosis complex (TSC MIM #191100), Von HippelLindau syndrome (MIM#193300), and Sturge-Weber syndrome (MIM #185300) among others. Most phacomatoses are autosomal dominant monogenic disorders. In some of the phacomatoses, i.e., Sturge-Weber syndrome, the causative mutation is always somatic, involving only part of the
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