Ante-natal counseling in phacomatoses.
Childs Nerv Syst
; 36(10): 2269-2277, 2020 10.
Article
em En
| MEDLINE
| ID: mdl-32623496
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.Palavras-chave
Texto completo:
1
Bases de dados:
MEDLINE
Assunto principal:
Síndromes Neurocutâneas
Tipo de estudo:
Diagnostic_studies
Limite:
Child
/
Female
/
Humans
/
Pregnancy
Idioma:
En
Revista:
Childs Nerv Syst
Assunto da revista:
NEUROLOGIA
/
PEDIATRIA
Ano de publicação:
2020
Tipo de documento:
Article
País de afiliação:
Israel