Open AccessPregnancy in a Patient with RETT SYNDROME Mutation: Dilemmas in Management
Author(s) -
Srimathy Raman,
Harshala Shankar,
Priyanka Shekarappa,
Savitha Shirodkar,
Padmalatha Venkataram
Publication year - 2021
Publication title -
global journal of medical research
Language(s) - English
Resource type - Journals
eISSN - 2249-4618
pISSN - 0975-5888
DOI - 10.34257/gjmrevol21is3pg29
Subject(s) - rett syndrome , mecp2 , pregnancy , mutation , neurodevelopmental disorder , medicine , genetic testing , pediatrics , genetics , genetic disorder , bioinformatics , psychiatry , gene , autism , biology , phenotype
Rett syndrome, a neurodevelopmental disorder is caused by MECP2 gene mutations inherited sporadically or x linked dominant fashion. It almost exclusively affects girls. Genetic testing can help in preventing recurrence by offering prenatal diagnosis in affected families. We discuss the case of a patient who had such a mutation and discuss her pregnancy outcomes.