Global Journal of Medical Research, E: Gynecology and Obstetrics, Volume 21 Issue 3

© 2021. Dr. Srimathy Raman, Dr. Harshala Shankar, Dr. Priyanka Shekarappa, Dr. Savitha Shirodkar & Dr. Padmalatha Venkataram. This is a research/review paper, distributed under the terms of the Creative Commons Attribution-Noncommercial 3.0 Unported License http://creativecommons.org/licenses/by-nc/3.0/ ), permitting all non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited. Pregnancy in a Patient with RETT SYNDROME Mutation: Dilemmas in Management By Dr. Srimathy Raman, Dr. Harshala Shankar, Dr. Priyanka Shekarappa, Dr. Savitha Shirodkar & Dr. Padmalatha Venkataram PregnancyinaPatientwithRETTSYNDROMEMutationDilemmasinManagement Strictly as per the compliance and regulations of: Global Journal of Medical Research : E Gynecology and Obstetrics Volume 21 Issue 3 Version 1.0 Year 2021 Type: Double Blind Peer Reviewed International Research Journal Publisher: Global Journals Online ISSN: 2249-4618 & Print ISSN: 0975-5888 Abstract- 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. Keywords: Rett syndrome; MECP2 mutation; Neuro-developmental; X linked dominant, skewing; genetic counseling; exome sequencing. GJMR-E Classification: NLMC Code: WQ 240