This article has been accepted for publication and undergone full peer review but has not been through the copyediting, typesetting, pagination and proofreading process which may lead to differences between this version and the Version of Record. Please cite this article as doi: 10.1002/pd.5616 This article is protected by copyright. All rights reserved. Aggarwal Shagun (Orcid ID: 0000-0001-8738-9888) Das Bhowmik Aneek (Orcid ID: 0000-0003-3318-8268) Title: Exome sequencing for perinatal phenotypes: the significance of deep phenotyping Shagun Aggarwal 1,2* , Venugopal Satidevi Vineeth 2* , Aneek Das Bhowmik 2 , Ashwani Tandon 3 , Aditya Kulkarni 4 , Dhanya Lakshmi Narayanan 1,2, Amrita Bhattacherjee 2 , Ashwin Dalal 1,2 1: Department of Medical Genetics, Nizam's Institute of Medical Sciences, Hyderabad, India 2: Diagnostics Division, Centre for DNA Fingerprinting & Diagnostics, Hyderabad, India 3: Department of Pathology, All India Institute of Medical Sciences, Bhopal,India 4: Department of Pathology, Apollo Hospitals, Hyderabad, India *Shagun Aggarwal and V S Vineeth have contributed equally Corresponding Author Dr Shagun Aggarwal, Department of Medical Genetics, Nizam's Institute of Medical Sciences, Punjagutta, Hyderabad, Telangana-500082, India. E-mail addresses: shagun.genetics@gmail.com, shagun@cdfd.org.in Running head: Importance of Deep phenotyping in Fetal Exome sequencing Word count: 3779 Figures: 1, Tables: 2 Supplementary figure: 1, Supplementary tables:2 What’s already known about this topic  Exome sequencing has a variable diagnostic yield of 6-80% in fetuses with abnormal perinatal phenotypes  There are various challenges in clinical translation of this technology  ES also helps in identification of novel Mendelian phenotypes and expansion of prenatal phenotypes of known disorders