학술논문
Prenatal Diagnosis for Primary Immunodeficiency Disorders—An Overview of the Indian Scenario
Document Type
article
Author
Reetika Malik Yadav; Maya Gupta; Aparna Dalvi; Umair Ahmed Bargir; Gouri Hule; Snehal Shabrish; Jahnavi Aluri; Manasi Kulkarni; Priyanka Kambli; Ramya Uppuluri; Suresh Seshadri; Sujatha Jagadeesh; Beena Suresh; Jayarekha Raja; Prasad Taur; Sivasankar Malaischamy; Priyanka Ghosh; Shweta Mahalingam; Priya Kadam; Harsha Prasada Lashkari; Parag Tamhankar; Vasundhara Tamhankar; Shilpa Mithbawkar; Sagar Bhattad; Prerna Jhawar; Adinarayan Makam; Vandana Bansal; Malathi Prasad; Geeta Govindaraj; Beena Guhan; Karthik Bharadwaj Tallapaka; Mukesh Desai; Revathi Raj; Manisha Rajan Madkaikar
Source
Frontiers in Immunology, Vol 11 (2020)
Subject
Language
English
ISSN
1664-3224
Abstract
Prenatal Diagnosis (PND) forms an important part of primary preventive management for families having a child affected with primary immunodeficiency. Although individually sparse, collectively this group of genetic disorders represents a significant burden of disease. This paper discusses the prenatal services available for affected families at various centers across the country and the challenges and ethical considerations associated with genetic counseling. Mutation detection in the index case and analysis of chorionic villous sampling or amniocentesis remain the preferred procedures for PND and phenotypic analysis of cordocentesis sample is reserved for families with well-characterized index case seeking PND in the latter part of the second trimester of pregnancy. A total of 112 families were provided PND services in the last decade and the presence of an affected fetus was confirmed in 32 families. Post-test genetic counseling enabled the affected families to make an informed decision about the current pregnancy.