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Prenatal Diagnosis for Primary Immunodeficiency Disorders—An Overview of the Indian Scenario

Authors :
Jahnavi Aluri
R Yadav
Suresh Seshadri
Prerna Jhawar
Umair Ahmed Bargir
Snehal Shabrish
Karthik Bharadwaj Tallapaka
Beena Guhan
Malathi Prasad
Manisha Madkaikar
Mukesh Desai
Sivasankar Malaischamy
B. Suresh
Manasi Kulkarni
Sagar Bhattad
Geeta Madathil Govindaraj
Revathi Raj
Vasundhara Tamhankar
Aparna Dalvi
Shilpa Mithbawkar
Jayarekha Raja
Ramya Uppuluri
Vandana Bansal
Gouri Hule
Harsha Prasada Lashkari
Sujatha Jagadeesh
Priyanka Ghosh
Priya Kadam
Parag M Tamhankar
Adinarayan Makam
Priyanka Kambli
Prasad Taur
Maya Gupta
Shweta Mahalingam
Source :
Frontiers in Immunology, Vol 11 (2020), Frontiers in Immunology
Publication Year :
2020
Publisher :
Frontiers Media S.A., 2020.

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.

Details

Language :
English
ISSN :
16643224
Volume :
11
Database :
OpenAIRE
Journal :
Frontiers in Immunology
Accession number :
edsair.doi.dedup.....0b80506245a1fa9161ff3995db89ade0
Full Text :
https://doi.org/10.3389/fimmu.2020.612316/full