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Review
. 2020 Dec 7:11:612316.
doi: 10.3389/fimmu.2020.612316. eCollection 2020.

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

Reetika Malik Yadav  1 , Maya Gupta  1 , Aparna Dalvi  1 , Umair Ahmed Bargir  1 , Gouri Hule  1 , Snehal Shabrish  1 , Jahnavi Aluri  1 , Manasi Kulkarni  1 , Priyanka Kambli  1 , Ramya Uppuluri  2 , Suresh Seshadri  3 , Sujatha Jagadeesh  3 , Beena Suresh  3 , Jayarekha Raja  3 , Prasad Taur  4 , Sivasankar Malaischamy  5 , Priyanka Ghosh  5 , Shweta Mahalingam  5 , Priya Kadam  5 , Harsha Prasada Lashkari  6 , Parag Tamhankar  7 , Vasundhara Tamhankar  7 , Shilpa Mithbawkar  7 , Sagar Bhattad  8 , Prerna Jhawar  9 , Adinarayan Makam  10 , Vandana Bansal  11 , Malathi Prasad  12 , Geeta Govindaraj  13 , Beena Guhan  13 , Karthik Bharadwaj Tallapaka  14 , Mukesh Desai  4 , Revathi Raj  2 , Manisha Rajan Madkaikar  1
Affiliations
Review

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

Reetika Malik Yadav et al. Front Immunol. .

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.

Keywords: chorionic villus sampling; cordocentesis; flow cytometry; maternal contamination; prenatal diagnosis; variants of unknown significance.

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Conflict of interest statement

SMal, PG, SMah, and PKad were employed by the company MedGenome Labs Private Limited. SJ, BS, and JR were employed by the company Mediscan Systems. The remaining authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.

Figures

Figure 1
Figure 1
Year-wise number of prenatal diagnosis (PND) conducted.
Figure 2
Figure 2
Comparing the application of different prenatal diagnostic techniques.
Figure 3
Figure 3
Summary of diagnosis in index case (n) and the result of PND (affected, unaffected, carrier).
See this image and copyright information in PMC

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