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

Reetika Malik Yadav ,Priyanka Kambli,Sivasankar Malaischamy,Aparna Dalvi,Ramya Uppuluri,Sagar Bhattad,Priyanka Ghosh,Shweta Mahalingam,Vandana Bansal,Prerna Jhawar,Gouri Hule,Beena Guhan,Priya Kadam,Sujatha Jagadeesh,Jayarekha Raja,Vasundhara Tamhankar,Snehal Shabrish,Prasad Taur,Umair Ahmed Bargir,Suresh Seshadri,Karthik Bharadwaj Tallapaka,Revathi Raj,Jahnavi Aluri,Mukesh Desai,Harsha Prasada Lashkari,Manasi Kulkarni,Shilpa Mithbawkar ,M Shailaja Prasad ,Parag M Tamhankar ,Maya Gupta ,Geeta Govindaraj ,Adinarayana Makam ,Beena Suresh ,Manisha Madkaikar

doi:10.3389/fimmu.2020.612316

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.

Highlights

Primary immunodeficiency disorders (PIDs) are a heterogeneous group of single-gene disorders of the immune system with more than 450 distinct PIDs described in literature
India has a significant collective burden of genetic disorders which can be attributed to a high rate of consanguinity, which is generally observed in approximately 14% marriages according to the National Family Health Survey (NFHS-4) report 2015–16 [4,5,6]
Consanguinity was reported by 44% of the total couples seeking Prenatal Diagnosis (PND). 33% of fetuses among consanguineous marriages were found to be affected compared to 22% affected fetuses in non-consanguineous marriages

Summary

INTRODUCTION

Primary immunodeficiency disorders (PIDs) are a heterogeneous group of single-gene disorders of the immune system with more than 450 distinct PIDs described in literature. Other forms of supportive therapy like regular intravenous immunoglobulin transfusions and prophylactic antibiotics especially for patients with X-linked Agammaglobulinemia (XLA) and Chronic Granulomatous Disease (CGD) may result in long-term survival but are associated with a poor quality of life and a prohibitive cost. This poses a significant financial and emotional burden on the family and society as a whole. In families having a child affected with PID, genetic counseling and PND are the cornerstones of primary preventive management. This paper highlights the PND services for PID available in India, the different techniques utilized, and their comparison, the challenges, and ethical considerations

MATERIALS AND METHODS

RESULT

DISCUSSION

Findings

ETHICS STATEMENT