ReviewFrontiers in immunology2020
Prenatal Diagnosis for Primary Immunodeficiency Disorders-An Overview of the Indian Scenario.
Review in Frontiers in immunology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 12 citations in OpenAlex.
- From variants to answers: The evolution of genetic counseling in IEI.Journal of human immunity · 2026Review
- Experiences from inborn errors of immunity registry of India: A preliminary report.The Indian journal of medical research · 2026Article
- Prenatal diagnosis of rare genetic disorders: fourteen years' experience of a tertiary genetic centre from India.Orphanet journal of rare diseases · 2025Article
- Case Report: A novel CIITA mutation causing MHC class II deficiency: first reported case in Morocco.Frontiers in immunology · 2025Article
- Recombinant IFN-γ1b Treatment in a Patient with Inherited IFN-γ Deficiency.Journal of clinical immunology · 2024Article
- Profile of 208 patients with inborn errors of immunity at a tertiary care center in South India.Clinical and experimental medicine · 2023Article
- Clinical Utility of Whole Exome Sequencing and Targeted Panels for the Identification of Inborn Errors of Immunity in a Resource-Constrained Setting.Frontiers in immunology · 2021Article
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Authors and funding
34 authors at 13 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
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.
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