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

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.

SUBMITTER: Yadav RM

PROVIDER: S-EPMC7750517 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature

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

Yadav Reetika Malik RM Gupta Maya M Dalvi Aparna A Bargir Umair Ahmed UA Hule Gouri G Shabrish Snehal S Aluri Jahnavi J Kulkarni Manasi M Kambli Priyanka P Uppuluri Ramya R Seshadri Suresh S Jagadeesh Sujatha S Suresh Beena B Raja Jayarekha J Taur Prasad P Malaischamy Sivasankar S Ghosh Priyanka P Mahalingam Shweta S Kadam Priya P Lashkari Harsha Prasada HP Tamhankar Parag P Tamhankar Vasundhara V Mithbawkar Shilpa S Bhattad Sagar S Jhawar Prerna P Makam Adinarayan A Bansal Vandana V Prasad Malathi M Govindaraj Geeta G Guhan Beena B Bharadwaj Tallapaka Karthik K Desai Mukesh M Raj Revathi R Madkaikar Manisha Rajan MR

Frontiers in immunology 20201207

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 ...[more]

PMID: 33365035

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Project description:Early detection of Primary Immunodeficiencies Disorders (PIDDs) is of paramount importance for effective treatment and disease management. Many PIDDs would be strong candidates for newborn screening (NBS) if robust screening methods could identify patients from dried blood spots (DBS) during the neonatal period. As majority of congenital PIDDs result in the reduction or absence of specific proteins, direct quantification of these target proteins represents an attractive potential screening tool. Unfortunately, detection is often limited by the extremely low protein concentrations in blood cells and limited blood volume present in DBS. We have recently developed a robust novel method for quantification of low abundance proteins in DBS for PIDDs using peptide immunoaffinity enrichment coupled to selected reaction monitoring (immuno-SRM). Here, we further generated a multiplexed Immuno-SRM panel for simultaneous screening of eight signature peptides representing five PIDD-specific and two cell-type specific proteins from DBS. In samples from 28 PIDD patients including two carriers, representing X-Linked Agammaglobulinemia (XLA), Wiskott-Aldrich Syndrome (WAS), X-Linked Chronic Granulomatous Disease (XL-CGD), DOCK8 Deficiency and ADA deficiency, peptides representing each disease are significantly reduced relative to normal controls and patient identification had excellent agreement with clinical and molecular diagnosis. Also included in the multiplex panel are cell specific markers for platelets (CD42) and Natural Killer Cells (CD56). In patients with WAS, CD42 levels were found to be significantly reduced consistent with characteristic thrombocytopenia. A patient with WAS analyzed before and after bone marrow transplant showed normalized WAS protein and platelet CD42 after treatment highlighting the ability of immuno-SRM to monitor the effects of PIDD treatment. The assay was readily reproduced in two separate laboratories with similar analytical performance and complete agreement in patient diagnosis demonstrating the effective standardized methods. A high-throughput Immuno-SRM method screens PIDD-specific peptides in a 2.5-min runtime meeting high volume NBS workflow requirements was also demonstrated in this report. This high-throughput method returned identical results to the standard Immuno-SRM PIDD panel. Immuno-SRM peptide analysis represents a robust potential clinical diagnostic for identifying and studying PIDD patients from easily collected and shipped DBS and supports a significant potential for early PIDD diagnosis through newborn screening.

Dataset Information

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

Publications

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

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