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

Autor:	Yadav RM; Center of Excellence for PIDs, Department of Pediatric Immunology and Leucocyte Biology, ICMR-National Institute of Immunohaematology, Mumbai, India., Gupta M; Center of Excellence for PIDs, Department of Pediatric Immunology and Leucocyte Biology, ICMR-National Institute of Immunohaematology, Mumbai, India., Dalvi A; Center of Excellence for PIDs, Department of Pediatric Immunology and Leucocyte Biology, ICMR-National Institute of Immunohaematology, Mumbai, India., Bargir UA; Center of Excellence for PIDs, Department of Pediatric Immunology and Leucocyte Biology, ICMR-National Institute of Immunohaematology, Mumbai, India., Hule G; Center of Excellence for PIDs, Department of Pediatric Immunology and Leucocyte Biology, ICMR-National Institute of Immunohaematology, Mumbai, India., Shabrish S; Center of Excellence for PIDs, Department of Pediatric Immunology and Leucocyte Biology, ICMR-National Institute of Immunohaematology, Mumbai, India., Aluri J; Center of Excellence for PIDs, Department of Pediatric Immunology and Leucocyte Biology, ICMR-National Institute of Immunohaematology, Mumbai, India., Kulkarni M; Center of Excellence for PIDs, Department of Pediatric Immunology and Leucocyte Biology, ICMR-National Institute of Immunohaematology, Mumbai, India., Kambli P; Center of Excellence for PIDs, Department of Pediatric Immunology and Leucocyte Biology, ICMR-National Institute of Immunohaematology, Mumbai, India., Uppuluri R; Department of Pediatric Hematology-Oncology, Blood Marrow Transplantation, Apollo Hospitals, Chennai, India., Seshadri S; Department of Clinical Genetics & Genetic Counseling, Mediscan Systems, Chennai, India., Jagadeesh S; Department of Clinical Genetics & Genetic Counseling, Mediscan Systems, Chennai, India., Suresh B; Department of Clinical Genetics & Genetic Counseling, Mediscan Systems, Chennai, India., Raja J; Department of Clinical Genetics & Genetic Counseling, Mediscan Systems, Chennai, India., Taur P; Department of Immunology and Department of Pediatric Hemato-Oncology, Bai Jerbai Wadia Hospital for Children, Mumbai, India., Malaischamy S; MedGenome Labs Private Limited, Bangalore, India., Ghosh P; MedGenome Labs Private Limited, Bangalore, India., Mahalingam S; MedGenome Labs Private Limited, Bangalore, India., Kadam P; MedGenome Labs Private Limited, Bangalore, India., Lashkari HP; Department of Pediatrics, Kasturba Medical College Hospital, Manipal Academy of Higher Education, Mangalore, India., Tamhankar P; Centre for Medical Genetics, Mumbai, India., Tamhankar V; Centre for Medical Genetics, Mumbai, India., Mithbawkar S; Centre for Medical Genetics, Mumbai, India., Bhattad S; Division of Pediatric Immunology and Rheumatology, Department of Pediatrics, Aster CMI Hospital, Bangalore, India., Jhawar P; Department of Fetal Medicine, Motherhood Hospital, Bangalore, India., Makam A; Department of Fetal Medicine, Adi Advanced Centre for Fetal Care, Bangalore, India., Bansal V; Fetal Medicine Department Surya Hospitals, Mumbai, India., Prasad M; Fetal Medicine Centre, Trichy, India., Govindaraj G; Department of Pediatrics, Government Medical College, Kozhikode, Calicut, India., Guhan B; Department of Pediatrics, Government Medical College, Kozhikode, Calicut, India., Bharadwaj Tallapaka K; CSIR-Centre for Cellular and Molecular Biology (CSIR-CCMB), Hyderabad, India., Desai M; Department of Immunology and Department of Pediatric Hemato-Oncology, Bai Jerbai Wadia Hospital for Children, Mumbai, India., Raj R; Department of Pediatric Hematology-Oncology, Blood Marrow Transplantation, Apollo Hospitals, Chennai, India., Madkaikar MR; Center of Excellence for PIDs, Department of Pediatric Immunology and Leucocyte Biology, ICMR-National Institute of Immunohaematology, Mumbai, India.
Jazyk:	angličtina
Zdroj:	Frontiers in immunology [Front Immunol] 2020 Dec 07; Vol. 11, pp. 612316. Date of Electronic Publication: 2020 Dec 07 (Print Publication: 2020).
DOI:	10.3389/fimmu.2020.612316
Abstrakt:	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. Competing Interests: 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. (Copyright © 2020 Yadav, Gupta, Dalvi, Bargir, Hule, Shabrish, Aluri, Kulkarni, Kambli, Uppuluri, Seshadri, Jagadeesh, Suresh, Raja, Taur, Malaischamy, Ghosh, Mahalingam, Kadam, Lashkari, Tamhankar, Tamhankar, Mithbawkar, Bhattad, Jhawar, Makam, Bansal, Prasad, Govindaraj, Guhan, Bharadwaj Tallapaka, Desai, Raj and Madkaikar.)
Databáze:	MEDLINE
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