Prenatal Diagnosis for Primary Immunodeficiency Disorders—An Overview of the Indian Scenario
| Autor: | Jahnavi Aluri, R Yadav, Suresh Seshadri, Prerna Jhawar, Umair Ahmed Bargir, Snehal Shabrish, Karthik Bharadwaj Tallapaka, Beena Guhan, Malathi Prasad, Manisha Madkaikar, Mukesh Desai, Sivasankar Malaischamy, B. Suresh, Manasi Kulkarni, Sagar Bhattad, Geeta Madathil Govindaraj, Revathi Raj, Vasundhara Tamhankar, Aparna Dalvi, Shilpa Mithbawkar, Jayarekha Raja, Ramya Uppuluri, Vandana Bansal, Gouri Hule, Harsha Prasada Lashkari, Sujatha Jagadeesh, Priyanka Ghosh, Priya Kadam, Parag M Tamhankar, Adinarayan Makam, Priyanka Kambli, Prasad Taur, Maya Gupta, Shweta Mahalingam |
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| Jazyk: | angličtina |
| Rok vydání: | 2020 |
| Předmět: |
0301 basic medicine
lcsh:Immunologic diseases. Allergy medicine.medical_specialty chorionic villus sampling Primary Immunodeficiency Diseases Genetic counseling Immunology India Chorionic villus sampling Prenatal diagnosis 03 medical and health sciences 0302 clinical medicine Pregnancy medicine Humans Immunology and Allergy Genetic Testing Index case reproductive and urinary physiology variants of unknown significance Original Research 030219 obstetrics & reproductive medicine prenatal diagnosis medicine.diagnostic_test business.industry Obstetrics flow cytometry Genetic Diseases Inborn medicine.disease maternal contamination Indian scenario 030104 developmental biology Mutation Amniocentesis Primary immunodeficiency Female business lcsh:RC581-607 cordocentesis |
| Zdroj: | Frontiers in Immunology, Vol 11 (2020) Frontiers in Immunology |
| ISSN: | 1664-3224 |
| DOI: | 10.3389/fimmu.2020.612316/full |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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