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      Prevention is Better than Cure! Can We prevent Primary Immune Deficiency Diseases?

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          ABSTRACT

          Severe immune deficiencies are often fatal in young childhood unless recognized and treated with a hematopoietic stem cell transplant (HSCT) timely. The majority of the immune deficiencies are monogenic diseases and may affect multiple children in the affected family. While diagnoses and treatment of the affected child are of immediate priority, preventing these diseases in subsequent pregnancies is paramount. In this paper, we discuss the importance and ways of antenatal detection of inborn errors of immunity (IEI) and present a few case scenarios highlighting the need to consider different modalities for the diagnosis of these diseases in the fetus.

          How to cite this article

          Jhawar P, Singh N, Bhattad S. Prevention is Better than Cure! Can We prevent Primary Immune Deficiency Diseases?. Pediatr Inf Dis 2023;5(2):63-64.

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          ISUOG Practice Guidelines: invasive procedures for prenatal diagnosis.

          P Calda, T Ghi, N. Raine-Fenning … (2016)
          Article 0 comments Cited 47 times – based on 0 reviews     Review now
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            Prenatal screening for genetic disorders: Suggested guidelines for the Indian Scenario

            Shubha Phadke, Ratna Puri, Prajnya Ranganath (2017)
            Prenatal testing is the best strategy for reducing the burden of genetic disorders and congenital disabilities that cause significant postnatal functional impairment. Universal prenatal screening is advisable for common genetic disorders and congenital anomalies such as Down syndrome, beta-thalassaemia and neural tube defects. Several prenatal-screening tests are now available for Down syndrome, but knowledge about the appropriate timing of the test and the need for pre- and post-test counselling may not be updated among the primary care physicians. There is also a considerable degree of confusion regarding the prenatal screening test to be chosen in each case, due to the availability of a number of new and advanced screening techniques. At present, there is no nation-wide consensus regarding the nature and timing of these prenatal-screening protocols. Due to the absence of any definite guidelines and the additional lacunae in the awareness regarding the appropriate prenatal screening in the country, the optimum benefits of these screening protocols are not reaching the population. This review focuses on the various prenatal screening and diagnostic tests that are available for common genetic conditions and congenital disabilities and attempts to outline the most cost-effective and gestational age-appropriate strategies for prenatal screening for the Indian healthcare set-up. The recommendations suggested would serve as a source guide for formulating prenatal-screening guidelines for reducing the incidence of common genetic disorders and congenital disabilities in India.
            Article 0 comments Cited 17 times – based on 0 reviews     Review now
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              Author and article information

              Journal
              Journal ID (publisher-id): PID
              Title: Pediatric Infectious Disease
              Abbreviated Title: PID
              Publisher: Jaypee Brothers Medical Publishers
              ISSN (Electronic): 2582-4988
              Publication date (Print): April-June 2023
              Volume: 5
              Issue: 2
              Pages: 63-64
              Affiliations
              [1 ]Department of Fetal Medicine, Rainbow Hospitals, Hebbal, Bengaluru, Karnataka, India
              [2,3 ]Department of Pediatrics, Division of Pediatric Immunology and Rheumatology, Aster CMI Hospital, Bengaluru, Karnataka, India
              Author notes
              Sagar Bhattad, Department of Pediatrics, Division of Pediatric Immunology and Rheumatology, Aster CMI Hospital, Bengaluru, Karnataka, India, Phone: +91 9779433934, e-mail: drsagarbhattad@ 123456gmail.com
              Article
              DOI: 10.5005/jp-journals-10081-1391
              SO-VID: 919c649f-67e0-40c1-91ef-9bef50d8aa06
              Copyright © Copyright © 2023; The Author(s).
              License:

              © The Author(s). 2023 Open Access This article is distributed under the terms of the Creative Commons Attribution 4.0 International License ( https://creativecommons.org/licenses/by-nc/4.0/), which permits unrestricted use, distribution, and non-commercial reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver ( http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.

              History
              Date received : 28 January 2023
              Date accepted : 23 March 2023
              Date: 30 June 2023
              Categories
              Subject: IMMUNOLOGY CORNER
              Custom metadata
              file-pdf pid-05-063.pdf

              ScienceOpen disciplines: Pediatrics
              Keywords: Cordocentesis,Chorionic villous,Amniocentesis,Sampling,Antenatal testing,Inborn Errors of immunity
              Data availability:
              ScienceOpen disciplines: Pediatrics
              Keywords: Cordocentesis, Chorionic villous, Amniocentesis, Sampling, Antenatal testing, Inborn Errors of immunity

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