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We have taken every care to ensure that drug dosages and related medical advice in this book are accurate. However, drug and disinfectant dosages can change and are updated often, so always double-check dosages and procedures against a reliable, up-to-date formulary and the given drug’s documentation before administering it.

Congenital Disorders: Counseling and caring for children with congenital disorders

First published in 2009 by Bettercare. Updated: May 2010, May 2011 (layout), January 2015 (layout), April 2018 (significant changes). This version produced on 14 August 2025.

Text © Perinatal Education Trust 2009
Illustrations by Anne Westoby
Cover photograph by Damien Schumann

ISBN (print edition): 978-1-920218-41-6
ISBN (international paperback edition): 978-1-717897-73-2 ISBN (reflowable edition): 978-1-920218-93-5

Excluding content explicitly credited to others, this book is published under a Creative Commons Attribution Non-Commercial No Derivatives License. For details, see creativecommons.org/licenses/by-nc-nd/4.0.

This licence means you may share, copy and redistribute the material in any medium or format under the following terms:

  • Attribution — You must give appropriate credit, provide a link to the licence, and indicate if changes were made. You may do so in any reasonable manner, but not in any way that suggests the licensor endorses you or your use.
  • Non-Commercial — You may not use the material for commercial purposes.
  • No Derivatives — If you remix, transform, or build upon the material, you may not distribute the modified material.

For any other uses, please contact Bettercare.

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      1. Home
      1. How to use our books
      2. Buy printed books
      3. About Bettercare
      4. FAQs
      5. Contact us
      1. Acknowledgements
      2. Introduction
        1. About Bettercare
        2. Why decentralised learning?
        3. Free Bettercare Online Learning Platform
        4. Learning programmes
        5. Format of the courses
        6. Contributors
        7. Updating the course material
        8. Contact information
        9. Registration
      3. 1 Introduction to congenital disorders
        1. Objectives
        2. Congenital disorders
        3. Causes of congenital disorders
        4. Chromosomal inheritance
        5. Inheritance of single gene defects
        6. Dominant inheritance
        7. Recessive inheritance
        8. Multifactorial congenital disorders
        9. Teratogens
        10. Different types of structural congenital disorders
        11. Case studies
      4. 2 Care, prevention and counselling
        1. Objectives
        2. Management of congenital disorders in a community
        3. Caring for people with congenital disorders
        4. Prevention of congenital disorders
        5. Medical genetic screening
        6. Parents’ choices with prenatal diagnosis
        7. Genetic counselling
        8. Breaking bad news
        9. Case studies
      5. 3 Chromosomal Disorders
        1. Objectives
        2. Introduction to Down syndrome
        3. The complications of Down syndrome
        4. Caring for children with Down syndrome
        5. Prevention
        6. Screening for Down syndrome
        7. Genetic counselling for Down syndrome
        8. Case studies
      6. 4 Single gene disorders
        1. Objectives
        2. Introduction to single gene disorders
        3. Waardenburg syndrome
        4. Oculocutaneous albinism
        5. Haemophilia
        6. Case studies
      7. 5 Multifactorial congenital disorders
        1. Objectives
        2. Introduction to multifactorial congenital disorders
        3. Introduction to neural tube defects
        4. Caring for infants and children with neural tube defects
        5. Genetic counselling for neural tube defects
        6. Prevention of neural tube defects
        7. Screening for neural tube defects
        8. Case studies
      8. 6 Congenital disorders caused by teratogens
        1. Objectives
        2. Importance of teratogens
        3. Introduction to fetal alcohol syndrome
        4. The cause of fetal alcohol syndrome
        5. Recognising infants with fetal alcohol syndrome
        6. Growth and development in infants with fetal alcohol syndrome
        7. Care of children with fetal alcohol syndrome and their families
        8. Case studies
      9. Addendum A: Clinical features, diagnosis, treatment, genetic counselling and prevention of common congenital disorders
      10. Addendum B: Social grants available in South Africa for people with disability
        1. Qualifying requirements for social assistance
        2. Social grants for persons with disability
      11. Addendum C: Down syndrome association contact details in South Africa
        1. Down Syndrome South Africa (National Office)
        2. Down Syndrome Association (Gauteng)
        3. Down Syndrome Association (Pretoria/Tshwane)
        4. Down Syndrome Association (Western Cape)
        5. Down Syndrome Association (Eastern Cape)
        6. Down Syndrome Support Cape
        7. Down Syndrome Association (Bloemfontein)
      12. Photographs of congenital disorders
      1. How to use our books
      2. Buy printed books
      3. About Bettercare
      4. FAQs
      5. Contact us

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