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from SECTION 2 - MOLECULAR PATHOLOGY
Published online by Cambridge University Press: 04 June 2019
INTRODUCTION
As the burden of birth defects is high in middleincome countries like South Africa, clinicians frequently have to care for patients with such conditions. This chapter aims to provide the clinician with a clear understanding of the aims and processes of medical genetics, and how individuals with birth defects should be cared for.
When affected individuals and their families attend a genetic clinic, they usually want answers to five questions:
What is it?
What caused it?
What does it mean in terms of care?
Will it happen again?
Can it be prevented?
The care of individuals with birth defects is accomplished by providing information that answers these questions. In addition, it is necessary to provide psychosocial support while individuals and families come to terms with the information and make medical, social and reproductive decisions.
PROVIDING INFORMATION
Making a diagnosis: ‘What is it?’
Making a diagnosis in a person with a birth defect is often challenging. An exact diagnosis allows for calculating accurate recurrence risks in a family, and this should be conveyed during genetic counselling. As with any medical problem, making a diagnosis depends on taking a history, doing an examination, and performing relevant investigations. Within each activity, ‘genetically’ orientated details will apply.
History
• The family history should note particular aspects such as similarly affected individuals, individuals with different but linked signs and symptoms, possible patterns of inheritance, consanguinity, previous mis - carriages, stillbirths, and abnormal and/or intellectually impaired individuals.
• Pregnancy history should include information about age, maternal illnesses, maternal medication use in pregnancy, and pregnancy-related events that could result in birth defects such as maternal infections or teratogen exposure (for example alcohol).
• Birth history must be detailed and complete, and include birth parameters.
• Medical progress should note problems such as growth abnormalities (over growth or restricted growth), failure to thrive, seizures, cardiac or other organ dysfunction, recurrent infections and feeding difficulties. In adult-onset conditions, age of onset of symptoms is important.
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