Diagnosis of DiGeorge Syndrome
Diagnosing DiGeorge syndrome can be challenging because its symptoms vary so widely. Some children show clear signs soon after birth. Such as heart defects or immune problems, while others may present more subtle features that only become noticeable over time. In South Africa, where access to specialised care may differ by region. Early diagnosis relies on medical awareness and referral to appropriate centres.
Doctors usually begin with a physical examination and detailed family history. If a newborn shows signs like a heart murmur, low calcium levels, or unusual facial features, the healthcare team may suspect DiGeorge syndrome. In cases where infections are frequent or development seems delayed, paediatricians may also consider this diagnosis.
The most accurate way to confirm DiGeorge syndrome is through genetic testing. A specialised test called FISH (fluorescence in situ hybridisation) was once the standard, but more advanced techniques like chromosomal microarray analysis are now commonly used. These tests detect the missing segment on chromosome 22. In South Africa, genetic services are available in major cities through academic hospitals and private laboratories, but delays can occur in public healthcare settings.
If a child is diagnosed with DiGeorge syndrome, doctors will likely recommend additional tests to understand how the condition is affecting their body. These may include:
Echocardiogram to check for heart defects
Blood tests to measure calcium levels and immune function
Chest X-rays to assess the thymus gland
Hearing and vision tests
Developmental assessments to evaluate learning and behaviour
Diagnosis of DiGeorge Syndrome
Diagnosing DiGeorge syndrome in a parent can also be important, especially if they plan to have more children. A simple blood test can determine whether a parent carries the deletion. This helps families make informed decisions about future pregnancies and may explain mild symptoms in the parent that went unrecognised.
Once a diagnosis is confirmed, creating a care plan becomes the next step. Early diagnosis allows for better preparation and the involvement of specialists who can monitor and manage each aspect of the condition. Families are also offered support and counselling to help them navigate the emotional and practical challenges ahead.
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