Diagnosis of Down’s Syndrome
The diagnosis of Down’s syndrome can take place either before birth (prenatally) or shortly after delivery. In many cases, the condition is suspected at birth due to physical features, but confirmation requires a genetic test. This test, known as a karyotype, identifies the presence of an extra copy of chromosome 21. A confirmed diagnosis of Down’s syndrome provides essential information for planning medical care and developmental support.
Prenatal screening is available in many countries, including South Africa. Screening tests such as ultrasound and maternal blood tests can estimate the likelihood of the baby having Down’s syndrome, though they do not confirm it. Ultrasound markers may include increased nuchal translucency (fluid at the back of the neck), heart defects, or certain facial features. If the results indicate higher risk, diagnostic tests like chorionic villus sampling (CVS) or amniocentesis may be offered. These tests are invasive but provide definitive results.
After birth, paediatricians may suspect Down’s syndrome based on physical traits such as low muscle tone, upward-slanting eyes, a flat nasal bridge, and a single crease across the palm. However, because these signs can vary and may appear in other conditions, genetic testing is necessary to confirm the diagnosis. This is typically done with a blood sample, and results are usually available within a few days.
Parental & Newborn Testing in SA
In South Africa, prenatal and newborn testing services are more accessible in private healthcare settings. In the public sector, screening is limited by resource constraints, especially in rural and underfunded facilities. As a result, some children may go undiagnosed until developmental delays become more noticeable in infancy or early childhood.
An early diagnosis of Down’s syndrome allows parents and healthcare providers to monitor for common health issues associated with the condition, such as heart defects, thyroid dysfunction, or hearing loss. Early referral to developmental support services can improve long-term outcomes and reduce the impact of cognitive and physical delays.
Diagnosis of Down’s Syndrome
Genetic counselling is also an important part of the diagnostic process. Counsellors provide families with information about the condition, inheritance patterns, recurrence risk in future pregnancies, and emotional support. In cases of translocation Down’s syndrome, parents may be tested to see if they carry a balanced translocation.
Emotional reactions to a diagnosis of Down’s syndrome vary. Parents may experience shock, grief, or uncertainty. Access to clear information and supportive healthcare professionals can ease this process and help families begin their journey with confidence and hope.
Timely and accurate diagnosis is essential not only for medical management but also for connecting families with the support networks, resources, and education services that improve quality of life for children with Down’s syndrome and their families.
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