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Edward Syndrome (Trisomy 18) - Quick Bites

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Edward Syndrome (Trisomy 18) -
Edward Syndrome, or Trisomy 18, is a genetic disorder caused by an extra chromosome 18, leading to severe developmental and physical abnormalities. It commonly presents with low birth weight, growth retardation, distinctive facial features (such as micrognathia and low-set ears), congenital heart defects, clenched hands, rocker-bottom feet, and significant neurological impairments. Diagnosis is often made prenatally through abnormal screening results and confirmed via karyotyping or noninvasive prenatal testing. The management of Trisomy 18 is primarily supportive and involves a multidisciplinary team to address the complex needs of the child. Prognosis is poor, with most affected infants not surviving past their first year due to extensive organ anomalies. Genetic counseling is crucial for families to understand the disorder and its recurrence risks. Edward Syndrome presents profound medical and ethical challenges, emphasizing the importance of a compassionate, informed approach in care and family support.
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