Question
When I had my child, I didn’t undergo a Down syndrome screening, but later in life, I discovered facial abnormalities in my child, and the diagnosis was a Down syndrome baby. What happened?
Answer
Down syndrome is a common chromosomal abnormality, also known as trisomy 21 or Down syndrome. It is one of the most common severe congenital defects, often observable at birth with distinct facial features, showing signs of fatigue and difficulty in feeding. As the individual grows older, there is intellectual disability, delayed motor development, and sexual development. Most patients also have multiple organ abnormalities, such as heart disease, leukemia, and gastrointestinal malformations, accompanied by severe intellectual disabilities.