Down Syndrome is a genetic disorder caused by the presence of an extra copy of chromosome 21. It is typically characterized by certain physical features, intellectual disabilities, and developmental delays. While I am not a medical professional, I can provide you with some general information on how Down Syndrome is diagnosed.
Physical Features: Individuals with Down Syndrome often exhibit distinct physical characteristics, such as a flattened facial profile, upward slanting eyes, small ears, a protruding tongue, and a single crease across the palm of the hand. However, it is important to note that not all individuals with Down Syndrome have these features, and they can vary in severity.
Developmental Delays: Children with Down Syndrome may experience delays in reaching developmental milestones, such as sitting up, crawling, walking, and talking. These delays can be observed during routine check-ups with pediatricians or through early intervention programs.
Intellectual Disabilities: Down Syndrome is associated with varying degrees of intellectual disabilities. Individuals with Down Syndrome may have learning difficulties and cognitive impairments, but the level of intellectual disability can vary widely from person to person.
Medical Tests: A definitive diagnosis of Down Syndrome is typically made through genetic testing, such as a chromosomal analysis (karyotype) or a newer method called fluorescent in situ hybridization (FISH). These tests analyze a person's chromosomes to determine if there is an extra copy of chromosome 21.
Prenatal Screening: During pregnancy, certain prenatal screening tests can indicate an increased likelihood of Down Syndrome. These tests include non-invasive prenatal testing (NIPT), combined first-trimester screening, and second-trimester maternal serum screening. However, it is important to note that these tests are not diagnostic and can only provide a probability of having a baby with Down Syndrome.
If you suspect that you or someone you know may have Down Syndrome, it is crucial to consult with a healthcare professional for a proper diagnosis. They will be able to evaluate the individual's medical history, physical characteristics, and conduct the necessary tests to confirm or rule out Down Syndrome.