What tests are done to diagnose Down syndrome

Patient's question:

A child has been diagnosed with Down syndrome. Further detailed examination, what is trustworthy to do, what tests are needed for a confirmed diagnosis of Down syndrome

Doctor's answer:

Down syndrome screening involves testing a pregnant woman's blood to screen for fetal trisomy 21. The screening results can help predict the likelihood of the fetus having congenital intellectual disabilities and the risk level of developing Down syndrome. If the screening results indicate a high risk, further diagnostic tests such as amniocentesis may be required. Amniocentesis involves extracting amniotic fluid from the uterus to examine it, which can reveal any chromosomal abnormalities in the fetus and determine the possibility of Down syndrome, with an accuracy rate of over 99%. Down syndrome can cause significant harm to children, and if a mother notices symptoms in her child, she should immediately take them to a regular hospital for diagnosis.

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