Genetic birth defects; mental retardation, health problems, characteristic physical features.
Genetic birth defects; mental retardation, health problems, characteristic physical features.
Trisomy 21
Most common type of Down syndrome. Extra chormosome is present in all cells. Risk factors include:
Mosaicism
Some cells have extra chromosome.
Translocation
The only type of Down syndrome that can be inherited. Risk factors:
Body shape and size
Face shape and features
Health problems
DIAGNOSIS
Screening tests include:
Cell-free DNA (cfDNA) finds small fragments of fetal DNA floating in the mother’s blood and tests them. It can be done after 10 weeks of pregnancy.
Diagnostic Tests
The different diagnostic tests during pregnancy are:
RECOMMENDED MEDICATIONS
Although there’s no cure for Down Syndrome, children and adults with this condition may still have productive and content lives. Basic skills may be taught and learned.
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