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  2. Down Syndrome: Prenatal Risk Assessment and Diagnosis - AAFP

    www.aafp.org/pubs/afp/issues/2000/0815/p825.html

    Down syndrome (trisomy 21) is the most commonly recognized genetic cause of mental retardation. The risk of trisomy 21 is directly related to maternal age. All forms of prenatal testing for...

  3. Health Supervision for Children and Adolescents With Down ...

    publications.aap.org/pediatrics/article/149/5...

    In ∼96% of children with Down syndrome, the condition is sporadic because of nonfamilial trisomy 21, in which there are 47 chromosomes with the presence of a free extra chromosome 21.

  4. Understanding a Diagnosis of Down Syndrome | National ... - NDSS

    ndss.org/lifespan/understanding-a-diagnosis-of...

    According to the latest research, this blood test can detect up to 98.6% of fetuses with trisomy 21. The chance of having a child with Down syndrome with a “positive” result varies widely depending on maternal age and gestational age.

  5. Down syndrome - Symptoms and causes - Mayo Clinic

    www.mayoclinic.org/diseases-conditions/down...

    About 95% of the time, Down syndrome is caused by trisomy 21. This means the person has three copies of chromosome 21, instead of the usual two copies. The extra chromosome 21 is in all cells in the body.

  6. Trisomy 21 (Down Syndrome) - Children's Hospital of Philadelphia

    www.chop.edu/conditions-diseases/trisomy-21-down...

    Also known as Down syndrome, trisomy 21 is a genetic condition caused by an extra chromosome. Most babies inherit 23 chromosomes from each parent, for a total of 46 chromosomes. Babies with Down syndrome however, end up with three chromosomes at position 21, instead of the usual pair.

  7. Down syndrome - Diagnosis and treatment - Mayo Clinic

    www.mayoclinic.org/diseases-conditions/down...

    This cell-free DNA in the blood can be examined for the extra chromosome 21 material of Down syndrome. For those at risk of having an infant with Down syndrome, the test can be done starting at 10 weeks of pregnancy. If the test is positive, diagnostic testing is usually needed to confirm that the baby has Down syndrome.

  8. Down Syndrome: Symptoms & Causes - Cleveland Clinic

    my.clevelandclinic.org/health/diseases/17818

    Down syndrome is a genetic condition where a person is born with an extra copy of chromosome 21. This means that they have a total of 47 chromosomes instead of 46. This can affect how their brain and body develop. People diagnosed with Down syndrome have happy and healthy lives with supportive care.