Diagnosis

Prenatally

There are two types of tests for Down syndrome that can be performed before a baby is born: screening tests and diagnostic tests. Prenatal screens estimate the chance of the baby having Down syndrome while diagnostic tests provide a definitive diagnosis with almost 100% accuracy.
  • Prenatal Screening
    Most screening tests involve a blood test and an ultrasound. The blood tests measure quantities of various substances in the blood of the mother. Together with a woman's age, these are used to estimate her chance of having a child with Down syndrome. These blood tests are often performed in conjunction with a detailed ultrasound to check for "markers" (characteristics that some researchers feel may have a significant association with Down syndrome). Recently, researchers have developed a maternal blood test/ultrasound/age combination that can yield a much higher accuracy rate at an earlier stage in the pregnancy. Still, the screen will not definitively diagnose Down syndrome.
    Prenatal screening tests are now routinely offered to women of all ages. If the chance of having a child with Down syndrome is high from prenatal screening, doctors will often advise a mother to undergo diagnostic testing if she desires a definitive diagnosis.

  • Diagnostic Testing
    The diagnostic procedures available for prenatal diagnosis of Down syndrome are chorionic villus sampling (CVS) and amniocentesis. These procedures, which carry up to a 1% risk of causing a miscarriage are practically 100% accurate in diagnosing Down syndrome. Amniocentesis is usually performed in the second trimester after 15 weeks of gestation, and CVS in the first trimester between 9 and 11 weeks.

At Birth

Down syndrome is usually identified at birth by the presence of certain physical traits: low muscle tone, a single deep crease across the palm of the hand, a slightly flattened facial profile and an upward slant to the eyes.  Because these features may be present in babies without Down syndrome, a chromosomal analysis called a karyotype is done to confirm the diagnosis. To obtain a karyotype, doctors draw a blood sample to examine the baby's cells. They use special tools to photograph the chromosomes and then group them by size, number, and shape. By examining the karyotype, doctors can diagnose Down syndrome.  Another genetic test called FISH can apply similar principles and confirm a diagnosis in a shorter amount of time.

References

The information featured in this section is reproduced via an exclusive arrangement with National Down Syndrome Society [ONLINE] Available at http://www.ndss.org