Down Syndrome - Tests

Did you have special screening tests for Down syndrome during your pregnancy?

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How is Down syndrome diagnosed?

Most often, Down syndrome is diagnosed while the fetus is still in the uterus (see tests below). Routine screening is recommended by the American College of Obstetrics and Gynecology in all pregnancies, regardless of the mother's age.

In the first and second trimesters of pregnancy, blood tests and ultrasound may be used to screen for not only Down syndrome, but also spina bifida and other genetic abnormalities. Should these screening tests show the potential for Down syndrome, specific diagnostic test may be considered. These include the following:

  • Amniocentesis: A needle is placed using ultrasound guidance into the uterus to obtain a sample of the amniotic fluid that surrounds the fetus. The fetus' chromosomes can be analyzed, looking for trisomy 21.
  • Chorionic villus sampling: Cells are taken from the placenta for fetal chromosome analysis.

There is a small risk of miscarriage with these tests. The decision as to which test might be best and when it should be done depends upon the situation and is made jointly with mother and the health care professional.

At birth, Down syndrome is usually diagnosed by the appearance of the newborn and the health care professional will likely order a chromosome analysis to confirm the diagnosis.

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