Down Syndrome Overview (cont.)

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How is Down syndrome diagnosed?

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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.

What is the treatment for Down syndrome?

Providing support and treatment for a patient with Down syndrome is meant to improve their quality of life.

Infants with Down syndrome may experience developmental delays including time to sit, crawl, walk, and talk so parents need to know fhat developmental delays are common in children with Down syndrome. Using a team approach to care, physical therapists, occupational therapists, and speech therapists may help improve language, motor, and social skills to the maximum achievable by the individual person.

Medical conditions associated with Down syndrome, including those affecting the heart or the gastrointestinal system, may require evaluation and care, sometimes requiring surgery.

As the patient ages, the care and support needed will depend upon the intellectual ability and physical function achievable by the individual.

Medically Reviewed by a Doctor on 10/31/2013

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