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PEDIATRIC SERVICES

Diagnosis & Treatment

Down Syndrome

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How is Down Syndrome Diagnosed?

Diagnosis

Down syndrome can be diagnosed during pregnancy or after birth through various screening and diagnostic tests. Genetic counseling is recommended for pregnant women to help determine which testing options may be best.

Screening tests in the first trimester

Screening tests can help determine signs of Down syndrome during pregnancy. Tests performed in the first trimester can include:

  • Blood tests. PAPP-A protein levels and hCG hormone levels are measured in your blood. Anything out of the normal range could signal an issue.
  • Ultrasound (Nuchal translucency test). During this imaging test, a specific area on the back of your baby’s neck is measured. If more fluid than normal is detected, this could be a sign of an abnormality.
  • Noninvasive prenatal screening (NIPS) involves analyzing fragments of the fetus’ DNA that may already be circulating in the mother’s bloodstream

Screening tests in the second trimester

Screening tests done in the second trimester may include:

  • Blood tests. A blood test measures the protein AFP, the hormone estriol, and other substances. The results, combined with the first-trimester blood tests, will provide a solid estimate of whether or not your baby has Down syndrome. NIPS can also be performed.
  • Ultrasound. An ultrasound in the second trimester can reveal any existing physical features of Down syndrome

Diagnostic tests in a pregnancy

Your doctor may recommend diagnostic tests for Down syndrome based on your screened test results or if you are at higher risk for having a baby with the condition. These tests look for the telltale sign of Down syndrome—the extra chromosome 21.

Diagnostic tests during pregnancy for Down syndrome can include:

  • Chorionic villus sampling (CVS). Cells taken from the placenta (by needle or a thin tube through the cervix) can determine the presence of an extra chromosome 21 in the baby’s DNA. A CVS is usually performed in the first trimester.
  • Amniocentesis. Fluid taken from the amniotic sac around the fetus is tested for extra chromosome 21. This test is typically done in the second trimester.

Diagnostic tests after birth

A doctor may diagnose a newborn with Down syndrome based on the baby’s physical appearance. Down syndrome can then be confirmed with a karyotype test, a blood test that reveals if there’s an extra chromosome 21.

How is Down Syndrome Treated?

Treatment

Down syndrome is a lifelong condition. Down syndrome treatments are geared toward providing children and their families with services that can elevate their quality of life. Certain therapies will support a child with Down syndrome into adulthood, and help them reach their full potential.

Down syndrome treatments and therapies can include:

FAQs

FAQs

In most cases, Down syndrome is not inherited. Translocation Down syndrome can be caused if a parent is a carrier for a chromosome rearrangement.

The average lifespan of an individual with Down syndrome is 60 years.

A person with Down syndrome has an extra chromosome 21. That means they have 47 chromosomes instead of the usual 46.

According to the CDC, around 6,000 babies a year are born with Down syndrome in the United States, or about one in every 700 people.

Down syndrome can cause a distinct facial appearance, lifelong developmental delays, and learning disabilities. It raises the risk of developing certain medical conditions, including heart or thyroid disease.

Get Care

Trust NewYork-Presbyterian for Down Syndrome Treatment

For children with Down syndrome, early intervention therapies and routine medical care can greatly improve quality of life. NewYork-Presbyterian can help address any medical complications that can accompany Down syndrome and offer pathways to a healthier, productive lifestyle.

Contact NewYork-Presbyterian to get support for your loved one living with Down syndrome.