UNITY Screen™ NIPT for Down Syndrome (Trisomy 21)

What Is UNITY Screen™ for Down Syndrome?

There are many options for trisomy 21 testing in pregnancy, which can be overwhelming for expecting parents. UNITY Screen™ NIPT is a first-trimester screening test for Down syndrome that can determine if a baby is at high-risk for Down syndrome as early as 9 weeks into pregnancy. This test analyzes the DNA of the baby, which is found in the mother's blood during pregnancy. Trisomy 21 prenatal screening can provide accurate results and is less invasive than other prenatal screening methods.

How UNITY for Down Syndrome Works?

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What Is Down Syndrome?

Down syndrome is a genetic condition that affects a person's physical and intellectual development. It is caused by an extra copy of a specific chromosome (chromosome 21) in the person's DNA. People with Down syndrome may have some common physical characteristics, such as similar facial features, as well as varying degrees of intellectual disability.

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What Causes Down Syndrome?

Down syndrome is caused by an extra copy of chromosome 21. This extra genetic material provides extra instructions for how to grow and develop, which can lead to differences in development. Inheriting the extra chromosome is random; however, the chance of having a baby with Down syndrome increases as the mother's age increases. Many couples elect to have a Down syndrome pregnancy test performed during their pregnancy to gain a better idea of the chance for their baby to have Down syndrome.

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Signs and Symptoms of Down Syndrome

If screening test results reveal a high risk for a child with Down syndrome and diagnostic testing confirms the baby has the condition there are many physical characteristics people with Down syndrome may develop in addition to varying degrees of intellectual disability. 

Common features of those diagnosed with Down syndrome include:

• Low muscle tone
• A flatter face with eyes slanting up
• Small ears
• A wider neck
• A single crease across the palm of the hand
• A gap between the first and second toes

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Who Should Get Prenatal Screening for Down Syndrome?

The American College of Obstetricians and Gynecologists (ACOG) recommends that all pregnant people be offered screening for chromosomal abnormalities, including Down syndrome.

Discussing genetic testing for Down syndrome with your doctor is recommended for all pregnant patients, but it is especially important for patients who are older or have had a previous pregnancy affected by a chromosome condition. A Down syndrome test during pregnancy can help identify the chance of a developing baby having Down syndrome. Knowing the risk for a baby to have Down syndrome prior to birth can help expecting parents decide on diagnostic testing and/or prepare for the baby's arrival if postnatal testing is preferred.

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UNITY Screen™ Prenatal Screening for Down Syndrome Workflow

Consult
The UNITY Screen™ NIPT is ordered through your healthcare provider. You can schedule a complimentary genetic counseling session to answer any questions about the test before or after your blood is drawn.

Test: As early as week 9
Your blood sample can be collected in the doctor’s office, at a local lab, or through our mobile services. Your blood sample is shipped to our CAP/CLIA certified laboratory in northern California.

aneuploidy NIPT + fetal antigen results: As early as week 10
Within about one week from lab receipt, your doctor will receive the baby’s risk score for aneuploidies (chromosome conditions) and fetal antigens (if added). You will receive a text or email indicating your results are available on our portal, or your healthcare provider may call you with the results.

carrier status + single-gene NIPT results: As early as week 11
Within about two weeks from lab receipt, your doctor will receive the results of your maternal carrier status testing and single-gene NIPT. If you were found to be a carrier for any of the recessive conditions, single-gene NIPT is automatically run to determine your baby’s risk of being affected. You will receive a text or email indicating your results are available on our portal, or your healthcare provider may call you with the results.

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How Accurate Is NIPT for Down Syndrome?

In recent years, screening for Down syndrome by analyzing fetal DNA floating in the maternal blood has revolutionized how screening for Down syndrome is routinely performed during pregnancy. UNITY Screen™ can help you understand if your baby is at high-risk for Down syndrome as early as 9 weeks into pregnancy. UNITY Screen™, and all NIPTs, are screenings tests and not diagnostic tests.

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If you receive a high-risk result, it does not mean that the baby has Down syndrome for certain. However, it may indicate a need for further testing, such as amniocentesis or chorionic villus sampling (CVS), which can provide a diagnosis. It's important to discuss the test results with a healthcare provider to understand what they mean and decide how you would like to move forward with possible next steps.

• Before Birth
  Testing during pregnancy can be performed by obtaining a sample of placenta (chorionic villus sampling or CVS) or fluid around your baby (amniocentesis) which both contain DNA that is representative of your baby.  A CVS is ideally performed between 10 to 13 weeks pregnancy while an amniocentesis is typically performed between 15 to 24 weeks pregnancy.  Both procedures are generally safe, but have a small risk for pregnancy complications, including miscarriage.
• After Birth
  Infants with Down syndrome typically have physical features of the condition. However, if confirmatory testing during pregnancy is not done, the baby’s pediatrician should be informed of this result. The baby can have chromosome analysis performed after birth. Physical exam by a medical geneticist can also be considered.

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Resources

• National Down Syndrome Society
• Down Syndrome Pregnancy
• Global Down Syndrome Foundation
• Lettercase, Understanding Down Syndrome

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Frequently Asked Questions

Explore our additional resources and find answers to common questions.

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What medical complications might someone with Down syndrome develop?

Children with Down syndrome may have concerns with their vision, hearing, or digestion. They may also be born with a heart defect. Children with Down syndrome usually learn to walk and talk but at an older age than their siblings or peers. Almost all individuals with Down syndrome have some degree of intellectual disability. However, each child is different and not everyone with Down syndrome will experience the same symptoms.

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What is the treatment for Down syndrome?

Typically, the treatments available for Down syndrome are based on the unique needs of each person. Since each person is different, unique plans are made to best address the physical and intellectual needs of the individual.

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Can people with Down Syndrome have a high quality of life?

While people with Down syndrome face challenges and medical concerns, recent advances in healthcare, education, and awareness have improved their length and quality of life. People with Down syndrome can finish school, find jobs, form meaningful relationships, and may live independently. People with Down syndrome have a different range of abilities and medical considerations which cannot be predicted with genetic testing or before birth. However, there are many resources available for expecting parents to learn more about what to expect.