verifi® by Progenity is a non-invasive prenatal test that can determine with a high degree of accuracy whether your baby may have certain genetic disorders, such as Down syndrome. The test requires only a blood draw, and is safe for mother and baby. It’s a simple test that can help you plan with confidence.

How does the test work?

During pregnancy, some of the baby’s DNA crosses the placenta into the mother’s bloodstream. DNA is the blueprint of life—it holds all of the genetic information needed for our bodies to function. DNA carries this genetic information on chromosomes. Healthy humans have 23 pairs of chromosomes. Any more or less can lead to problems.

For this test, a sample of your blood is drawn and the DNA from you and your baby is analyzed. The test checks for chromosomal abnormalities that could affect the baby’s health.

Learn more about what to expect from non-invasive prenatal testing.

What conditions can this test detect?

The test screens for the most common chromosomal abnormalities, which can cause serious birth defects, intellectual disability, or other problems in the baby. These disorders are not typically inherited. Instead, they are usually caused by a random error during formation of the egg or sperm, or during the earliest stages of the baby’s development. This test will also tell you the sex of your baby, if you want to know.

The verifi® test by Progenity screens for:

  • Down syndrome (Trisomy 21), which is caused by an extra copy of chromosome 21. The disorder is the most common genetic cause of intellectual disability, and it may also cause heart defects, other organ defects, and hearing or vision problems.
  • Edwards syndrome (Trisomy 18), which is caused by an extra copy of chromosome 18. The disorder causes severe intellectual disability along with serious defects of the heart, brain and other organs. Babies with Edwards syndrome usually survive less than one year.
  • Patau syndrome (Trisomy 13), which is caused by an extra copy of chromosome 13. The disorder causes severe intellectual disability and many serious birth defects. Babies with Patau syndrome usually survive less than one year.

The test can also detect abnormalities of the sex chromosomes:1

  • Turner syndrome (Monosomy X), which is caused by a missing X chromosome in females. The disorder may cause heart defects, hearing problems, stunted growth, infertility and minor learning disabilities. Many pregnancies with Turner syndrome miscarry before delivery.
  • Klinefelter syndrome (XXY), which is caused by an extra X chromosome in males. The disorder may cause delayed or absent puberty, learning difficulties and tall stature. Most males with Klinefelter syndrome are infertile.
  • XYY or XXX syndrome, which is caused by an extra Y chromosome in males or an extra X chromosome in females. Individuals with this disorder may have tall stature and an increased risk for learning difficulties or delayed motor skills. Fertility is not usually affected and some individuals have no symptoms at all.

This test can also detect common microdeletions which are caused by the loss of a small piece of a chromosome, such as:2

  • DiGeorge syndrome or 22q11.2 deletion syndrome, which is commonly associated with heart defects, cleft palate, immune system disorders and intellectual disabilities.
  • Angelman syndrome, which is commonly associated with significant developmental delay and learning disabilities, seizures and hyperactivity.
  • Prader-Willi syndrome, which is commonly associated with mild to moderate intellectual disabilities, poor muscle tone and feeding difficulties in infancy that progresses to behavior issues and compulsive over-eating in childhood.
  • 1p36 deletion syndrome, which is is associated with severe intellectual disability, brain abnormalities, seizures, poor muscle tone, and characteristic facial features.
  • Wolf-Hirschhorn syndrome, which is associated with intellectual disability, characteristic facial features, seizures and delayed growth and development.
  • Cri-du-chat syndrome, which is characterized by intellectual disability, developmental delays, characteristic facial features and a high-pitched, cat-like cry in newborns. Some children with Cri-du-chat syndrome have heart defects.

If your healthcare provider recommends it, the verifi® Prenatal test by Progenity can also screen for the following conditions:2

  • Trisomy 9, which is caused by an extra copy of chromosome 9. Almost all pregnancies with trisomy 9 end in first trimester miscarriage. Pregnancies with partial trisomy 9 may survive until term, but typically have significant birth defects and intellectual disabilities.
  • Trisomy 16, which is caused by an extra copy of chromosome 16. Trisomy 16 is one of the most common causes of miscarriage. Pregnancies with partial trisomy 16 may survive until term, but are at increased risk for pregnancy complications and often have significant birth defects and intellectual disabilities.

What will the results tell me?

Your results will tell you and your healthcare provider whether the genetic disorders being tested were detected in your pregnancy. If your results are normal, this means that the disorders were not detected, which can provide significant reassurance.

In the case of an abnormal result, your healthcare provider will discuss what that means for your pregnancy and will offer a diagnostic procedure to confirm the result. Knowledge of a positive result can help you and your medical team plan for appropriate treatment at birth or before. It can also help you gather the appropriate medical, financial and emotional resources.

Like all tests, this test has limitations. It can only detect the specific chromosomal abnormalities tested. It doesn’t eliminate the possibility of all other genetic disorders, birth defects, or health conditions. Although this test is highly accurate, false negative and false positive results are possible in rare cases.

When can I be tested?

You can have the test at 10 weeks of pregnancy, or any time after that.

Talk to your healthcare provider to find out if this test is right for you.

1. Abnormalities of the sex chromosomes cannot be evaluated in twin pregnancies. For twins, only testing for the presence of the Y chromosome will be offered.
2. Cannot be evaluated in twin pregnancies.
verifi® is a trademark of Illumina, Inc. and/or its affiliate(s) in the U.S. and other countries.