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
Click here for a Patient Brochure
Click here for a short video explaining the test.
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
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:
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
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.
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
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.
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.
which is commonly associated with significant developmental delay
and learning disabilities, seizures and hyperactivity.
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
which is associated with intellectual disability, characteristic
facial features, seizures and delayed growth and development.
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
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
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
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.