Innatal Prenatal Screen

Innatal Prenatal Screen

Screen for chromosomal disorders using noninvasive cell-free DNA technology.

Why noninvasive prenatal testing?

As an expectant parent, you may want to learn everything you can about the health of your baby. The Innatal® Prenatal Screen checks for the most common chromosomal disorders, such as Down syndrome, that could affect your baby’s health. This noninvasive prenatal test requires only a blood draw, so it’s safe for both mom and baby.

This test looks at DNA from the pregnancy that crosses into the mother’s blood to screen for chromosomal disorders that can cause serious birth defects, intellectual disability, or other health problems. Any baby can be born with a chromosome disorder, which is usually caused by a random error of cell division very early in pregnancy. As women get older, the chance of having a baby with a chromosome disorder goes up. However, young women can have babies with these conditions.

Learn more about prenatal screening

How does noninvasive prenatal testing work?

What conditions can this test detect?

  • Down syndrome (trisomy 21) is caused by an extra copy of chromosome 21. It affects about 1 in 700 newborns,and is the most common genetic cause of mild to moderate intellectual disability. Children with trisomy 21 commonly have typical facial features, and a higher risk for certain health problems, including heart defects, other birth defects, and hearing and vision problems.

  • Edwards syndrome (trisomy 18) is caused by an extra copy of chromosome 18. It affects about 1 in 5,000 newborns. Children with trisomy 18 may have severe intellectual disability along with serious defects of the heart, brain, and other organs and usually survive less than one year. It is common for pregnancies with trisomy 18 to end in miscarriage or stillbirth.

  • Patau syndrome (trisomy 13) is caused by an extra copy of chromosome 13. It affects about 1 in 16,000 newborns. Children with trisomy 13 may have severe intellectual disability and many serious birth defects (heart defects, extra fingers, cleft lip and palate, brain and abdominal wall defects) and usually survive less than one year. It is common for pregnancies with trisomy 13 to end in miscarriage or stillbirth.

  • Turner syndrome (monosomy X)* is caused by a missing X chromosome in females. It affects about 1 in 2,000 female newborns. Girls with monosomy X commonly have heart defects, growth delays, infertility and may have minor learning difficulties. It is common for pregnancies with monosomy X to end in miscarriage or stillbirth.

  • Klinefelter syndrome (XXY)* is caused by an extra X chromosome in males. It affects between 1 in 500 and 1 in 1,000 newborn males. Children with Klinefelter syndrome commonly have delayed or absent puberty, learning difficulties, and tall stature. Most males with Klinefelter syndrome are infertile.

  • XYY syndrome or XXX syndrome* are caused by an extra Y chromosome in males (XYY) or an extra X chromosome in females (XXX). It affects about 1 in 1,000 newborns. Children with XYY syndrome can 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.


* May be included in the test. Cannot be evaluated in twin pregnancies.

Prenatal screening helps you prepare for life

While most babies are born healthy, some will be born with a chromosomal disorder. Knowing about the health of the baby during pregnancy allows you to make the most informed choices for your family.

This information can help guide the management of the pregnancy, and could also give you critical time to prepare—physically, financially, and emotionally—for the birth of a child with extra needs.

Getting tested is simple

Visit your healthcare provider

Talk to your healthcare provider about whether this test is right for you.

Collect your sample

Your healthcare provider will coordinate drawing your blood sample and will send it to the Progenity laboratory.

Receive your results

Your test results will be completed in about 2 weeks; you’ll be notified when they are ready.

Review your next steps

Get complimentary access to Progenity Genetic Counselors to help you and your healthcare provider plan your next steps.

Frequently asked questions

No test is perfect. Even if your result is negative, there is always a small chance that your pregnancy could be affected by one of the disorders the test screens for. As with all screening tests, false positives can occur. This test can only detect the specific chromosomal disorders tested. It doesn’t screen for all other disorders, birth defects, or health conditions that could be present in a pregnancy.

All testing is optional. The decision to accept or decline screening is a personal choice, and should be one you discuss with your healthcare provider.

Testing is performed on a small blood sample, and it is safe for both mom and baby. Your healthcare provider will make the necessary arrangements to collect your sample for testing.

You can have the test at 10 weeks’ gestation, or any time after that.

Results take about two weeks from the date your blood sample is drawn.

One test to meet your needs

  • <1% failure rate
  • ~1 week turnaround
  • 1 page report
  • 1 tube of blood
  • 1 test for all patients (singleton, twin, surrogate, & egg donor pregnancies)

Proven noninvasive technology

Cell-free DNA (cfDNA) is analyzed from a maternal blood sample to assess the pregnancy for common chromosome aneuploidies, including trisomy 21 (Down syndrome), trisomy 18, trisomy 13, and sex chromosome abnormalities. This noninvasive screen offers providers and their patients accurate information about the risk for these conditions during pregnancy, as early as 10 weeks’ gestation.

The Innatal® Prenatal Screen uses proven massively parallel sequencing technology to produce highly accurate prenatal screening results. In-depth verification and validation testing of the Innatal assay, using >1000 samples, was conducted as prescribed by multiple peer-reviewed guidelines.1,2,3

CLINICAL PERFORMANCE4

Disorder
Sensitivity
Specificity
Trisomy 21
99.2%
>99.9%
Trisomy 18
>99.9%
99.7%
Trisomy 13
>99.9%
>99.9%
Monosomy X
>99.9%
99.8%
XX
99.0%
99.9%
XY
99.9%
99.0%
XXX, XXY, XYY
N/A*
N/A*

Testing differs in New York due to specific laboratory licensing requirements. View NY Innatal prenatal screen performance table.

*Aneuploidies will be reported if detected. Limited data on these less common aneuploidies preclude performance calculations.

Complex testing, clear results

Straightforward answers about complex testing are our business. The Innatal Prenatal Screen results are summarized on a single-page report to simplify your patient conversations and your clinical documentation.

Reports include:

  • Fetal fraction - an ACMG-recommended test quality metric, reported on every test
  • Clear result banner - easily triage patients who need additional follow-up
  • Easy-to-find fetal sex - clear answers called out in the result table

For patients with positive results, extra care is given to provide risk assessment and next steps:

  • Individualized PPV - combining test performance with maternal and gestational age
  • Result navigators - patient-focused discussion guides address what results mean and what happens next

Individualized risk assessment with PPV

According to the American College of Obstetricians and Gynecologists and the Society for Maternal Fetal Medicine, the best way to communicate the meaning of a positive result to patients is by using positive predictive value, or PPV.5,6

Innatal includes PPVs that are personalized to the patient, based on her results, her age, and the gestational age of the pregnancy. Patient-specific PPVs let you confidently communicate the chance that a positive result indicates an affected pregnancy.

Clear answers, the first time

Innatal’s <1% failure rate is one of the lowest on the market. Failure rates are an important and often overlooked performance metric, as the impact of test failures on both providers and patients is significant. Test failures are treated as high-risk results, and thus invasive diagnostic testing is recommended for patients.5

“Women whose results are not reported, indeterminate, or uninterpretable (a ‘no call’ result) should be offered comprehensive ultrasound evaluation and diagnostic testing because of an increased risk of aneuploidy.”5

Fast facts: Innatal Prenatal Screen

Test Includes
Gestational Age
Specimen Type
Turnaround Time
Aneuploidy screening
for chromosomes
13, 18, 21, X, and Y
10+ weeks or later
Whole blood specimens
accepted; one 10 mL
Streck tube
Results in
7 – 10 days

As with all prenatal screening tests, clinical correlation with ultrasound findings and other screening tests is indicated. If definitive diagnosis is desired, chorionic villus sampling or amniocentesis is necessary.

Why Progenity? We make it easy.

From start to finish, our team is committed to making your life easier. We’ll work with you to institute a practical program of prenatal screening, tailored to the needs of your practice and your patients. Whether you need brochures or an in-depth review of a case, you’ll get the service and support you need.

Expert clinical support for providers & patients

Our team is here for you. A world-class team of genetic counselors and experienced laboratory directors is on call to support clinicians and discuss results with patients.

Proactive notification of positive results

Never miss a positive result. Our staff reviews each positive result and personally contacts your office. Our team of genetic counselors is always available to answer any questions.

Personalized client service at every step

Where you’re a name, not a number. Your responsive Progenity account manager is available locally, and the Progenity Client Services team is just a phone call away.

REFERENCES

  1. Jennings et al. Recommended principles and practices for validating clinical molecular pathology tests. Arch Pathol Lab Med. 2009;133(5):743-55.
  2. Lacbawan et al. Verification of performance specifications of a molecular test: cystic fibrosis carrier testing using the Luminex liquid bead array. Arch Pathol Lab Med. 2012;136(1):14-9.
  3. Rehm et al. ACMG clinical laboratory standards for next-generation sequencing. Genet Med. 2013;15(9):733-47.
  4. Progenity, Inc. Validation data on file, September 2018.
  5. Cell-free DNA screening for fetal aneuploidy. Committee Opinion No. 640. American College of Obstetricians and Gynecologists. Obstet Gynecol. 2015;126:e31 – 7
  6. Society for Maternal-Fetal Medicine (SMFM) Publications Committee. #36 Prenatal aneuploidy screening using cell-free DNA. Am J Obstet Gynecol. 2015;212(6):711 – 6.

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