Innatal® Prenatal Screen

Innatal<sup>®</sup> Prenatal Screen

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

Before hello, it helps to know.

Noninvasive prenatal screening allows
you to test for diseases that could impact
your baby's health.

Knowledge helps you prepare.

Prepare with specialty care, disease information, resources, and support.

Getting tested is simple and safe.

Testing is performed on a small sample of blood and is safe for you and baby.

Learn about your baby’s health with noninvasive prenatal testing.

As an expectant parent, you may want to learn everything you can about your baby’s health. The Innatal® Prenatal Screen checks for diseases, such as Down syndrome, that could affect your baby’s health. This is a noninvasive test that requires one blood draw, so it's safe for mom and baby.

 

Learn more about prenatal screening.

If you know, you can make a plan.

Knowing about the health of your baby can help you prepare with:

  • Clear answers – become more certain about your baby's health.

  • Specialty care – consider special prenatal and neonatal options.

  • Disease information – connect with advocacy groups to learn about the disease.

  • Resources and support – gather social and family support and plan for practical needs, like finances and specialized childcare.

How are these genetic diseases passed down?

What does the test look for?

The Innatal Prenatal Screen searches for certain chromosomal diseases that cause serious health problems. These diseases happen when a baby is born with extra or missing chromosomes.

  • Trisomy 21 (Down syndrome) – children with trisomy 21 have distinct facial features, below average intelligence, difficulty achieving life skills, and a higher risk for certain health problems.

  • Trisomy 13 and trisomy 18 – children with these diseases have severe, life-threatening health problems. Miscarriage of a pregnancy is common. Babies who survive birth often do not live past the first few weeks of life.

  • Sex chromosome disorders – children with extra or missing sex chromosomes (X and Y) can have certain health and reproductive problems, and may have some problems with learning.


* No test is perfect. False positives and false negative results are rare (<1%). Prenatal screening tests can't check for everything that could impact the health of your baby. Other diseases, birth defects, or health conditions may be present, even if results are normal.

Prenatal screening helps you prepare for life.

While most babies are born healthy, some are born with a chromosomal disorder. Knowing about the health of your baby during pregnancy allows you time to prepare—physically, financially, and emotionally to care for a child with extra needs.

Getting tested is simple and safe.

Visit your healthcare provider

Ask your doctor if this test is right for you.

Collect your sample

Your healthcare provider will take a blood sample from your arm and send it to the Progenity laboratory.

Receive your results

Results are ready in about one week. Positive results mean a closer look is needed at your baby’s DNA. Negative results mean that your baby is very low risk.

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 one week from the date your blood sample is drawn.

Some of the diseases tested are linked to sex chromosomes, so the Innatal Prenatal Screen can also tell you whether you are having a boy or a girl. If you don’t want to know the sex of your baby until after delivery, you can tell your healthcare provider not to disclose that information to you, or you can opt out of testing for diseases linked to sex chromosomes.

The Innatal Prenatal Screen will accurately predict the sex of the baby 99% of the time with a simple blood draw. This means that results will be correct for 99 out of 100 women. Because no test is perfect, the test will be incorrect for about 1 out of every 100 women. This is at least as accurate as using an ultrasound to determine the sex of the baby.

No more knowing less.

As a healthcare provider, you know the best decisions are informed decisions. That’s why you use a variety of tools to monitor patients throughout their pregnancies. Genetic testing is another useful tool in the toolkit, where results can reassure them about what’s typical, and guide you when risks arise.

Knowing more can help everyone prepare for life.

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 utilizes massively parallel sequencing (MPS) across the whole genome. This method sequences short fragments of DNA, creating millions of reads that are then mapped to the reference genome. The reads are counted to determine whether the sample has extra or missing reads from a particular chromosome. Abnormal dosage indicating aneuploidy is presumed to be fetal in origin. In rare circumstances, there is an alternative explanation.

Progenity has upgraded the Innatal Prenatal screen with the latest sequencing technology and improved chemistry, demonstrating higher sensitivities than previous versions of the test. Fetal fraction is determined for each sample using a proprietary algorithm. Previous performance strengths have been maintained, including low failure rates and quick results.

In-depth verification and validation testing of the Innatal Prenatal Screen assay, using >1000 samples, was conducted as prescribed by multiple peer-reviewed guidelines.1,2,3

PERFORMANCE DATA4

Disorder
Sensitivity
Specificity
Accuracy
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%
99.4%
XY
99.9%
99.0%
99.4%
XXX, XXY, XYY
N/A*
N/A*
N/A*

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

Not all tests are created equal.

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.

“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

COMPARISON OF CFDNA TEST FAILURE RATES

Deliveries/year
Natera Panorama® 5% failure rate6,7
Natera Panorama® 10% failure rate6
Innatal® Prenatal Screen ~1% failure rate8
100
5
10
~1
300
15
30
~3
500
25
50
~5

Sensitivity that matters.

Better detection. Fewer surprises. The Innatal Prenatal Screen has the highest published sensitivity across all tested disorders. Better test performance of >99% sensitivity means fewer false negative results for you and your patients.

CLINICAL SENSITIVITY OF CELL-FREE DNA SCREENS

Disorder
Natera7,9-11 Panorama
Myriad3,12 Prequel Prenatal Screen
LabCorp13-15 MaterniT 21 Plus
Invitae16 Noninvasive Prenatal Screening
Progenity4 Innatal Prenatal Screen
Trisomy 21
>99%
>99%
>99%
>99%
>99%
Trisomy 18
>98%
>97%
>99%
>97%
>99%
Trisomy 13
>99%
>99%
>91%
>87%
>99%
Monosomy X
>94%
>95%
>94%
>95%
>99%

One test for all 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)

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.5,17 PPV describes the statistical chance for a patient with a positive result to have an affected pregnancy.

Some laboratories publish a static PPV, but the truth is that PPV varies significantly. It depends on the prevalence of the condition in the population being measured, so it’s a relative measurement instead of an absolute. The Innatal test provides a PPV customized to maternal age and gestational age. This helps you to provide a clearer picture to the patient about her individual risk and to guide the conversation about next steps.

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

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.

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 about a week

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.

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. Palomaki et al. The clinical utility of DNA-based screening for fetal aneuploidy by primary obstetrical care providers in the general pregnancy population. Genet Med. 2017 Jan 12. doi: 10.1038/gim.2016.194.
  7. Ryan et al. Validation of an enhanced version of a single-nucleotide polymorphism-based noninvasive prenatal test for detection of fetal aneuploidies. Fetal Diagn Ther. 2016;40(3):219 – 23.
  8. Porreco RP, et al. Evaluation of a novel screening method for fetal aneuploidy using cell-free DNA in maternal plasma. J Med Screen. 2019 Sep 11. [Epub ahead of print]
  9. Pergament et al. Single-nucleotide polymorphism-based noninvasive prenatal screening in a high-risk and low-risk cohort. Obstet Gynecol. 2014 Aug;124(2 Pt 1):210 – 18.
  10. Nicolaides KH et al. Prenat Diagn. 2013 June;33(6):575-9
  11. Dar P et al. Am J Obstet Gynecol. 2014 Nov;211(5):527.e1-527.e17
  12. Illumina, Inc. Analytical Validation of the verifi® prenatal test. 2012.
  13. Palomaki GE et al. Genet Med. 2011;13(11):913-920.
  14. Palomaki GE et al. Genet Med. 2012;14(3):296-305.
  15. Mazloom AR et al. Prenat Diagn. 2013 Jun;33(6):591.
  16. Data on file at Illumina, Inc.
  17. 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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