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.

 

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.

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. Test performance has been demonstrated to be equivalent to that of a commercially available test.1 This test methodology has been demonstrated in numerous publications including clinical experience on more than 34,000 patients.2

CLINICAL TEST PERFORMANCE

Disorder
Observed Sensitivity
Observed Specificity
Trisomy 212
99.1%
99.9%
Trisomy 182
98.3%
99.9%
Trisomy 132
98.2%
99.9%
Monosomy X3
96.6%
99.8%
XX3
99.3%
99.8%
XY3
99.8%
99.8%
XXX, XXY, XYY
N/A*
N/A*

*Limited data for these less common aneuploidies preclude performance calculations.

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.4,5 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.

PPV OF TRISOMY 21 POSITIVE RESULT AT 12 WEEKS’ GESTATION
PPV
32%
35%
44%
67%
88%
maternal age
20
25
30
35
40

Accurate results, the first time

The Innatal™ Prenatal Screen provides the lowest failure rate of any cell-free DNA screening test, from a single tube of blood. When a cfDNA test fails to return a result, patients and healthcare providers are impacted by extra office visits and the increased anxiety of a delayed result. Management decisions are pushed later into the pregnancy while waiting for results that may never arrive. Redraws aren’t the answer—studies have demonstrated that up to 50% of redraws will fail a second time.4

COMPARISON OF cfDNA TEST FAILURE RATES

Innatal™
MaterniT21®
Harmony™
Panorama™
Lab failure rate
0.5%1
1 – 2%6
1 – 3%5,7
3 – 5%8,9
Patients impacted
<1 in 200
1 in 50 – 100
1 in 33 – 100
1 in 20 – 33

Test failures should be treated as high-risk results

  • Literature shows that as many as 1 in 4 cell-free DNA test failures are pregnancies affected with a chromosome aneuploidy.7,10
  • Each test failure requires a conversation with the patient to revisit the option for invasive diagnostic testing.
  • Missed or delayed diagnosis due to lack of diagnostic testing may lead to negative patient outcomes.

“Women whose results are not reported, indeterminate, or uninterpretable (a ‘no call’ result) from cell-free DNA screening should receive further genetic counseling and be offered comprehensive ultrasound evaluation and diagnostic testing because of an increased risk of aneuploidy.”4

One test for all of your patients

Streamline your practice workflow with the Innatal™ Prenatal Screen, which is available for more patients:

  • Singleton pregnancies
  • Twin pregnancies
  • Egg donor pregnancies
  • Surrogate pregnancies

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. Stoerker et al. On the importance of clinical follow-up in the establishment of non-invasive prenatal testing (NIPT) for laboratory developed tests. MOJ Proteomics Bioinform. 2017;5(1):00147. doi: 10.15406/mojpb.2017.05.00147
  2. Bhatt et al. Clinical laboratory experience with noninvasive prenatal testing: Update on clinically relevant metrics. Poster presented at the 18th International Conference on Prenatal Diagnosis and Therapy; 2014 Jul 20 – 23; Brisbane. False negatives and false positives calculated for chromosomes 21, 18, and 13 only.
  3. Bianchi et al. NIPT for sex chromosome aneuploidy: Initial clinical laboratory experience and biologic reasons for discordant results. Poster presented at the National Society of Genetic Counselors 32nd Annual Education Conference; 2013 Oct 9 – 12; Anaheim.
  4. Cell-free DNA screening for fetal aneuploidy. Committee Opinion No. 640. American College of Obstetricians and Gynecologists. Obstet Gynecol. 2015;126:e31 – 7
  5. 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.
  6. McCullough et al. High volume clinical laboratory noninvasive prenatal testing: A synopsis (or summary) of results from >375,000 patients. Poster presented at the 19th International Conference on Prenatal Diagnosis and Therapy; 2015 Jul 12-15; Washington, D.C.
  7. Stokowski et al. Clinical performance of non-invasive prenatal testing (NIPT) using targeted cell-free DNA analysis in maternal plasma with microarrays or next generation sequencing (NGS) is consistent across multiple controlled clinical studies. Prenat Diagn. 2015 Sep 1. doi: 10.1002/pd.4686
  8. 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.
  9. 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.
  10. 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.

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