Screen for aneuploidy using advanced, noninvasive cell-free DNA 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 non-invasive screen offers providers and their patients accurate information about the risk for these conditions during pregnancy, as early as 10 weeks’ gestation.

Proven non-invasive technology

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

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

 

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.10

 

Comparison of cfDNA test failure rates

 

Test failures should be treated as “high-risk” results10

Literature shows that as many as 1 in 4 cell-free DNA test failures are
pregnancies affected with a chromosome aneuploidy.6,8

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.”

ACOG/SMFM Committee Opinion Number 640. Cell-free DNA Screening for Fetal Aneuploidy. Sept 2015.10

 

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

 

Easy to administer

  • Safe, non-invasive test—just one tube of maternal blood needed
  • Clear and simple result reports
  • Proactive notification of any positive result
  • Complimentary access to Progenity’s board-certified genetic counselors

 

The Innatal Prenatal Screen is a prenatal screening test. Clinical correlation with ultrasound findings and other screening tests is indicated. If definitive diagnosis is desired, chorionic villus sampling or amniocentesis is necessary.

References

1. Data on file. Progenity, Inc.
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. AJOG 2015, 212(6):711-716
6. 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.
7. 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.
8. 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
9. Dar et al. Clinical experience and follow-up with large scale single-nucleotide polymorphism-based noninvasive prenatal aneuploidy testing. Am J Obstet Gynecol. 2014 Nov;211(5):527.e1-527.e17. doi: 10.1016/j.ajog.2014.08.006
10. Cell-free DNA screening for fetal aneuploidy. Committee Opinion No. 640. American College of Obstetricians and Gynecologists and Society for Maternal-Fetal Medicine. Obstet Gynecol 2015;126:e31-7. doi: 10.1097/AOG.0000000000001051

 

Innatal™ is a trademark of Progenity, Inc.