Empowering informed choices

“NIPT is incredible. It offers you so much information with such little risk. To have that peace of mind really made a difference for us.”
– Talia and Dan

Noninvasive Prenatal Testing (NIPT)

Advancing Breakthroughs with Genomic Solutions in NIPT

Evolving noninvasive screening options, such as noninvasive prenatal tests (NIPT), offer early genetic screening for chromosomal conditions using just one tube of blood—as early as 10 weeks into a patient’s pregnancy.

Other types of prenatal screening and diagnostic tests may require more than one office visit, multiple blood draws, or carry a higher risk of false positive results. Diagnostic tests, such as chorionic villus sampling (CVS) or amniocentesis, provide definite results for most chromosome conditions but have an associated risk of miscarriage.

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Screening for common chromosome conditions

Martin Chavez, MD., a maternal-fetal medicine specialist, discusses noninvasive prenatal testing

NIPT Is Noninvasive to the Mother and Baby

NIPT analyzes cell free DNA from a maternal blood sample (mixture of fetal and maternal DNA) to screen for common chromosomal conditions including trisomy 21 (Down syndrome), trisomy 18 (Edwards syndrome), and trisomy 13 (Patau syndrome).

NIPT is noninvasive to the mother or baby with high detection rates and low false positives. The American Congress of Obstetricians and Gynecologists (ACOG) and International Society of Prenatal Diagnosis (ISPD), along with other professional societies, have stated that NIPT is an available screening option for all pregnant women.1,2

The Verifi Prenatal Test is one such noninvasive test that screens for aneuploidy of chromosomes 21, 18, and 13. Additional screening is available for sex chromosome aneuploidies and select microdeletions in singleton pregnancies. In twin pregnancies, screening for aneuploidy in chromosomes 21, 18, and 13 and the option to screen for the absence of the Y chromosome is available. The results are reported in approximately 3–5 days after the sample is received. Depending on demand, the time to report may vary.

Publication: 85,000 NIPT Cases

Noninvasive prenatal testing in the general obstetric population: Clinical performance and counseling considerations in over 85,000 cases.
Download the Paper

Test Performance Metrics for Verifi*

Test performance metric comparison for Verifi.

*The improved Verifi prenatal test has performance metrics that are equivalent to those as the original Verifi prenatal test.

Click on the below to view the sensitivity and specificity data table.

Sensitivity and specificity for AD samples compared with published validation metrics
CLIA Laboratory Validation Study*
Condition Observed Sensitivity** (Range)*** Observed Specificity** (Range)*** Sensitivity Specificity
Trisomy 21 99.49% (98.66–99.53%) 99.77% (98.92–99.91%) 100% 99.76%
Trisomy 18 97.23% (94.20–98.15%) 99.69% (99.51–99.85%) 97.37% 99.57%
Trisomy 13 97.98% (95.56–98.87%) 99.84% (99.77-99.93%) 87.50% 100%

* Illumina. Analytical Validation of the verifi prenatal test: Enhanced Test Performance for Detecting Trisomies 21, 18, and 13 and the Option for Classification of Sex Chromosome Status. Illumina White Paper. 2012

** Observed sensitivity and specificities were calculated using available outcome data with the cohort size adjusted for the proportion of positive cases with confirmed outcomes.

*** The low end of the range was based on the assumption that all unreported outcomes are discordant, and high end of the range was based on the assumption that all unreported outcomes are concordant

Evaluating Test Performance Metrics for General NIPT

Test performance metrics are essential both before and after patients undergo prenatal aneuploidy screening.
A test’s sensitivity and specificity can help you to:

Decide which prenatal screening option(s) to offer your patients

Determine which laboratory to use

Counsel patients about benefits and limitations of the aneuploidy screening options (detection rates and false positive rates)

Click on the below to view the sensitivity and specificity data table.

Performance Values Are Averaged Across Multiple NIPT Assays
Condition Sensitivity 95% CI Specificity 95% CI
Trisomy 21 99.2% 98.5-99.6% 99.91% 99.86–99.95%
Trisomy 18 96.3% 94.3–97.9% 99.87% 99.80–99.93%
Trisomy 13 91.0% 85.0–95.6% 99.87% 99.74–99.95%

NIPT performance for trisomies 21, 18, and 13 in singleton pregnancies as reported in a large, independent meta-analysis3

Data from a meta-analysis of 37 published NIPT studies between January 2011 and January 2015.

Statistics of Cell Free DNA Screening

Maternal fetal medicine specialist Dr. Tracy Prosen highlights the differences between screening and diagnostic prenatal tests.

Performance Metrics Considerations After Screening

Positive predictive values (PPV) based on performance metrics

Positive predictive value (PPV) refers to the proportion of positive test results that are truly positive. PPV is based on the sensitivity and specificity of the test and the prevalence of the condition in the population being tested. Because the prevalence of autosomal trisomies (e.g. trisomy 21) increases with maternal age, so do the PPVs.

The American College of Medical Genetics (ACMG) recommends that laboratories provide patient-specific PPV when reporting positive results.4 Our test reports provide this information.

For Verifi and Verifi Plus, if a woman receives an aneuploidy detected result for trisomy 21, trisomy 18, or trisomy 13 in a singleton pregnancy, the report will include a PPV based on the test’s sensitivity and specificity for the condition, maternal age, and gestational age.

Click on the below to view a sample test report

Sample Test Report
Chromosome Results PPV (%)
Chromosome 21 POSITIVE: Aneuploidy detected
Results consistent with pregnancy at increased risk for trisomy 21.
Chromosome 18 NEGATIVE: No aneuploidy detected
Results consistent with two copies of chromosome 18.
Chromosome 13 NEGATIVE: No aneuploidy detected
Results consistent with two copies of chromosome 13.

While PPVs are lower in younger women, PPVs for NIPT will be higher than those of traditional serum screening at all maternal ages because NIPT has significantly higher specificity (a lower false positive rate).8

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Why Prevalence Matters for PPVs

Because the prevalence of autosomal trisomies (eg, trisomy 21) increases with maternal age, so do the PPVs. Trisomy 21 is the most prevalent autosomal trisomy in live births. Thus, the PPVs are higher for trisomy 21 than for trisomies 18 and 13,

which are less common. The PPVs below are calculated based on age-related prevalence; the presence of other aneuploidy risk factors (e.g. ultrasound abnormalities) would likely increase the PPVs over those shown here.

ppv prevalence graph
ppv specificity graph
For patients with a positive NIPT result:

Counsel the patient about the NIPT results, the likelihood of a true positive (PPV), and the recommendation for confirmatory diagnostic testing.10,11

To calculate a patient’s individual PPV for sex chromosome aneuploidies, you may wish to use the PPV calculator endorsed by ACOG.12

Assessing Test Failure Rate

The Verifi Prenatal Test has the lowest failure rate in the industry of 0.1%, excluding administered failed samples—that means that 99.9% of the time a result is provided13. It uses next-generation sequencing to analyze cfDNA fragments across the whole genome, which has proven advantages over other NIPT methodologies such as targeted sequencing and array-based methods. Test failure rates are substantially lower with whole-genome sequencing versus other methodologies.13-16

That’s important, and clinically relevant, because not only do test failures negatively impact patient care, they also adversely affect test metric parameters such as sensitivity, specificity, and PPV. By choosing the verifi Prenatal Test, the clinical impact of failures can be reduced.13

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verifi Prenatal Test Infographic

The Illumina Difference

We’re committed to providing laboratories and health care partners with comprehensive solutions and test options to improve human health. Published data shows, that NGS with whole-genome sequencing (WGS) is the NIPT technology of choice—when compared to targeted approaches.

With over 99.7% of NIPT samples in these studies run on Illumina NGS technology, we’re helping advance breakthrough in prenatal screening. It’s what makes the verifi Prenatal Test, with the lowest failure rate of any noninvasive prenatal test on the market, the best choice for patients.

Click on the below to view the samples run data table.

99.7% of NIPT Samples in Published Studies Were Run on Illumina NGS Systems (2011-2017)

Getting Started with NIPT

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  1. Committee Opinion No. 640: Cell-free DNA Screening for Fetal Aneuploidy. Obstet Gynecol. 2015;126(3):e31-37.
  2. Benn P, Borrell A, Chiu RWK, et al. Position statement from the Chromosome Abnormality Screening Committee on behalf of the Board of the International Society for Prenatal Diagnosis. Prenat Diagn. 2015;35(8):725-734.
  3. Gil MM, Quezada MS, Revello R, Akolekar R, Nicolaides KH. Analysis of cell-free DNA in maternal blood in screening for fetal aneuploidies: updated meta-analysis. Ultrasound Obstet Gynecol. 2015;45(3):249-266.
  4. Gregg AR, Skotko BG, Benkendorf JL, et al. Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics. Genet Med. 2016;18(10):1056-1065.
  5. Gardner RJM, Sutherland GR, Shaffer LG. Parental age counseling and screening for fetal trisomy. Chromosome abnormalities and genetic counseling. 4 ed: Oxford University Press; 2012:403-416.
  6. Benn P, Curnow KJ, Chapman S, Michalopoulos SN, Hornberger J, Rabinowitz M. An Economic Analysis of Cell-Free DNA Non-Invasive Prenatal Testing in the US General Pregnancy Population. PLoS One. 2015;10(7):e0132313.
  7. Wellesley D, Dolk H, Boyd PA, et al. Rare chromosome abnormalities, prevalence and prenatal diagnosis rates from population-based congenital anomaly registers in Europe. Eur J Hum Genet. 2012;20(5):521-526.
  8. Bianchi DW, Parker RL, Wentworth J, et al. DNA sequencing versus standard prenatal aneuploidy screening. N Engl J Med. 2014;370(9):799-808.
  9. Malone FD, Canick JA, Ball RH, et al. First-trimester or second-trimester screening, or both, for Down's syndrome. N Engl J Med. 2005;353(19):2001-2011
  10. Committee Opinion No. 640: Cell-free DNA Screening for Fetal Aneuploidy. Obstet Gynecol. 2015;126(3):e31-37.
  11. Practice Bulletin No. 163: Screening for Fetal Aneuploidy. Obstet Gynecol. 2016;127(5):979-981.
  12. The American Congress of Obstetricians and Gynecologists. NIPT Cell Free DNA Screening Predictive Value Calculator. National Society of Genetic Counselors (NSGC) and Perinatal Quality Foundation (PQF). Endorsed December 2015. 2015; http://www.acog.org/Resources-And-Publications/Endorsed-Documents. Accessed January 28, 2015.
  13. Taneja PA, Snyder HL, de Feo E, et al. Noninvasive prenatal testing in the general obstetric population: clinical performance and counseling considerations in over 85 000 cases. Prenat Diagn. 2016: 36(3): 237-43.
  14. McCullough RM, Almasri EA, Guan X, et al. Non-invasive prenatal chromosomal aneuploidy testing—clinical experience: 100,000 clinical samples. PLoS One. 2014: 9(10):e109173.
  15. Norton ME, Jacobsson B, Swamy GK, et al. Cell-free DNA analysis for noninvasive examination of trisomy. N Engl J Med. 2015: 372(17): 1589-97.
  16. Dar P, Curnow KJ, Gross SJ, et al. Clinical experience and follow-up with large scale single-nucleotide polymorphism-based noninvasive prenatal aneuploidy testing. Am J Obstet Gynecol. 2014: 211(5): 527.e1-527.e17.
  17. Ryan A, Hunkapiller N, Banjevic M, 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;doi:10.1159/000442931
  18. Nicolaides KH. Screening for fetal aneuploidies at 11 to 13 weeks. Prenat Diagn. 2011;31(1):7-15.
  19. Wald NJ, Rodeck C, Hackshaw AK, et al. SURUSS in perspective. Semin Perinatol. 2005;29(4):225-235.

The Verifi Prenatal Test was developed by, and its performance characteristics were determined by Verinata Health, Inc. a wholly owned subsidiary of Illumina, Inc. The VHI laboratory is CAP-accredited and certified under the Clinical Laboratory Improvement Amendments (CLIA) as qualified to perform high complexity clinical laboratory testing. It has not been cleared or approved by the U.S. Food and Drug Administration.