Delivers the Lowest
Non-Reportable rate compared to other NIPTs

iGene® has been validated prospectively on over 146,000 cases, the world’s largest published clinical study on non invasive prenatal test to date.

See our Published Studies
1

Accuracy

iGene® has a 99.02% sensitivity and 99.86% specificity for T21 (Down Syndrome), T18 (Edwards Syndrome) and T13 (Patau Syndrome), with false positive rate of 0.05% and false negative rate of 0.003%, demonstrating that the test will detect almost all cases of fetal trisomy.1


  • iGene® is based on the world’s largest published clinical study based on over 146,0001 pregnant women for non-invasive prenatal tests
  • High accuracy for detection of T21, T18 and T13: >99%1
  • High sensitivity for T21, T18 and T13: 99.02%1
  • High specificity for T21, T18 and T13: 99.86%1
  • Lowest non-reportable rate: 0.1%1


Source: 1. Zhang H, et al. (2015) Ultrasound Obstet. & Gynecol. 10.1002/uog,14792.

2

The World's Largest Study to date

iGene® has been clinical validated on the largest study to date, with over 146,000 samples¹. The sample size of over 146,000 is important to make credible inferences about its efficacy in average risk pregnancies. iGene® delivers high positive predictive values compared to other NIPT tests. In practice, a test designed using a small sample size would result in large confidence intervals.

 

Compared to other tests, iGene® has tight confidence levels, at 95% for trisomies 21, 18 and 135,6, respectively highlighting the superior accuracy of this test. The larger the Confidence Intervals (CI) gap, the less accurate the test, and less reliable is the true sensitivity and specificity estimates.


Source 1. Zhang H, et al.(2015) Ultrasound Obstet. & Gynecol. 10.1002/uog.14792. 2. McCullough, Ron M. et al. (2014) PLoS ONE. 3. Norton et al 2015 N Engl J Med. 4. Dar, P et al. 2014. Am J Obstet Gynecol 5. Dan S, et al. Prenatal Diagnosis 2012, 32(13), 1225-32 6. Jiang FM, et al. BMC Medical Genomics, 2012, 5:57



3

Positive Predictive Value

The positive predictive value (PPV) is one of the most important measures of a screening test. It measures the probability that a positive result is truly positive, or the proportion of patients with positive test results who are correctly identified.

 

Traditional screening technologies for the detection of fetal abnormalities, such as the First Trimester Screen (FTS), have shown PPV of only 4.2%2. A PPV of 4.2%2 implies that only 42 women in 1000 with a positive test result will actually have a fetal abnormality. The remaining 958 women will have experienced a false positive test.

 

A low PPV means that many women with a positive screening test will suffer needless anxiety, and need to undergo invasive diagnostic procedures such as amniocentesis and Chorionic villus sampling (CVS). iGene® on the other hand, achieves a PPV of 99.29%1, making it one of the most accurate non-invasive prenatal tests available today.


Source 1. Dan et al., Prenatal Diagnosis 2012;32;1-8. 2. Bianchi et al., Obstet Gynecol 2012; 119-890-901 3. McCullough, Ron M. et al. (2014) PLoS ONE 4. Norton, M, et al (2012) Am J Obstet Gynecol. 5. Dar, P et al. 2014. Am J Obstet Gynecol. 6. Jiang FM, et al. BMC Medical Genomics, 2012, 5:57.




4

Lowest Non-Reportable Rate

iGene® has the lowest published non-reportable rate to date at 0.1%1, compared with other non invasive prenatal tests, which have non reportable rates of up to 6.4%4.


Source 1. Zhang H, et al. 2015 Ultrasound Obstet. & Gynecol. 45:530-538. 2. McCullough, Ron M. et al. (2014) PLoS ONE. 3. Norton et al. 2015. N Engl J Med 372, 1589-1597. 4. Dar et al. 2014, American Journal of Obstetrics & Gynecology, 2014 Nov, 211:527.e1-527.e17



5

Comparison with SNPs method

iGene® is based on whole genome sequencing approach, which reads millions of DNA sequences, allowing higher accuracy that other technologies cannot match. It relies on a quantitative method using 5-10 million reads. This allows for a more complete picture, facilitating detection of not only the most common trisomies, but also sex chromosome abnormalities and deletions.


Source : 1. Zhang H, et al. 2015 Ultrasound Obstet. & Gynecol. 45:530-538. 2. Dar, P et al. 2014 Am J Obstet Gynecol. 3. Hayes, Inc GTE Report Noninvasive prenatal testing (NIPT) for fetal aneuploidy. Hayes, Inc. Lansdale, PA. 2013.



6

Performance

The Performance of three methods: coefficient of variation (CV).

We calculated the CVs (y-axis) among the different chromosomes (x-axis) for the 903 samples with karyotyping. The different methods are the color-coded (Orange: iGene test; Green: GC correct z-score approach; Dark Blue: Standard z-score approach; Light Blue: Internal chromosome control based z-score approach). In the clinically interesting chromosomes (13, 18, 21).

 

The iGeneTM approach obtained the lowest CVs, indicating a higher sensitivity and specificity than all previously reported z-score approaches for the detection of autosomal and sex chromosomal aneuploidy.

 


Source 1. Jiang FM, et al. BMC Medical Genomics, 2012, 5:57



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