Because that was the ONE CHANCE
I had to be absolutely sure and so
I just wanted to take it.

-Charu

iGene® is Safe


Up until now, accurate prenatal testing meant invasive procedures such as Amniocentesis and Chorionic Villus Sampling (CVS) - both of which carry up to a 1% risk of miscarriage.21, 22

iGene® is a safe and non-invasive test that requires only 10ml of blood from the mother. Because no needles come anywhere near the baby, there is absolutely no risk of miscarriage whatsoever.

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Comparisons with Current Screening Technologies


The detection rates of screening tests currently available vary from less than 70% to a high of 84% implying that 16% to 30% abnormal fetuses are potentially missed during screening. In addition, the false positive rate of 5% means that 1 in 20 women undergoing screening will be subjected to an invasive test, where 19 out of 20 (95%) of these would return a normal result.


DETECTION RATE

This is the rate at which correct detections of chromosomal abnormalities are made.

FALSE POSITIVE RATE

This is when the test comes back positive when in fact there is no abnormality present. Learn More

FALSE NEGATIVE RATE

This is when the test comes back negative when in fact an abnomality does exist.


LEGEND: IGENE® 1ST TRIMESTER NUCHAL TRANSLUCENCY TRIPLE TEST


An explanation of the different types of screening technologies



Up until recently the FTS was considered the best option for prenatal screening with its 84% detection rate. For a long time, the medical community was searching for a prenatal screening test with the following attributes:

99% (or higher) detection rate
1% (or lower) chance of missing a fetal trisomy
1% (or lower) false positive rate


With its high detection rates, NIPT tests such as iGene® is recommended by The American Congress of Obstetricians and Gynecologists (ACOG) as a screening option for women at increased risk of aneuploidy and for women with a positive first or second trimester screening result.

iGene® is more than 99% Accurate1


The iGene® test gives the expectant mother complete assurance about the health of her unborn baby. It is more than 99%1 accurate in the detection of trisomies (an abnormality when three copies of a particular chromosome are present, instead of the usual two copies.) The most common trisomies are Trisomy 21 (Down Syndrome), Trisomy 18 (Edwards Syndrome) and Trisomy 13 (Patau Syndrome).


Learn more about the accuracy of iGene® on our Clinical Data page.

The World's Largest Study to Date



iGene® has been clinically validated on the largest study to date, with over 146,000 samples. [20] The sample size of 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.[20]


Compared to other tests, iGene® has tight confidence levels, at 95% for trisomies 21, 18 and 13[1,2], 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. 


Why PPV Is Important


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%9. A PPV of 4.2%9 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.


Source: 1, 9

Lowest Non-reportable Rate

Legend: iGene® Other Tests

In some cases a non-invasive prenatal test is deemed non-reportable. This means that not enough DNA information is acquired during the analysis to make an assessment. In this case. a retest is required.

iGene® has the lowest published non-reportable rate to date, at only 0.1%20. This means in nearly every instance, the test is successful and the patient receives a report, at first go.

Other prenatal tests have non-reportable rates of up to 6.4%10, meaning there is a likelihood of having to take the test again.


Source: 10, 19, 20, 24

Click the links below to find out more



References


1. Clinical application of massively parallel sequencing-based prenatal noninvasive fetal trisomy test for trisomies 21 and 18 in 11,105 pregnancies with mixed risk factors.

Dan S, Wang W, Ren J, Li Y et al., Prenatal Diagnosis, 2012 Nov 9:1-8. doi: 10.1002/pd.4002.

2. Noninvasive fetal trisomy (NIFTY) test: An advanced noninvasive prenatal diagnosis methodology for fetal autosomal and sex chromosomal aneuploidies.

Jiang F, et al. BMC Medical Genomics, 2012 Dec;5:57. doi:10.1186/1755-8794-5-57.

3. Clinical utility of noninvasive fetal trisomy (NIFTY) test – early experience.

Tze Kin Lau, Mei Ki Chan, Pui Shan Salome Lo et al., The Journal of Maternal-Fetal & Neonatal Medicine, 2012 October; 25(10): 1856–1859.

4. Noninvasive prenatal diagnosis of common fetal chromosomal aneuploidies by maternal plasma DNA sequencing.

Lau TK, Chen F, Pan X et al., The Journal of Maternal-Fetal & Neonatal Medicine, 2012 Aug;25(8):1370-4.

5. Noninvasive prenatal genetic testing for fetal aneuploidy detects maternal trisomy X.

Yao H, Zhang L, Zhang H et al., Prenatal Diagnosis, 2012 Nov;32(11):1114-6.

6. Prenatal Detection of Aneuploidy and Imbalanced Chromosomal Arrangements by Massively Parallel Sequencing.

Dan S, Chen F, Choy KW et al., PLoS ONE 7(2): e27835. doi:10.1371/journal.pone.0027835.

7. Non-invasive prenatal screening of fetal down syndrome by maternal plasma DNA sequencing in twin pregnancies.

Lau TK, et al., Journal of Maternal-Fetal and Neonatal Medicine, 2013 Mar;26(4):434.

8. Secondary findings from non-invasive prenatal testing for common fetal aneuploidies by whole genome sequencing as a clinical service.

Lau TK, Jiang FM, Stevenson RJ, Lo TK, Chan LW, Chan MK, et al., Prenatal Diagnosis, 2013 Jun;33(6):602-

9. DNA Sequencing versus Standard Prenatal Aneuploidy Screening.

Bianchi et al. 2014. The New England Journal of Medicine, 2014 Feb, 370:799-808.

10. Clinical experience and follow-up with large scale single-nucleotide polymorphism-based noninvasive prenatal aneuploidy testing.

Dar et al. 2014, American Journal of Obstetrics & Gynecology, 2014 Nov, 211:527.e1-527.e17

11. Harmony webpage. Commercial Communication.

12. Data presented at the 33rd National Society of Genetic Counselors Annual Educational Conference (NSGC AEC).

13. DNA sequencing of maternal plasma to detect Down syndrome: An international clinical validation study.

Palomaki et al., Genetics in Medicine 2011:13(11);913-920

14. Genome-wide fetal aneuploidy detection by maternal plasma DNA sequencing.

Bianchi et al., Obstet Gynecol 2012;119:890-901

15. Non-Invasive Chromosomal Evaluation (NICE) Study: results of a multicenter prospective cohort study for detection of fetal trisomy 21 and trisomy 18.

Norton et al., American Journal of Obstetrics and Gynecology 2012. 207:137.e1-8

16. Noninvasive prenatal testing for fetal trisomies in a routinely screened first-trimester population.

Nicolaides et al., American Journal of Obstetrics and Gynecology 2012;207;374.e1-6

17. Implementation of maternal blood cell-free DNA testing in early screening for aneuploidies.

Gil et al., Ultrasound Obstet Gynecol 2013. 42(1):34-40.

18. Non-invasive prenatal aneuploidy testing at chromosomes 13, 18, 21, X, and Y, using targeted sequencing of polymorphic loci

Zimmermann et al., Prenatal Diagnosis 2012;32;1233-1241

19. Non-Invasive Prenatal Chromosomal Aneuploidy Testing - Clinical Experience: 100,000 Clinical Samples.

McCullough, Ron M. et al. (2014) PLoS ONE.

20. Noninvasive Prenatal Testing for Trisomy 21, 18 and 13 - Clinical Experience from 146,958 Pregnancies.

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

21. The Royal Australian and New Zealand College of Obstetricians and Gynaecologists

22. National Birth Prevalence estimates for selected birth defects in the United States

Parker, S. et al. Birth Defects Res A. 2010, 88, 1008-16.

23. Screening for chromosomal abnormalities in the first trimester using ultrasound and maternal serum biochemistry in a one-stop clinic: a review of three years prospective experience

Spencer, K. British Journal of Obstetrics and Gynecol. 2001, 108,1043-46.

24. Cell-free DNA Analysis for Noninvasive Examination of Trisomy

Norton et al. 2015. N Engl J Med 372, 1589-1597.

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