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How Does Non-Invasive Prenatal Testing Work?

As the baby develops, cell free DNA (cfDNA) enter the mother's blood stream via the placenta. iGene® involves taking a small sample of maternal blood, which is then sent to our laboratory for analysis.

iGene® is based on whole genome sequencing coupled with BGl's proprietary bioinformatics algorithm. Millions of reads from sequencing data across the genome are analysed to enhance the precision and accuracy of the test results.


1. Dan et al., Prenatal Diagnosis 2012;32;1-8. 2. Jiang FM, et al. BMC Medical Genomics, 2012, 5:57.

What We Test

iGene® provides superior accuracy for the screening of Trisomy 21, 18, 13, sex chromosome aneuploidies and deletion syndromes. iGene® is suitable for at-risk expectant mothers who may be considering, or have been offered, invasive prenatal diagnostic testing for fetal trisomy.

While the iGene® test can be done as early as 10 weeks, we recommend waiting till the 12th week, when the pregnancy is more stable.

View what a mother has to say about our test:

iGene Test Coverage For Australia

Comparisons with Current Screening Technologies

The detection rates of the currently available screening tests vary from less than 70% to 84%, implying that between
16% to over 30% of abnormal fetuses are not detected. Using advanced Next Generation Sequencing technology,
iGene® is more than 99% accurate, compared with these existing screening tests1,2,3,4,5.


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


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


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


An explanation of the different types of screening technologies

Source 1. Dan et al., Prenatal Diagnosis 2012;32;1-8. 2. Jiang FM, et al. BMC Medical Genomics, 2012, 5:57. 3. Zhang H, et al. 2015 Ultrasound Obstet. & Gynecol. 45:530-538. 4. Lewis, C. et al. Public Health Genomics 2013. 5. Bianchi et al. 2014. The New England Journal of Medicine, 2014 Feb, 370:799-808.

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