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MedGenome Concludes the First Indian Systematic Study on Non-invasive Prenatal Testing

Bengaluru, Apr 2 (UNI) MedGenome, a pioneer and market leader in genomics-based diagnostics and research,along with ten other research collaborators conducted India’s first systematic study on Non-invasive prenatal screening test (NIPT). The study was conducted to analise the performance of NIPT in Indian population at MedGenome’sCAP certified Bangalore Laboratory.
The main objective was to evaluate the performance of NIPT for trisomies 21,18,13, X & Y chromosome abnormalities and triplody in a cohort of pregnant women with intermediate to high risk on conventional screening. With a small blood sample taken from the mother’s arm, the NIPT screening test analyses cell free DNA of the fetus to detect chromosomal abnormalities. The screening test is safe and non-invasive. With a detection rate of over 99 per cent and a false positive rate of less than 0.03 per cent the screening test is highly accurate. In situations where NIPT has been implemented, a significant reduction of 50-70 per cent in invasive procedures has been observed.
In the study, NIPT screening was performed on 516 pregnancies, who had tested intermediate to high risk on conventional screening test (Double marker, Quadruple marker test) in the first and second trimester. The results were confirmed through invasive testing or clinical examination post birth. Over 98 per cent were reported low risk and 2 per cent tested high risk on NIPT for the conditions tested. The test showed that an abnormality detected by NIPT was much more likely to be actually present and therefore authenticating that NIPT test was much more likely to truly detect abnormalities as compared to conventional screening(Double Marker test, Quadruple marker test)
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