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

Bengaluru,April 2nd March XX, 2018 –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 analyse 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 triploidy in a cohort of pregnant women with intermediate to high risk on conventional screening.

With a small blood sample taken from themother’s arm, the NIPT screening test analyses cell free DNA of the fetus todetect chromosomal abnormalities. The screening test issafe and non-invasive.With a detection rate of over 99% and a false positive rate of less than 0.03 %the screening test is highly accurate. In situations where NIPT has beenimplemented, a significant reduction of 50-70% in invasive procedures has beenobserved.

In the study, NIPT screening was performedon 516 pregnancies, who had tested intermediate to high risk on conventionalscreening test (Double marker, Quadruple marker test) in the first and secondtrimester. The results were confirmed through invasive testing or clinicalexamination post birth. Over 98% were reportedlow risk and 2% tested high riskon NIPT for the conditions tested. The test showed that an abnormality detectedby NIPT was much more likely to be actually present and thereforeauthenticating that NIPT test was much more likely to truly detectabnormalities as compared to conventional screening(Double Marker test,Quadruple marker test)

It is remarkable to note that thoseconsidered intermediate to high risk pregnancies through conventional screeningwere found to be low risk with NIPT. Meaning,a large number (98.2%) of thewomen couldpotentially avoid invasive procedures such asamniocentesiswhichcause emotional anxiety and come with a small risk of miscarriage.

Dr. Priya Kadam, Program Director- NIPT,MedGenome, emphasizing the importance of non-invasive screening process said,“NIPT is not gestation age specific and can be offered to all pregnant women tobe assured of their baby’s health. Also, due to high accuracy, safety and lowfalse positive rate NIPT is a viable option for any pregnant woman and can beperformed from as early as the 9th week of a pregnancy.”

Currently, NIPT may be used in cases with high-risk results onconventional screening to avoid unnecessary invasive tests. Furt herreduction in cost

and greater awareness would provide thebenefits of this Currently, NIPT may be used in cases with high-risk results onconventional screening to avoid unnecessary invasive tests. Furt herreduction in cost and greater awareness would provide thebenefits of this

She further added, “NIPT is a revolutionarytest and with increased awareness and adoption this test can help significantly reduce our country’s genetic disorderburden.

The leading hospitals and institutesparticipated in the study were: Sir Ganga Ram Hospital, New Delhi, RainbowHospital, Hyderabad, Amrita Institute of Medical Sciences and Research Center,Kochi, Sri Ramchandra Medical College, Chennai, All India Institute of MedicalSciences, New Delhi, Post graduate institute and Medical Research Center,Chandigarh, Jawaharlal Nehru Institute of Post graduate Medical Education andResearch, Pondicherry, CIMAR Fertility Center, Kochi, Manipal Hospital,Bengaluru, Indraprastha Apollo Hospital, New Delhi.

MedGenome currently offers a wide array oftests across key disease areas at its CAP certified lab in Bangalore, includingExome sequencing, Liquid Biopsy and Carrier Screening.

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