The preliminary reports of a first of its kind, validated study on Non-Invasive Prenatal screening Test (NIPT) on Indian population does strongly suggest that it helps obstetricians and pregnant women across age groups to better manage their pregnancy at a very early stage.

Dr. I.C. Verma and Dr. RatnaPuri from Sir Ganga Ram Hospital were the principal investigators of the study. The study sponsored by Bengaluru based MedGenome and their partner was conducted over the last ten months in collaboration with ten institutions across India to provide meaningful insights into the prenatal screening and diagnostic practices. Blood samples of pregnant women certified as high or intermediate risk by the conventional serum screening method were collected from across the country.

The NIPT test was conducted on the samples at MedGenome’s state-of- the-art laboratory in Bengaluru. The study’s preliminary results have been extremely encouraging on the positive impact that NIPT can have on the pregnancies in India. The initial results indicate that over 96% of pregnant women categorized as high risk in the traditional screening could potentially avoid the invasive procedures” If we consider these initial results of this study against the number of births in India each year (over 25 million births), the number of pregnant women who might be undergoing the invasive tests unnecessarily are extremely significant. A detailed report of the study will be released very soon.

The initiative is also important at the wake of the latest statement issued by the American College of Medical Genetics and Genomics (ACMG) very recently, suggesting that “Non-invasive prenatal testing can replace conventional screening for Down Syndrome, Patau syndrome, Edward syndrome across all maternal age spectrums for a continuum of gestational ages beginning from 9 – 10 weeks gestation”.

ACMG is the most recent medical society to advocate for broader adoption of NIPT, including recommendations that encourage NIPT as the optimal initial screening test for all pregnant women, regardless of age or other risk factors. These latest guidelines reflect the growing consensus among genetic experts that the clinical benefits of NIPT are far superior to the existing conventional screening options, including Maternal Serum Screening (MSS).

“We believe that tests such as NIPT can change the way the invasive procedures on pregnancies are administered in our country, providing the obstetrician, pregnant women and her family with insights to make informed decisions and manage the baby’s health better”, said Sam Santhosh, chairman, MedGenome. He opined “Recommendations by the highly regarded and scientific organizations such as ACMG speak volumes about the benefits offered by NIPT”.

The NIPT screening examines fetal DNA in the mother’s blood to assess whether a developing baby is at high risk for having an abnormality in the chromosomes. It’s extremely simple. Unlike an invasive procedure such as Amniocentesis, where a needle is inserted into the mother’s womb (amniotic sack) to collect amniotic fluid, NIPT does not involve any invasive procedure of the womb. All that NIPT needs is a blood sample drawn from the mother’s arm to screen for trisomy 21 (Down’s syndrome), trisomy 18 (Edwards syndrome), trisomy 13 (Patau syndrome) and select X & Y chromosome abnormalities, such as monosomy X (Turner syndrome). The NIPT screening can be performed from as early as the 9th week of gestation. In contrast to traditional prenatal genetic testing like chorionic villus sampling and amniocentesis which are invasive tests and NIPT does not pose any risk to the fetus.

MedGenome also announced crossing the 1000 test milestone of NIPT at the state-of-the-art lab in Bengaluru. On this occasion, MedGenome is launching three new variants of the NIPT screening.