NIPT more accurate and safe in detecting chromosomal disorders in unborn babies : Study

2018/05/31
When compared to conventional screening tests, NIPT has proven to be more effective, accurate and a safer way to detect common chromosomal abnormalities such as Down syndrome. NIPT can be conducted as early as 9th week of pregnancy, helping parents make informed decisions
ETHealthWorld | May 31, 2018, 07:10 IST


DELHI / May 30, 2018 – A nationwide study across 10 hospitals has found that NIPT (non-invasive prenatal screening test), is much more effective, accurate and safe for detecting chromosomal abnormalities in the unborn baby, compared to conventional biochemical tests such as the double marker (first trimester) and quadruple marker tests (second trimester), as well as ultrasound studies. The study, initiated by genomics-driven research and diagnostics firm MedGenome, had Dr. I.C Verma, Director of the Institute of Medical Genetics and Genomics at Sir Ganga Ram Hospital, New Delhi as the Principal investigator.

The study, published in the Journal of Obstetrics and Gynecology of India, showed that a chromosomal abnormality detected by Non-invasive Prenatal Screening Test (NIPT) was much more likely to be true and present in the foetus, compared to conventional screening tests, authenticating NIPT to be a much more accurate testing method. India carries a heavy burden of genetic disorders. Studies suggest that chromosomal abnormalities occur with a frequency of 1 in 166 births in India, while Down syndrome (trisomy of chromosome number 21) has a high incidence rate of 1 in 800 births, resulting in the birth of 32,500 babies with Down syndrome every year in India, the highest number in the world. Early and accurate screening with NIPT can help families know about the genetic health of their baby and enable them to seek further help if necessary.

Dr. I C Verma of Sir Gangaram Hospital said: “This is India’s first-ever systematic study on the non-invasive prenatal screening test (NIPT). While the efficacy of NIPT has been well proven in the more developed markets, the results of this unique study in India clearly indicate that even for Indian women, NIPT is highly accurate when compared to conventional screening tests. It is also remarkable to note that pregnancies considered intermediate to high risk through conventional screening methods were found to be low risk with NIPT. This means that a large number (96.2%) of women could potentially avoid invasive procedures such as amniocentesis and chorionic villus sampling which cause emotional anxiety and come with a risk of miscarriage (1 in 1000 for amniocentesis and 1 in 200 for chorionic villus sampling).” Stressing the importance of non-invasive screening procedures,
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