MedGenome is working on to execute a major expansion of its non invasive prenatal screening test to reach 200 cities in the country during 2016-2017.This includes metros and tier 2 and tier 3 towns and the services will be offered to the doctors and its channel partners.

The company as an exclusive licensee of Natera’s in India offering this test in 30 cities and is keen to meet the challenge of chromosomal abnormality among newborns. It claims that NIPT is the only brand in the Indian market using second generation SNP technology for testing with the maximum accuracy rates of over 99.84 per cent.

The current scenario for detection of genetic abnormalities is way less than optimal. According to the National Family Health Survey report, only about 33 per cent of pregnant women receive full antenatal care during pregnancy. Early detection of genetic abnormalities is possible through adequate antenatal care and access to appropriate centers and services.

Many pregnant women usually visit doctors very late in their pregnancy when the window to perform screening and address chromosomal abnormalities is lost. Of the pregnant women who receive some form of biochemical screening, especially for common chromosomal abnormalities, over 10-15 per cent may be missed due to inherent limitations of the tests, Dr. Priya Kadam- Programme Director NIPT, MedGenome told Pharmabiz.

Now NIPT screens for Down syndrome and other genetic abnormalities caused by extra or missing genetic information in the baby's DNA. In fact, prevalence of Down syndrome is reported among women in both urban and rural populations. Extensive benefits of NIPT can be expected in India with the wide implementation and careful integration in current prenatal screening protocols. This is expected to reduce the drain caused by genetic disorders on the affected families and society at large, she added.

More over most cases approach the doctors late for testing, when intervention is not legally possible. Another problem faced is the lack of adequate knowledge and awareness of abnormalities, testing and availability of testing. Also, it is still a common misconception that only women over a certain age are high risk and may have a child with a chromosomal abnormality. It must be understood that a woman of any age may be at risk and could be carrying a chromosomal abnormal baby, she added.

The risk of carrying a Down syndrome fetus increases with increasing maternal age. About 70 per cent of Down syndrome babies are born to women below 35 years of age. So far NIPT has fared extremely well in India going by the fact that the test has been validated via a large scale study with a sample size of over 1,000 in the Indian population for high risk pregnancies. “We enable accurate analysis, with a faster turnaround time as the samples do not have to be shipped outside the country for the test”, said Dr. Kadam.

Over 500,000 tests have been conducted worldwide and over 1, 000 in India alone. Newborns with a chromosomal abnormality pose a very significant emotional, social and financial strain on a family. The cost of the test at Rs.32,000 is offset by the enormous benefits of reassurance and comfort to the parents of knowing the wellbeing of the baby. Knowing all this information from the 9th week of pregnancy gives the expecting parents considerable time to be well prepared for any eventuality. Especially in the case of high risk pregnancies the benefits of reassurance are priceless, she said.