In search of bloom or gloom in the womb

Two doctors take up the challenge to create prenatal awareness among clinicians and would-be parents through technology

Published: 30th July 2016 10:00 PM  |   Last Updated: 31st July 2016 11:33 AM   |  A+A-


For couples wanting to choose whether to continue or terminate a pregnancy in case the child shows signs of genetic disorders like Down Syndrome, MedGenome non-invasive prenatal testing can be a blessing.

When the genomics-based research and diagnostics company, headquartered in California with a branch in  Bengaluru, decided to introduce Non-Invasive Prenatal Testing (NIPT) named Panorama—a simple blood screening that detects abnormalities in newborns—they knew they were foraying into a complex territory. With genetic disorders being the third most common cause of mortality in newborns in India, almost half a million  infants with malformations and 21,000 with Down Syndrome are born every year. Addressing roadblocks of a pertinacious demographic diversity, Dr Priya Kadam stepped in with a quality of not assuming that the advanced screening portends extraordinary acceptance in the country.

Changing.jpgAfter working at the National University of Singapore on NIPT, Cancer Biology and Genetics, and having filed patents in the US and China for prenatal testing, Kadam knows that a glimpse showing the health of a life growing within a mother can be comforting, and devastating too. “Not many people know that 70 per cent of Down Syndrome cases are seen in mothers who are below 35 years. It is best to undergo screening as the results can be a valuable input to the would-be parents and the consulting obstetrician,” says Kadam.

MedGenome’s NIPT is a result of being an exclusive licensee of Natera, a US-based genetic testing and diagnostics company. Besides screening Down Syndrome, it also detects other genetic abnormalities caused by extra or missing genetic information in the baby’s DNA. Panorama specifically screens for conditions and syndromes, including Trisomy 21 (Down Syndrome), Trisomy 18 (Edwards Syndrome), Trisomy 13 (Patau Syndrome), Turner Syndrome (Monosomy X) and sex chromosome trisomies.

Kadam’s challenge is to create awareness among clinicians and parents. Pointing out that in India, not many couples go for screening before three months, which is essential to be provided with an early choice, she says, “We launched the programme in August last year and clinicians are now understanding the significance of the testing. But the public at large is still unaware which needs to be changed. State support and a lot of effective counselling is involved.” About Panorama, she says that the screening test applies cutting-edge genomics technologies and proprietary algorithm. “You have to ask your doctor about Panorama prenatal test, get your blood drawn and review results in 7-10 days. The non-invasive prenatal screening test distinguishes between fetal and maternal cell-free DNA,” she says.


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