Image for representation purposes only. (Daniel Lobo via Filckr/Creative Commons)


January 14, 2015

NEW DELHI: It may now be easier to detect genetic and chromosomal disorders in early stages of pregnancy and prevent birth of affected children, as a “safe and accurate” prenatal screening method is now available in India.

The test known as ‘Panorama’, which has been introduced by a leading provider of genomics solutions for personalised healthcare, was launched today in the capital.

“The technology used in Non-Invasive Prenatal Testing (NPTI) which can detect genetic disorders in the foetus as early as nine weeks of pregnancy, has been available abroad.

“So far, the blood samples had to be shipped to USA if someone needed to undergo the test, but now the tests will be available in India,” I C Verma, Head of Department, Medical Genetics at the Sir Ganga Ram Hospital here said at the launch.

According to estimates, nearly “1.3 lakh babies” with chromosomal disorders are born in India every year, the highest in the world, the company claimed.

The test will examine foetal DNA in the mother’s blood to assess whether a developing baby is at high risk for having an abnormality in the chromosomes. It will screen the blood sample for chromosomal disorders including trisomy 21 (Down’s Syndrome), trisomy 18 (Edwards syndrome) and trisomy 12 (Patau syndrome).

“In contrast to traditional prental genetic testing by invasive tests, Panorma doesn’t not pose any risk for the foetus,” Verma claimed, adding, “the test is completely safe and gives accurate results.”

An invasive method like amniocentesis and chronic villus sampling involves needles being inserted into the uterus, which is slightly risky to the foetus, where as non-invasive techniques include examinations of the woman’s womb through ultrasonography and maternal serum screens.

“As per estimates, chromosomal abnormalities occur in about 1 of 200 live births. Infants with these abnormalities have mental retardation and suffer from malformations and disabilities. Due to the large number of births (26 million per year), India has the largest number of babies born with chromosomal disorders in the world (1,30,000 per year), Sam Santhosh, CEO, MedGenome said at the launch.

The test, will be facilitated in India by an agreement signed between Natera, global leader in non-invasive genetic testing and MedGenome. As per the agreement, the company will have exclusive license to develop capacity and perform the test in India.

The test will be available at a cost of Rs 30,000, which is around Rs 10,000 less than what costed earlier, Verma said.

In order to frame guidelines for use of NIPT in India, a research study will be conducted by the Ganga Ram Hospital and MedGenome which will involve 1000 women at high risk of chromosomal diseases in the foetus, it said.

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