Wednesday, January 8, 2014

Down Syndrome detection with zero risk to mother and baby now in Mumbai

by Sumitra Deb Roy from The Times of India:
MUMBAI: A new revolutionary technology called NACE (Non-invasive Analysis for Chromosomal Examination) with more accuracy as compared to 1st trimester screening has been introduced in Mumbai. It can detect chromosomally linked diseases like Down syndrome with a simple blood test. It can precisely tell a pregnant mother, as early as three months into her pregnancy, whether her child has Down syndrome.
Currently, tests such as amniocentesis and Chorionic Villus Sampling (CVS) are widely used to detect any chromosomal abnormality but these tests are invasive and carry a high risk resulting in a miscarriage. The NACE test is performed on the cell free fetal DNA, which is extracted from the mother's blood via a simple blood draw, hence posing zero risk to the baby and to the mother. It is done from the 10th week to the 16th week of pregnancy, giving enough time for the woman to be counseled accordingly.
"NACE test has a 99% specificity of either confirming or ruling out genetic disorders such as Down syndrome. In case NACE confirms the possibility of a genetic disorder; invasive amniocentesis can be done to validate the results. The main advantage of using NACE is that it is non-invasive and it poses zero risk to fetus and has no risk of abortion," said Dr Ashish Parulekar, gyanecologist and IVF specialist. He added that the test is especially suitable for women with a high risk of chromosomal abnormalities after the 1st trimester screening (scan and hormonal analysis, double and triple marker test) or who have had a previous pregnancy resulting in Down syndrome, Edward's syndrome, Patau's syndrome or sex linked abnormalities.
Every year approximately 23,000 to 29,000 children are born in India with Down syndrome in India. Around 85-90% of such cases can be detected if pregnant mothers opt for genetic screening.
According to Dr Pere Mir, medical director of Iviomics, "NACE is a revolutionary screening test offering a highly accurate analysis by using the latest next-generation sequencing technology. This simple and safe analysis averts the risk of fetal loss present in amniocentesis procedure, hence available for every pregnant woman."

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