A new technology called NACE (Non-invasive Analysis for Chromosomal Examination) with more accuracy as compared with first trimester screening has been introduced in city.
This can detect chromosomally linked diseases like Down’s syndrome with a simple blood test. It can tell a pregnant mother, as early as three months into her pregnancy, whether her child suffers from Down’s syndrome.
Currently, tests such as amniocentesis and Chorionic Villus Sampling (CVS) are widely used to detect any chromosomal abnormality, but these are invasive and carry a high risk of miscarriage. The company Iviomics is offering this technique to various hospitals and clinics in India.
The NACE test is performed on 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 10th to 16th week of pregnancy, giving enough time for the woman to be counselled accordingly.
Dr Prathima Radhakrishna, Director, Bangalore Fetal Medicine Centre, said, “NACE test has a 99.9 per cent specificity of either confirming or ruling out genetic disorders such as Down’s 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 poses near zero risk to the foetus and has no risk of abortion. This test is especially suitable for women with a high risk of chromosomal abnormalities after the first trimester screening or who have had a previous pregnancy resulting in Down’s syndrome, Edward’s syndrome, Patau’s syndrome or sex-linked abnormalities,” she added.
Every year, anywhere between 23,000 and 29,000 children are born with Down’s syndrome in India, the highest in the world. 85 to 90 per cent of such cases can be detected if pregnant mothers opt for genetic screening. The test offers lower chances of inaccurate test reporting (false positive index of lesser than 0.1 per cent for Down syndrome) as compared to standard screening methods, she said.
“The NACE test promises a new era in prenatal screening that will be available not only to those at high risk of having a Down’s baby, but routinely used to reassure all pregnant women. Safe and early diagnosis can help families in their physical and emotional preparations, as babies with Down’s syndrome are more likely to have complications after birth,” said Dr Revathi S Rajan, Consultant, Foetomaternal Medicine, Milann Institute of Reproductive Medicine.