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Why NGS-based prenatal screening may offer better outcomes

With new Covid variants emerging everywhere Next Generation Sequencing (NGS) has become critical in the fight against Covid.

By Dr Priya Kadam

The past year has been a watershed year for Indian healthcare. The ongoing Covid pandemic has changed the way healthcare is looked at in this country. Similar to the way digital payments and e-commerce have become more mainstream in our lives, molecular diagnostics have become more mainstream in healthcare diagnostics. Real-Time PCR which used to be a specialised test is now more or less a routine lab test. Now with new Covid variants emerging everywhere Next Generation Sequencing (NGS) has become critical in the fight against Covid.

About a decade ago, most diagnostic tests that a patient was aware of were based on analysing various biochemical products. These tests measured the products of the chemical reactions that have already taken place in our bodies and were confirmation of the condition. But now, with the advent of NGS the diagnostic industry is not only able to provide a routine genetic diagnosis but also predict outcomes much before depending on the genetic make-up of an individual. This kind of diagnosis is paving the way for better screening tests to accurately predict the outcome of an individual’s genetic makeup.

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One area where NGS is slowly but steadily emerging as the standard for testing is in the field of prenatal screening. This is an area where would-be parents can utilise the power of NGS tests to screen their child for any kind of genetic disease. There is a range of tests starting from Carrier Screening which checks the couple for any common mutations that they could pass on to their children to Non-Invasive Prenatal Testing (NIPT), which screens the foetus for common chromosomal abnormalities to PreImplantation Genetic Testing, which screens IVF embryos for chromosomal abnormalities before implantation.

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NGS-based tests are known for their accuracy and better predictive abilities. In prenatal screening, this can be particularly valuable to couples who are planning to start a family or expand their existing one. Take the case of a 37-year-old woman who was 13 weeks pregnant. Her first-trimester scan and biochemical screening test showed her as low risk for Trisomy 21, a condition where there is any additional Chromosome 21 which could lead the child to have Downs Syndrome. She nevertheless opted for a NIPT test for her peace of mind. But the NIPT test showed that the baby was at high risk for Trisomy 21. She went on to do a confirmatory diagnostic test which confirmed that the baby was indeed having the Trisomy 21 condition. This is just one case where accurate NGS genetic testing has helped couples make an informed decision about their future families.

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Traditional tests were the norm before the emergence of NGS-based NIPT testing. This change has accelerated over the past year since NIPT offers the convenience of being Non-Invasive. In the current Covid surge where hospitals are full of covid patients and patients are wary of visiting a hospital for routine prenatal screening, NIPT has emerged as the test that can provide couples with the most accurate screening with the minimal amount of exposure to the hospital environment.

(The writer is Director, Reproductive Genomics, MedGenome)

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