A 17-year-old did clinical research to identify Down Syndrome in its early stages through an AI-powered App

The research mentor was Dr. Somshekhar Nimbalkar, Head of the Neonatology Department, at Bhaikaka University, Karamsad.

Down syndrome (DS) in neonates is associated with high mortality in India. It is due to non-diagnosis / late diagnosis caused by the unavailability of qualified doctors and/or lack of access to expensive medical/diagnostic facilities, especially in rural India. It is necessary to diagnose down syndrome early in neonates which will help to reduce child mortality.

Saanvi Mehra, a class XII student from The Shriram Millennium School, Noida, has done ground-breaking clinical research to identify Down Syndrome in its early stages through an AI-powered App by using a photograph. With the use of artificial intelligence/machine learning graphical pattern recognition tools, relevant facial points can be extracted from children’s photographs, facial abnormalities can be identified, and the probability of DS affliction can be predicted. This model can be used as an effective postnatal screening tool for DS detection.

This research has been highly acclaimed and awarded with some of the most prestigious accolades and has also been published in some of the most reputed medical journals. The winner of “The Young Investigator Award at The European Academy of Paediatrics (EAP)”; at the EAPS Congress 2022 in Barcelona, Spain, Saanvi Mehra has opened the gateway to more ground-breaking work in the area of early detection and management of Down syndrome. Her research work stood out amongst thousands of research papers submitted by postgraduate doctors (MD / DM) and medical students from across the world.

Dr. Mahendra Nath Pandey from the Minister of Heavy Industry, Government of India proudly said that research on `Down syndrome detection using machine learning technology` enabled solutions that can demonstrate the availability of medical facilities to the remotest corner of our vast country.

Leveraging the penetration of smartphones in India, Saanvi, along with her partner Aarna Malhotra, has successfully integrated the machine learning model and AI in a mobile application that can be used by parents / ASHA workers, paramedics, and doctors whereby just by clicking the picture of the baby, Down Syndrome can be detected with a remarkable accuracy of over 96 percent. The result of early detection is not just a reduction in the mortality rate of these children but also a better lifestyle due to timely treatment.

This project has won several awards and recognition, including Google Code to Learn (National Winner), IRIS (Top 100 projects in India), and Technovation (Top 5 Apps in India). The research article on Down Syndrome Detection Through Graphical Analysis of Facial Dysmorphic Features in Newborn Children With Ethnicity/Racial Slicing: An AI/ML-Based Approaches was also published in the renowned Journal of Neonatology. In this, the researchers were Saanvi Mehra, Dr. Somshekhar Nimbalkar, Head of the Neonatology Department, Bhaikaka University, Karamsad, along with the other three.

	Bhaikaka University Gokalnagar, Karamsad – 388325 Gujarat, India
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