Less than 2% of newborn babies screened annually for 1-4 disorders in India: PerkinElmer


New Delhi: Despite significant advances in healthcare, low neonatal mortality and child mortality rates are still a distant dream for India. In the country, less than 2% of newborn the babies are screened annually for 1-4 disorders. With the government focus on achieving the 2030 Sustainable Development Goals on child and neonatal mortality, the support of corporates assumes a vital role. The goals which were agreed upon under the United Nations Development Programme, involve the reduction of child mortality to 25 per 1,000 live births and neonatal mortality to 12 per 1,000 live births.

“Unfortunately, after more than a decade of pilot testing in India – the overwhelming majority of births are not screened. Based on the experience of global newborn screening programs, there are four key factors that have been identified as essential for a successful and sustainable program: 1. Government prioritization, 2. Public awareness and education, 3. Health practitioner involvement and 4. Government support in mandating and funding an NBS programme within the existing healthcare system” said Mr. Prahlad Singh, Senior Vice President, PerkinElmer.

Perkin Elmer is helping to identify approximately 70 infants daily with a presumptive congenital disorder. The company has also lent support to Indian Council of Medical Research (ICMR)’s multi-center study for congenital hypothyroidism (CH) and congenital adrenal hyperphasia (CAH) which covered 100,000 newborns at 5 Centres (Delhi, Mumbai, Hyderabad, Chennai, and Kolkata) in the past. This pilot was the largest ever done in India.

“Worldwide, approximately 136 million babies are born per year, of which 49 million babies are screened annually. We estimate 40-45 million are screened annually of 140 million babies born. Of the 87 million babies not screened, 27 million are born in India. In India, less than 2% of the babies are screened annually for 1-4 disorders. PerkinElmer instruments, reagents and software systems have been used worldwide to screen over 500 million babies (cumulative). Today, we are helping to identify approximately 70 infants daily with a presumptive congenital disorder. The single largest volume newborn screening lab globally is located in Cairo, Egypt, where more than 1.2 Million samples are screened annually for congenital hypothyroidism. China has approximately 17 Million births annually, with more than 85% being screened in laboratories across the country. Newborns in Australia, Korea, the Philippines, Vietnam and other neighboring countries are also screened for 3 – 5 disorders. What is common to all of the programs is that the screening is done using PerkinElmer’s newborn screening systems,” he said.

Newborn screening typically uses blood taken from a heel prick, which is absorbed into a special ‘regulatory approved’ barcoded filter collection paper, and transported to the newborn screening laboratory. The blood samples should be collected within 24 – 48 hours of birth. Then, the blood specimen will be transported or mailed to the centralized laboratory within 24 hours after specimen collection, and the appropriate tracking documentation maintained with periodic review for timely delivery assurance. Once the specimens reach the screening laboratory they are accessioned. This may include bar-coding or applying some other form of the unique ID number to the sample collection device. Demographics are entered into a Laboratory Informatics Management System for each specimen. A portion of the sample is then punched out the collection card, placed in a microplate and the biochemical analysis is initiated. Once the plates are punched they are transferred into the screening equipment, which will then perform the sample preparation and measurement automatically. The screening equipment comes with pre-designed software that calculates the screening results and produces a report automatically with the concentration results from each of the samples. If a sample shows signs of a particular disease, known as a presumptive positive, further diagnostic tests are conducted to confirm the presence of the disorder. After the diagnosis is confirmed by the special assessment, the newborn is termed as a positive. Parents of such a newborn should be given adequate counseling to help them deal with the situation and prepare for management.

Perkin Elmer is also committed to lending support to government’s healthcare initiatives and helping the country achieve a single digit neonatal rate by 2030.

“We are committed to contributing to national health policies in India and state government initiatives, bringing technology advancement, innovation, and quality in healthcare service delivery. We continue to collaborate and welcome partnerships with various government agencies, such as the Indian Council of Medical Research, Biotechnology Industry Research Assistance Council, Indian Institute for Technology and professional associations, namely Indian Academy of Paediatrics, FOGSI, National Neonatology Forum, Indian Medical Association, Indian Association for Medical Genetics to help meet young entrepreneurial researchers’ needs as they work toward advancing their science and developing transformational solutions,” Dr. Singh said.

“In India, we are looking to support both the national and state governments’ efforts to achieve various targets to achieve sustainable development goals, such as to end preventable newborn deaths to achieve a single digit neonatal mortality rate by 2030; and to achieve universal and equitable access to safe and affordable drinking water for all by 2030,” Dr Ruchi Sogarwal, PerkinElmer, added.