A few drops of blood that can change a life: Anmol, Delhi’s newborn screening push | Delhi News

Until now, newborn screening in India has largely remained limited in scale; Kerala has been the only state to implement a free programme, Shalabham, designed to detect congenital, metabolic and genetic disorders within 48 hours of birth. The Delhi initiative, currently being rolled out as a pilot, is among the first large-scale state-led efforts of its kind.

Kapoor said Delhi had been conducting such screening on a limited scale for the last five years. “We have been doing this for the last five years, but only in a project mode. The condition was that the state would eventually take ownership,” she said.

With the rollout of Anmol, Delhi becomes the first state to operationalise an expanded newborn screening programme at such a scale. “There are 56 tests and they will be done simultaneously from a single sample,” Kapoor added.

The tests are to be conducted within the first few days after birth, ideally within 24 hours and up to 7 to 10 days. Early detection is critical, as many of these conditions may not show symptoms immediately but can cause irreversible damage if left untreated, Kapoor said.

Pointing to India’s high birth rate, she added, “There are roughly 800 births per minute in the country. Screening can save about one in 300 lives when you include conditions like hearing loss and other disorders.” Kapoor expressed hope that the model would be replicated nationwide.

Tracing the origin of the initiative, Kapoor said she started working on medical genetics over two decades ago. At the time, the field was still at a nascent stage in India. “There were hardly any prospective studies. We realised there was an urgent need to study genetic disorders not just clinically but from a public health perspective,” Kapoor said.

She maintained that early efforts focused on screening for a small set of conditions, including congenital hypothyroidism and disorders that are often treatable if detected early. “Most of such babies are completely treatable. They can live a normal life. But if the signs are missed, it can lead to lifelong disability,” she added.

A project, supported by the Indian Council of Medical Research, later evolved into a multi-centric study, followed by further research backed by the Department of Science and Technology in collaboration with Delhi University.

Over time, the approach expanded beyond a handful of disorders. “Why test for only one disease when you can detect several together… Even if a child cannot be saved in some cases, prenatal diagnosis can help save the next child…,” Kapoor said.

She added that currently, private hospitals typically screen for only five to six common conditions. The new initiative expands this to over 50 disorders using Tandem Mass Spectrometry (TMS), a technology that can detect a wide range of metabolic disorders from a single blood sample, although it requires expensive equipment and specialised infrastructure.

The screening process itself is simple. “It requires just three to four drops of blood on a filter paper, about 180 microlitres. Based on predefined cut-offs, results are categorised as positive, ambiguous or negative, and follow-up testing is done where needed,” Kapoor said.

In addition to metabolic and genetic conditions, the programme integrates point-of-care screening for hearing impairment and congenital heart disease, both major contributors to early infant mortality. “These are big challenges because many children die within the first few weeks of life due to undetected heart disease,” Kapoor said.

Dr Harish Chillani, former Head of Paediatrics and now a scientist at the Society for Applied Studies, said newborn screening is mandatory in many Western countries. “Even where treatment is unavailable, early diagnosis helps families understand the genetic cause and take preventive steps in future pregnancies,” he added. He emphasised that some conditions, particularly hypothyroidism, are completely treatable with inexpensive medication.

“In India, roughly 1 in 2,500 babies are born with hypothyroidism. If screening is not done early, by the time symptoms appear and the child is brought to the hospital, significant and irreversible brain damage has already occurred. For example, galactosemia, where simply modifying the baby’s diet, avoiding galactose in milk, can prevent intellectual disability,” he said.

Chillani said that many such disorders are inherited in a recessive pattern and are more common in consanguineous marriages – a union between individuals closely related by blood.

He added that the government is also responsible for providing free treatment for certain conditions, including dietary interventions such as lactose-free milk for affected infants. However, awareness remains a challenge, with many families, and even some doctors, not fully informed about available treatments. “The initiative is likely to improve awareness, diagnosis, and access to care, with the most immediate gains expected in the prevention and treatment of hypothyroidism,” he added.

Dr Manish Mannan, Head General Paediatric at Paras Health in Gurgaon, said the scheme will help bridge gaps in early diagnosis and care. “However, the real impact will depend on effective implementation… and a robust follow-up system to ensure that infants who screen positive receive timely confirmatory testing and treatment… If executed well, this initiative has the potential to set a benchmark for newborn screening programmes nationwide,” he added.