Lecture 01 : Neonatal screening in India - Clinical Aspect

Summary

This lecture discusses the importance of newborn screening in India, a vital health intervention aimed at early detection of genetic, metabolic, and endocrine disorders. Dr. Shi Kundu explores the criteria for selecting disorders for screening, the current status of screening programs in developed countries, and the need for a systematic approach in India. Key disorders for screening include congenital hypothyroidism, hearing loss, and congenital adrenal hyperplasia. The lecture also emphasizes the need for phased implementation, public awareness, and resource allocation to ensure the program's success in reducing mortality, morbidity, and intellectual disabilities.

Takeaways

• 😀 Newborn screening aims at the earliest recognition of disorders in infants to prevent serious long-term consequences through timely intervention.
• 😀 Newborn screening focuses on genetic, metabolic, hematologic, and endocrinal disorders and is done on a mass scale across newborns.
• 😀 Diseases included in newborn screening must meet certain criteria, such as the availability of treatment, high prevalence, and cost-effectiveness.
• 😀 Developed countries typically screen newborns for disorders like hypothyroidism, cystic fibrosis, and hearing loss before discharge.
• 😀 In India, newborn screening is not routinely implemented, and health policies have traditionally focused on infectious diseases.
• 😀 There is a growing need for routine newborn screening in India due to decreasing infectious diseases and the rise of genetic and metabolic disorders.
• 😀 Early detection of disorders like congenital hypothyroidism and hearing loss can prevent intellectual disabilities and growth delays.
• 😀 Universal newborn screening programs should be phased in due to financial constraints, starting with diseases that are most prevalent in India.
• 😀 Newborn screening should be done after 72 hours of birth, with samples taken from blood on filter paper, ensuring the correct environment for sample transport.
• 😀 High-risk newborns (e.g., with a family history of genetic disorders) should be screened for additional metabolic disorders like phenylketonuria and cystic fibrosis.
• 😀 The Ministry of Health has initiated programs to manage hemoglobinopathies, including thalassemia and sickle cell disease, though implementation has been delayed due to the COVID-19 pandemic.

Q & A

What is newborn screening?

Newborn screening is a program that aims to detect certain serious health conditions in newborns before symptoms appear. The goal is to diagnose and begin treatment early to prevent long-term consequences.

Why can't all diseases be included in newborn screening programs?

Not all diseases can be included due to the large number of disorders and the need for specific criteria to prioritize which conditions are most important based on their impact, treatment availability, and cost-effectiveness.

What are the criteria for including a disease in a newborn screening program?

The disease should have a significant health impact, accepted treatment options, an early recognizable stage, a reliable test, a well-understood natural history, and be cost-effective. Additionally, it should be a continuous process, not a one-time screening.

What is the current status of newborn screening in developed countries?

In developed countries, newborn screening is commonly done before discharge due to the high prevalence of certain disorders like hypothyroidism, cystic fibrosis, and hearing loss. Screening helps to prevent morbidity and mortality through early intervention.

What are the key diseases proposed for newborn screening in India?

In India, the key diseases proposed for newborn screening include hearing loss, congenital hypothyroidism, congenital adrenal hyperplasia, and G6PD deficiency. These conditions are prioritized based on their prevalence and the ability to treat them effectively.

Why is newborn screening not yet routine in India?

Newborn screening is not routine in India due to a historical focus on infectious diseases, limited resources, and the challenge of raising awareness about genetic and metabolic disorders. However, with the rise of pre-term births and genetic conditions, there is an increasing need for such programs.

How should newborn screening be implemented in India?

Newborn screening in India should be implemented in phases, starting with the most prevalent conditions. Awareness campaigns, proper healthcare infrastructure, and training for healthcare workers are crucial for its successful rollout.

What challenges exist in implementing newborn screening in India?

Challenges include a high rate of home deliveries, early hospital discharge, cultural barriers, lack of awareness, and financial constraints. These factors hinder the feasibility of widespread newborn screening.

What is the recommended timing for newborn screening samples?

The ideal time for collecting samples is between 72 hours and 7 days after birth. The sample is typically collected through a heel prick, with blood soaked onto filter paper for testing.

What are the categories for newborn screening in India?

Newborn screening in India can be categorized into three groups: Category A (universal screening for all newborns), Category B (high-risk screening for specific at-risk populations), and Category C (expanded screening for resource-rich settings where families can afford additional testing).