Newborn Screening Programmes in India

Background and Current Status

Key National Programmes and Initiatives

1. Rashtriya Bal Swasthya Karyakram (RBSK)

• Congenital Hypothyroidism (CH)
• Congenital Adrenal Hyperplasia (CAH)
• G6PD deficiency
• Sickle cell disease

• Visual screening - Head-to-toe physical exam (visible defects like neural tube defects, cleft lip)
• Instrument-based - For functional defects (hearing, vision, cardiac)
• Blood spot testing - For metabolic disorders
• Anthropometric - For chromosomal anomalies like Down syndrome

2. UMMID Initiative (Unique Methods of Management and Treatment of Inherited Disorders)

• Antenatal component: Universal NBS for haemoglobinopathies; family history-based risk assessment for conditions including Duchenne muscular dystrophy, Fragile X syndrome, SMA, cystic fibrosis, and lysosomal storage disorders
• Neonatal component: Expanded metabolic screening in selected districts

3. NEEV Mission (Delhi)

4. SERB Feasibility Study (Delhi State)

State-Level / Regional Model Programmes

Conditions Screened (Summary Panel)

• Congenital Hypothyroidism (CH) - most widely screened; incidence ~1:1000-2500 in Indian studies
• Congenital Adrenal Hyperplasia (CAH)

• Sickle cell disease (SCD) - particularly relevant in tribal and high-prevalence belts
• Other haemoglobinopathies (thalassaemias)

• G6PD deficiency
• Phenylketonuria (PKU)
• Galactosaemia
• Biotinidase deficiency
• Inborn errors of metabolism (IEMs) detectable by MS/MS (amino acid disorders, organic acidaemias, fatty acid oxidation defects) - mainly in private sector

• Congenital hearing loss
• Congenital cardiac defects (CCHD)
• Congenital cataract/glaucoma
• Down syndrome
• Neural tube defects (Park's Textbook of Preventive and Social Medicine)

Specimen Collection

• Heel-prick blood collected at 5-10 days after birth (ideally 48-72 hours for some disorders)
• Several drops of blood collected on filter paper (dried blood spot/DBS)
• Sent to central/regional screening laboratory

Challenges and Gaps

1. No national mandate: Over 60% of births occur in public hospitals where NBS is not routinely available
2. Low follow-up compliance: Screen-positive infants often have poor follow-up, a key challenge identified in Indian pilot studies
3. Geographic and population heterogeneity: Diverse disease prevalence across states makes a single uniform panel difficult
4. Infrastructure deficit: Lack of confirmatory diagnostic labs, trained personnel, and treatment centres in many states
5. Limited disease prevalence data: National/state-level incidence data for most screenable conditions remains sparse
6. Private-public divide: Expanded NBS (20-50+ conditions by MS/MS) is available in private sector but unaffordable for most
7. Awareness: Low public and even healthcare provider awareness about NBS benefits

Future Directions (as of 2025-2026)

• Genomic NBS (gNBS): India's large birth cohorts, developing national genomic databases (e.g., GenomeIndia), and expanding rare disease initiatives create an opportunity for genomic newborn screening programmes. A 2025 paper (Jolly & Scaria, Medical Journal, Armed Forces India) proposed a roadmap for gNBS in India.
• India Newborn Action Plan (INAP 2014) targets single-digit neonatal mortality, with NBS as a key contributing strategy
• WHO 1999 recommendation for neonatal screening using clinical and biochemical methods aligns with INAP goals
• Expansion of RBSK to include more metabolic conditions is under consideration

Summary Table

Liquid Paraffin (Mineral Oil) - Paediatric Dosage

What it is

Dosage by Age Group

For Faecal Disimpaction (Weight-Based)

Administration Rules

• Give only at bedtime (to minimise aspiration risk while lying down) - or at least not with meals
• Can be mixed with fruit juice to improve palatability
• Do not use in children with:
  • Swallowing difficulties / dysphagia
  • Gastro-oesophageal reflux disease (GORD)
  • Neurological impairment (aspiration risk)
  • Age under 3 years

Place in Therapy (Paediatric Guidelines)

"If PEG is not available or tolerated, the next most appropriate laxative is liquid paraffin." - RACGP Australian Paediatric Constipation Guideline 2018

Key Adverse Effects to Counsel

Quick Reference Summary

• Under 3 years: Do NOT use
• 3-12 years: 1 mL/kg/day (max 40 mL/day), or 5-20 mL/day by age
• Disimpaction: 3 mL/kg/day in 2 divided doses for 3 days
• Over 12 years: 10-40 mL/day
• Always give at bedtime, never in children with swallowing problems or reflux

Liquid Paraffin - Contraindications and Duration of Treatment

Contraindications

Absolute Contraindications

Relative Contraindications / Cautions

"Mineral oil should not be taken at bedtime" (in adults), and must never be given to bedridden or neurologically impaired patients. - Goodman & Gilman's Pharmacological Basis of Therapeutics

"Liquid paraffin may not be used in children with swallowing difficulties due to aspiration risk. Where liquid paraffin is deemed necessary, it should only be prescribed following discussion with a consultant and only after all other treatment options have been exhausted." - Children's Health Ireland Guideline

Duration of Treatment - By Clinical Indication

1. Faecal Disimpaction (Short Course)

2. Maintenance Therapy (Chronic Functional Constipation)

"Maintenance treatment should be continued for at least 2 months, and FC symptoms should be resolved for at least 1 month before weaning is initiated." - ESPGHAN/NASPGHAN Management of Functional Constipation

3. Weaning

• Do not stop abruptly - taper gradually
• Approximately 50% of children with functional constipation can stop maintenance treatment within 6-12 months of initiation
• Weaning can begin when: defecation frequency ≥3 times/week and no other Rome IV criteria fulfilled

Summary Box

Practical Prescribing Rules (Standard Guidelines)

1. Prescribe only after all other options (PEG, lactulose) have failed or are unavailable
2. Give at bedtime (to reduce but not eliminate aspiration risk) - though some guidelines say to give in the morning in children to avoid nocturnal aspiration; always give upright
3. Put onto a repeat prescription with scheduled 2-week review after starting
4. Never stop abruptly - wean gradually
5. Counsel parents about aspiration risk, fat-soluble vitamin depletion with prolonged use, and perianal leakage

Complications of Liquid Paraffin (Mineral Oil)

1. Pulmonary Complications

Lipoid (Lipid) Pneumonia - Most Serious Complication

• Mineral oil is bland and enters the bronchial tree without triggering the cough reflex
• It mechanically impedes ciliary action of the airway epithelium
• Alveolar macrophages accumulate and phagocytose the emulsified oil
• When macrophages disintegrate, they release lysosomal enzymes and oil
• Alveolar septa become thickened and oedematous with lymphocytes and lipid-laden macrophages
• Oil droplets enter pulmonary lymphatics and hilar nodes
• Ultimately: fibrosis develops and normal lung architecture is effaced
• Goldman-Cecil Medicine

• Exogenous lipoid pneumonia - from aspiration of mineral oil (the concern with liquid paraffin as laxative)
• Can present as chronic, silent disease or acute pneumonitis

• Arterial blood gases: hypoxaemia (rest or exercise)
• PFTs: restrictive ventilatory defect, decreased lung compliance
• Sputum: macrophages with vacuoles (5-50 µm) staining deep orange with Sudan IV
• CXR: air-space infiltrates in dependent portions (bilateral or unilateral)
• HRCT: consolidated areas of low attenuation and "crazy paving" pattern
• May mimic bronchogenic carcinoma ("paraffinoma" on imaging) - Goldman-Cecil Medicine

• Children under 3 years
• Neurologically impaired children
• GORD / oesophageal disease
• Bedtime administration (recumbent position)
• Debilitated or bedridden patients

2. Nutritional / Metabolic Complications

Fat-Soluble Vitamin Malabsorption

"Bariatric surgery and, in older persons, continuous use of mineral oil as a laxative may lead to [Vitamin A] deficiency." - Robbins & Kumar Basic Pathology

"Mineral oil...may decrease maternal absorption of fat-soluble vitamins including vitamin K, increasing risk for neonatal hypoprothrombinemia and haemorrhage." - Yamada's Textbook of Gastroenterology, 7th Ed.

• Risk is greatest with prolonged/chronic use
• Particularly concerning in growing children with increased nutritional demands

3. Anorectal Complications

4. Gastrointestinal / Tissue Complications

5. Concerns About Carcinogenicity

• Animal studies show carcinogenicity in certain rodent species
• Some researchers suggest indirect carcinogenic potential via pulmonary fibrosis from chronic aspiration
• No direct evidence for carcinogenicity in humans from oral use at laxative doses
• Archives of Disease in Childhood, BMJ commentary: "there is no direct evidence for liquid paraffin-induced carcinogenicity in humans, despite prolonged use"

Summary Table