Newborn screening

A healthy start begins with early detection.

A newborn may look healthy at birth, and clinical examination may appear normal. However, some rare genetic, endocrine, and metabolic conditions may be present. If not detected early, delayed treatment can lead to severe consequences such as neurodevelopmental delays and, in extreme cases, even death. Newborn screening is a universal public health program, widely accepted and practiced in developed countries, aimed at reducing mortality and morbidity in newborns.

Newborn Screening – A Simple, Essential, and Efficient Test for

Transforming Potential Crises into Promise

Why Newborn Screening is Important ?

Newborn screening identifies conditions that can affect a child’s long-term health or survival. Early detection, diagnosis, and intervention can prevent death or disability, enabling children to reach their full potential.

When Will Baby Be Tested?

Newborn screening tests are usually performed 48-72 hours after birth, typically before baby leave the hospital.

What diseases are tested in screening?

Phenylketnuria (PKU- phenylalanine )
Congenital Hypothyroidism – TSH (Thyroid Stimulating Hormone)
Galactosaemia – GALT (Galactose-1-phosphate Uridyl Transferase)
Congenital Adrenal Hyperplasia (CAH) – 17OHP (17α-Hydroxyprogesterone)
G-6-PD Deficiency – G6PD (Glucose-6-Phosphate Dehydrogenase)
Cystic Fibrosis – IRT (Immunoreactive Trypsin)
Biotinidase Deficiency – BTD

Phenylketonuria (PKU)

Excess phenylalanine builds up in the body, affecting brain development. Early diagnosis and a special diet can help children grow and develop normally.

Galactosemia

Body cannot process galactose from milk, causing vomiting, jaundice, liver damage, and growth problems. Early detection and dietary management are essential.

Congenital Hypothyroidism

Insufficient thyroid hormone slows growth and brain development. Timely hormone therapy prevents intellectual disability and promotes healthy growth.

Congenital Adrenal Hyperplasia (CAH)

Hormonal imbalance may lead to dehydration, growth issues, and abnormal development. Lifelong treatment can normalize hormone levels and prevent complications.

Cystic Fibrosis

Thick mucus in lungs and digestive tract causes infections and poor nutrient absorption. Early treatment improves lung function and overall health.

G6PD Deficiency

Genetic condition causing red blood cells to break down under certain stressors. Symptoms include fatigue, jaundice, dark urine, and anemia; avoid triggers to stay healthy.

Biotinidase Deficiency

Prevents recycling of vitamin biotin, leading to seizures, developmental delays, skin rashes, and hair loss. Biotin supplements prevent or reduce symptoms.

Trusted Screening Powered by Science

Ugene Labs Pvt Ltd. is a leading provider of advanced prenatal and newborn genetic screening, committed to ensuring healthier beginnings for every child.