Newborn Screening for babies

Newborn screening is the first and most important test to be done for the baby. It is a simple procedure that checks the baby for hidden medical conditions that cannot be identified by the physician just by looking at the baby. These conditions if left undetected can lead to serious illness, brain damage or mortality. Newborn screening enables early detection and treatment that can help the baby lead a normal life.

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The Newborn Screening Test screens the baby for over 50 conditions under

Haemoglobinopathies – Genetic disorders resulting in faulty haemoglobin. Includes sickle cell disease, Thalassemia and so on.

Endocrine Disorders – Conditions causing hormonal excesses or deficiencies. Include Hypothyroidism

Infectious Diseases

Carbohydrate Disorders – Conditions affecting the metabolism of carbohydrates. Include Lactose Intolerance

Inborn Errors of Metabolism – Genetic conditions affecting metabolism

Newborn screening is a mandatory test in over 60 countries including USA, Australia and New Zealand. These countries have an Infant Mortality Rate of less than 10 per 1000 births. However, in India, only less than 1% of infants are screened and every year over 1.6 million babies are born with birth defects. The mortality rate in India is at an alarming 44 per thousand live births.

Why Newborn Screening & When to do it

Why Newborn Screening & When to do it

when is it done

A newborn may appear normal at birth but may have a hidden medical condition. As the child grows, these conditions could later manifest into serious illnesses and affect the growth and life of the child. Newborn screening is a simple test that can be performed 48 hours after the baby’s birth to rule out these risks.

Why is newborn screening essential ?

  • Newborn screening checks for rare, serious but treatable conditions at birth before they cause irreversible damage to the baby
  • Sometimes a baby could have a condition even if there is no family history to it
  • Early detection allows early treatment which usually involves a change in diet or medication that can help the baby live a normal life

Newborn screening test is to be done between 48 & 72 hours from the time of the baby’s birth ideally. It is important that parents get this test done for their babies before leaving the hospital. However it is also recommended that older babies who did not  undergo screening can avail test irrespective of their current age.

How to do the Newborn Screening Test

Newborn screening is a simple and safe test that involves few steps. Upon sign-up a collection kit containing special filter papers is provided for sample collection.

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SAMPLE COLLECTION

Newborn screening is a simple and safe test that involves few steps. Upon sign-up a collection

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BEST PRACTICES FOR NEWBORN SCREENING

Here are some newborn screening best practices recommended to parents that will provide the best outcome of the test to help babies make the right start

 

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WHILE DECIDING TO TAKE THE TEST

Most babies do not test positive for a condition. However for the small percentage of babies that do, the benefit of newborn screening is enormous to take the right steps ahead

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DURING THE TEST

A prick on the baby is fearsome and many parents are left wondering if the test will hurt the baby.

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AFTER THE TEST

Sometimes parents are requested for a repeat sample. This however does not mean that the baby has a problem.

Test Reports

test-reports

The newborn screening test reports are the gateway to a healthy future for the baby. The test results give parents the right guidance to provide the best care in bringing up the baby. The reports are generally made available the very next day and sent to the doctor/hospital from where they can be collected. The reports are also made available online in this website.

The test results could have one of the following possibilities:

  • The results show no abnormalities for the conditions screened. This means the baby is healthy or The baby could be a risk for one or more of the conditions. This however does not mean that the baby has the condition.
  • Testing positive for one of the conditions indicates increased risk of a medical condition. An additional test may be necessary to confirm the same and the parent is contacted when such need arises

Treating Screened Conditions

The Newborn Screening Test screens the baby for over 50 conditions under

  • Haemoglobinopathies

    Genetic disorders resulting in faulty haemoglobin. Includes sickle cell disease, Thalassemia and so on

  • Endocrine Disorders

    Conditions causing hormonal excesses or deficiencies. Include Hypothyroidism

  • Infectious Diseases

  • Carbohydrate Disorders

    Conditions affecting the metabolism of carbohydrates. Include Lactose Intolerance

  • Inborn Errors of Metabolism

    Genetic conditions affecting metabolism

treating screened conditions

If the baby is diagnosed with any of the conditions, sometimes all it takes is a change in diet or guided medication. The conditions are not completely curable, however early intervention can vastly reduce the severity and impact of the conditions.

Learn how some of the conditions can be managed in an easy way:

ConditionWhat happens if left untreatedHow to manage
Phenylketonuria Body is unable to breakdown amino acids Mental retardation, behavior problems, hyperactivity, seizures etc Avoiding foods rich in protein such as milk and dairy products including cheese, yoghurt, meat & poultry, eggs, nuts & peanut butter, dried beans and regular flour
Congenital Hypothyroidism Thyroid hormone deficiency present at birth Growth failure and intellectual disability Treated through simple thyroxine treatment that is inexpensive and easy to administer
Galactosemia Inability to metabolize the sugar Galactose Liver enlargement, kidney failure, cataracts, brain damage and mortality Avoiding milk and milk based products