Advantage of Newborn Screening Test by Dr. Vikas Bhalla (MBBS,MD (PAEDIATRICS)

Advantage of Newborn Screening Test by Dr. Vikas Bhalla (MBBS,MD (PAEDIATRICS), Diploma in Developmental Pediatric Neurology)

 

Newborn Screening

 
Need of future in India 
 
 
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.
 
 
The Newborn Screening Test screens the baby for over 50 conditions under
 
• Haemoglobinopathies – Genetic disorders resulting in faulty haemoglobin. Includes sickle cell disease, Thalassemia. 
• Endocrine Disorders – Conditions causing hormonal excesses or deficiencies. Include Hypothyroidism.
• Carbohydrate Disorders – Conditions affecting the metabolism of carbohydrates. Include Lactose Intolerance
• Inborn Errors of Metabolism – Genetic conditions affecting metabolism.
 
 
Early detection of many disorders, mainly inherited, is feasible with population-wide analysis of newborn dried blood spot samples. Phenylketonuria was the prototype disorder for newborn screening  and early dietary treatment has resulted in vastly improved outcomes for this disorder. Testing for primary hypothyroidism and cystic fibrosis (CF) was later added to programs following the development of robust immunoassays and molecular testing.
 
 
 
Congenital hypothyroidism. Data from various parts of India for CH suggests varying incidences; from North India (Chandigarh) 1 in 3400, Southern India (Kochi) 1 in 500, and Eastern part of the country 1in 600. The data clearly suggests the significant burden of CH in India. TSH is a marker of iodine deficiency and in belts where this continues to be an important health issue, a high TSH may not be due to problems inherent to neonatal thyroid pituitary axis but as a result of iodine deficiency. 
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. 
 
 
 
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.
 
• 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.
 
Major nbs criteria. wilson and Jungner criteria. 
 
1. The condition is an important health problem and early diagnosis benefits the baby.
2. An accepted treatment is available as well as facilities for confirmation, counselling and treatment.
3. A suitable test is available.
4. The natural history of the condition is understood and there is a recognisable latent or early symptomatic stage.
5. The costs of screening, confirmation and treatment should be balanced against the overall costs of not screening.
 
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.
 
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.
 
 

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