NewBorn Screening Awareness Month
Newborn screening (NBS): Say YES to a happy & healthy childhood

September is Newborn Screening Awareness Month, and the 2024 theme is "Breaking Barriers: Inclusive Support for Children with Birth Defects."

Newborn screening is a crucial public health service in India, ensuring that every newborn is tested for specific serious conditions right after birth. This early screening allows doctors to start treatment before any harmful effects can occur, offering the best possible outcomes for the baby.

In India, newborn screening protocols may vary by state, but many states follow guidelines that include testing for conditions such as phenylketonuria (PKU), cystic fibrosis, sickle cell disease, critical congenital heart disease, and hearing loss. Some regions also include additional disorders in their screening panels.

The conditions included in newborn screening can lead to severe health issues if not treated promptly. Early detection and management are essential to prevent life-threatening complications and ensure healthier lives for affected children.

In India, newborn blood spot screening is commonly used to test for inherited and metabolic disorders. This involves a simple heel prick to collect a few drops of blood, typically within the first 24 to 48 hours of life. Some states also require follow-up screenings several weeks after birth to ensure the baby's health.

As the field of newborn screening evolves, standardization in methods such as dried blood spot screening has become increasingly important. These advancements improve testing accuracy and lead to better outcomes for newborns across the country.

What is NewBorn Screening ?

Newborn screening is a public health service that involves testing newborn babies for certain serious and treatable medical conditions. The purpose of this screening is to identify conditions early, often before symptoms appear, so that treatment can be started promptly to prevent severe health problems or even death.

The screening typically involves a few key tests:

  1. Blood Spot Test: A small prick on the baby's heel is used to collect a few drops of blood, which are tested for a range of inherited and metabolic disorders.
  2. Hearing Test: This test checks for hearing loss, which is important for speech and language development.
  3. Heart Screening: Some programs include tests for critical congenital heart defects using pulse oximetry, a simple, non-invasive test to measure oxygen levels in the blood.

The specific conditions tested for can vary by region or country, but common ones include phenylketonuria (PKU), cystic fibrosis, sickle cell disease, and congenital hypothyroidism.

Early detection through newborn screening allows for timely medical interventions, which can significantly improve outcomes and quality of life for affected children.

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Why NewBorn Screening is important ?

Newborn screening is important for several critical reasons:

  1. Early Detection of Serious Conditions: Newborn screening identifies serious, often life-threatening conditions shortly after birth, before symptoms appear. Early detection is crucial because many of these conditions can lead to severe complications or even death if not treated promptly.

  2. Prevention of Long-Term Disabilities: Many conditions detected through newborn screening, if left untreated, can cause irreversible damage, including intellectual disabilities, physical deformities, or developmental delays. Early intervention can prevent or minimize these outcomes, allowing the child to develop more normally.

  3. Timely Treatment: Newborn screening enables healthcare providers to start treatment immediately. This is especially important for conditions where early treatment can significantly improve outcomes, reduce complications, and enhance the quality of life.

  4. Improved Quality of Life: By identifying and managing conditions early, newborn screening helps ensure that affected children can live healthier, more normal lives. Many conditions detected through newborn screening are manageable with appropriate treatment.

  5. Cost-Effective: Early diagnosis and treatment through newborn screening can reduce the long-term costs associated with treating severe complications or disabilities that may arise if a condition goes undetected. Early intervention often means less invasive and less costly treatment.

What is the process of NewBorn Screening ?

The process of newborn screening involves several key steps to ensure that newborns are tested for certain serious health conditions shortly after birth. Here's how it typically works:

  1. Collection of the Blood Sample:
    • Timing: Usually between 24 to 48 hours after birth, a small blood sample is taken from the newborn.
    • Method: A healthcare professional pricks the baby’s heel with a small needle (lancet) to collect a few drops of blood.
    • Blood Spot: The blood is placed on a special filter paper, creating what’s known as a “dried blood spot.”
  2. Sample Preparation and Transport:
    • The blood spot card is allowed to dry and then sent to a laboratory that specializes in newborn screening.
    • The transport process is typically quick to ensure that testing occurs as soon as possible.
  3. Laboratory Testing:
    • Analysis: In the lab, the blood spots are tested for a variety of metabolic, genetic, and endocrine disorders. The specific conditions tested vary by region but commonly include disorders like phenylketonuria (PKU), cystic fibrosis, sickle cell disease, and congenital hypothyroidism.
    • Technology: Modern laboratories use advanced techniques to test for multiple conditions from a single blood sample.
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  4. Results and Follow-Up:
    • Normal Results: If all the test results are normal, parents are usually not contacted, and the results are recorded in the baby’s medical record.
    • Abnormal Results: If any abnormal results are found, the healthcare provider or the state health department will contact the parents immediately. This does not necessarily mean the baby has the condition, but further testing is required to confirm the diagnosis.
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  5. Confirmatory Testing:
    • If initial screening indicates a potential issue, additional tests are conducted to confirm whether the baby has the condition.
    • This often involves more specific blood tests, urine tests, or genetic testing.
  6. Treatment and Intervention:
    • If a condition is confirmed, the healthcare provider will discuss treatment options with the parents. Early treatment may involve dietary changes, medications, or other interventions depending on the condition.
  7. Ongoing Monitoring:
    • Some conditions detected by newborn screening require lifelong monitoring and treatment. The healthcare team will provide a care plan to manage the condition as the child grows.

Newborn screening is a well-coordinated process designed to identify health issues early, enabling timely treatment and better outcomes for the baby.

Some FAQ on NewBornScreening:-

The following is a list of diseases that can be treated solely through physical therapy sessions.

1. What is NBS?

The newborn screen itself is a specific set of laboratory evaluations and point-of-care examinations performed on newborn infants in an attempt to identify clinically occult but potentially serious disorders that require expedient intervention.

2. How will NBS be helpful for my child?

It will help us diagnose your child for certain severe disorders of intellectual disability (hypothyroidism), sexual maturation (congenital adrenal hyperplasia), and metabolic systems (inborn errors of metabolism) which if managed before the child gets symptomatic, can lead to a good outcome which otherwise can cause permanent physical and intellectual sequelae.

3. How do I decide to go for NBS or not?

Although NBS is still an optional test in India, since it is meant to detect those serious disorders in babies, many of which can easily be managed, you can confidently go ahead and get your little one screened

4. Can disorders be prevented with NBS?

Usually, screening is performed for disorders that are already there but symptoms and complications have not developed. The diagnosis of these disorders during this window period enables timely intervention to prevent permanent sequelae and give a normal healthy life through appropriate management.

5. What types of NBS are available?

There are 2 types of screening available

A. Basic screening – includes screening for common preventable disorders like congenital hypothyroidism, congenital adrenal hyperplasia,biotinidase deficiency, galactosemia, G6PD deficiency and (at some places- congenital hearing loss, critical congenital heart disease)

B. Extended newborn screening- Include the basic screening and those metabolic disorders which if not diagnosed and left untreated can lead to serious neurological and other systemic morbidity. Examples- medium chain fatty acid oxidation defect (MFOD), organic academia like MMA, etc.

Why Choose Infinity Health Care ?

  1. Comprehensive Testing: At Infinity Health Care, we offer a wide range of newborn screening tests, ensuring early detection of serious conditions and giving your child the best start in life.
  2. State-of-the-Art Facilities: We utilize advanced technology and up-to-date methods to ensure accurate and reliable results for your peace of mind.
  3. Timely Interventions: With quick turnaround times for screening results, we ensure that any necessary treatments can begin without delay, safeguarding your baby’s health.
  4. Family-Centered Approach: We prioritize clear communication and support, making sure you feel informed and confident in your newborn’s care.

To reach us please contact on Phone No.8050893556, Balagere Road,Varthur, Email – contactinfinityhealthcare@gmail.com and Website - www.infinityhealthcare.co.in

Written By

Infinity Health Care

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