Newborn Screening Tests To enable timely intervention and treatment, newborn screening tests are essential early diagnostic techniques used to identify a variety of serious and sometimes fatal diseases in newborns. Usually, during the first 24 to 48 hours following delivery, a few drops of blood are drawn from the infant’s heel for these tests. The main objectives are identifying viral infections and metabolic, genetic, and endocrine abnormalities.

These are a few of the most typical ailments in neonates that are checked for:

When the metabolic condition phenylketonuria (PKU) is left untreated, the body becomes unable to break down the amino acid phenylalanine, which can result in intellectual impairment.

Congenital hypothyroidism:

A disorder characterized by insufficient thyroid hormone production by the thyroid gland, which impairs growth and development.

A hereditary condition called cystic fibrosis affects the lungs and digestive tract, leading to serious respiratory and digestive issues.

Sickle Cell Disease:

A hereditary blood condition that results in sickle-shaped red blood cells, which can cause anemia, pain, and other life-threatening consequences.

Untreated, Maple Syrup Urine Disease (MSUD) can cause physical and intellectual impairments by impairing the body’s capacity to metabolize specific amino acids.

Galactosemia is a metabolic disorder characterized by the body’s inability to effectively metabolize the sugar galactose, which can cause major health problems such as liver damage and intellectual incapacity.

A collection of uncommon but dangerous genetic illnesses known as severe combined immunodeficiency (SCID) results in a severely compromised immune system and increased vulnerability to infections.

Hearing Loss:

Interventions that promote language acquisition and development can result from early detection of hearing loss.

Critical Congenital Heart Disease (CCHD):

Pulse oximetry can detect significant cardiac anomalies early, preventing delayed or life-threatening treatment.

How are newborn screening tests done?

1. Heel Prick Test, or Blood Spot Test Timing:

2. Usually completed 24 to 48 hours following delivery.

Method:

A medical practitioner will prick the baby’s heel to take a few drops of blood. Next, the blood is put on a certain type of filter paper.
Processing: A laboratory receives the blood spots and tests them for phenylketonuria (PKU), congenital hypothyroidism, sickle cell disease, cystic fibrosis, and other metabolic abnormalities.
Goal: Timely treatment and management of various illnesses can result from early discovery, greatly enhancing the prognosis.

2. Procedure for Hearing Screening:Timing: Usually completed in the first few days of life, just before the infant leaves the hospital.

Techniques:
Otoacoustic Emissions (OAE) Test: To play gentle noises in the baby’s ear canal, a tiny earpiece or microphone is inserted. It is measured by how the ear reacts to sound.
Automated Auditory Brainstem Response (AABR) Test: The infant’s head and neck are fitted with tiny sensors. Earphonto plays gentle music, while sensors record the brain’s reaction.

3. Pulse Oximetry Procedure: 
   Timing: Usually carried out 24 hours after birth but before hospital discharge.

Method: To monitor the oxygen levels in the blood, a tiny sensor is applied to the baby’s hand and foot.
The goal is to identify serious congenital cardiac abnormalities (CCHDs) that may not be visible with a physical examination alone.

4. Bilirubin Test Methodology:Time: Usually completed in the initial days of life.

Techniques: Transcutaneous Bilirubin (TcB) Screening: To assess bilirubin levels, a specific device is applied to the baby’s skin.
Serum Bilirubin Test: A blood sample may be taken to validate the results if the TcB screening shows elevated bilirubin levels.
The goal is to look for jaundice, which is typical in infants. If left untreated, elevated bilirubin levels might cause major consequences.

5. Critical Congenital Heart Defect (CCHD) and Hearing The screening process
   Time: Done just before the infant is discharged from the hospital.

Method: For CCHD, a physical examination and, if necessary, an echocardiography may be carried out in addition to pulse oximetry.
Goal: Prompt identification of cardiac abnormalities enables prompt intervention and therapy.

What happens if my baby’s test shows signs of a health problem?

If your baby’s test results indicate a health concern, the next course of action will usually entail many follow-up steps to identify and manage the issue.

Additional Testing: To validate the first results, more testing is frequently required. These might consist of more specialized blood tests, imaging tests (such as MRIs, ultrasounds, or X-rays), or other diagnostic techniques.

Specialist Referral: Your child may be referred to a pediatric cardiologist, neurologist, endocrinologist, or geneticist, depending on the type of suspected health issue. Experts possess the knowledge and skills necessary to identify and treat particular ailments.

Monitoring and Observation: In certain cases, particularly when test findings are inconclusive or the disease is mild, the doctor may suggest a period of observation and monitoring to determine if the symptoms improve on their own or if the issue persists.

Treatment Plan: Following confirmation of the diagnosis, a plan of care will be formulated by the medical staff. This treatment may include prescription drugs, lifestyle modifications, physical or occupational therapy, or, in certain situations, surgery.