Newborn Screening

Newborn screening is a range of tests performed to check for developmental, metabolic and genetic disorders in infants when they are 1 or 2 days old. It refers to the process of screening your baby for serious but rare health issues at birth. The screening procedure tends to vary across countries. The tests are performed to examine metabolic, haemoglobin, hormonal and genetic disorders in your newborn baby and quickly start its treatment.

Newborn Screening: Methods and Techniques

Newborn screening is divided into three parts: screening your baby's hearing sense, and heart and taking a blood test.

Blood test: It includes taking a blood sample to examine any severe or rare health conditions. Your doctor will prick your baby's heel. They will collect a few blood drops on special paper. The blood sample is usually taken after 24 hours after birth. You will receive the results within 5 to 7 days and typically shared before the baby is discharged or done at a later date.

Heart Screening: It includes screening your baby's heart to check for ailments like critical congenital heart defects or critical CHDs. The procedure uses pulse oximetry to evaluate the oxygen in the baby's blood.

Hearing Screening: It involves placing tiny earphones around your baby's ears. Your baby's response to sound is examined through special computers.

What are different newborn screenings offered?

The type of newborn screening tests varies depending on the country and state. Besides, the tests can differ as the technology improves or advances. The screening helps in identifying different problems, which include:

Hormone problems: Hormones are essential chemical messengers created by glands. Hormonal issues can happen when the glands make too much or too little hormones. Newborn screening is conducted to identify underlying problems like congenital adrenal hyperplasia and congenital hypothyroidism.

Metabolic issues: Metabolism helps in converting food into energy. The process includes enzymes and special proteins helping speed the chemical reactions in the cells. Metabolic problems happen when the body is devoid of these enzymes. The newborn screening helps in examining metabolic disorders, including:

• Tyrosinemia
• Phenylketonuria (PKU)
• Maple syrup urine disease (MSUD)
• Citrullinemia
• Methylmalonic Acidemia
• Medium chain acyl CoA dehydrogenase (MCAD) deficiency

Haemoglobin issues: Hemoglobin is red blood cells that help carry oxygen throughout the body. Some of the haemoglobin issues are detected through newborn screening. It helps in identifying underlying haemoglobin problems like:

• Haemoglobin sickle cell disease
• Sickle cell disease
• Beta thalassemia

Genetic disorders: These are ailments that are caused due to mutation or defect in a chromosome or gene. Some of the serious medical issues that are diagnosed through newborn screening:

• Cystic fibrosis
• Galactosemia
• Pompe disease (glycogen storage disease type II)
• X-linked adrenoleukodystropy
• Biotinidase deficiency
• Spinal muscle atrophy (SMA)
• Severe combined immunodeficiency (SCID)

Organic acid metabolism problems: Babies detected with organic acid metabolism cannot break down food. A newborn screening test will help to identify issues like:

• Methylmalonic acidemia
• Propionic acidemia
• Isovaleric acidemia
• 3-hydroxy-3-methyl glutaric aciduria
• 3-methylcrotonul-CoA carboxylase deficiency
• Glutaric acidemia type 1
• Holocarboxylase synthase deficiency
• Beta-keto thiolase deficiency

Fatty acid oxidation disorders: During digestion, the body breaks fats into fatty acids. Newborn children with fatty acid oxidation issues cannot convert fats into energy. The screening helps to identify related problems like:

• MCAD - Medium-chain acyl-CoA dehydrogenase deficiency
• CUD – Carnitine uptake defect/ carnitine transport defect
• VLCAD – Very long-chain acyl-CoA dehydrogenase deficiency
• TFP -Trifunctional protein deficiency
• LCHAD – Long-chain L-3 hydroxy acyl-CoA dehydrogenase deficiency

Screening tests also help to examine critical congenital heart disease and hearing loss. These cannot be detected using blood tests and require an advanced hearing and heart screening.

It is necessary to consult your doctor if you believe your baby may require other newborn screening tests, which your state may not offer

Newborn Screening: Results

The newborn screening results for heart and hearing disorders are available quickly after the test. The blood test results will be available when the baby is 5 to 7 days.

What if the Results of Newborn Screening Aren't Normal?

Often the screening results tend to be normal. However, your doctor may recommend additional tests if the result is negative. Your baby's healthcare provider will suggest a diagnostic test to confirm if there is a health problem.

If the diagnostic test results are normal, there will be no need for more testing. However, if the results are not positive, your provider will determine the best treatment to manage the condition with close monitoring, diet restrictions, supplements and medications.

Newborn screening is performed in infants within 24 to 48 hours of birth. However, it is essential to note that a positive test result does not mean the baby has a medical condition. 

Request an appointment at Apollo Cradle, Hyderabad - Jubilee Hills. Call 1860-500-4424 to book an appointment.