Welcoming a newborn into the world is a cherished moment filled with joy and love. However, it is natural for parents to have concerns about their baby’s health. That’s why neonatal screening tests play a vital role in ensuring the well-being of your little one.

This article will answer common questions about neonatal screening, including what it is, how it is done, and why it is done.

What is a neonatal screening test?

A neonatal screening test, or newborn screening test, is a medical procedure performed after your baby is born, usually within the first one or two days of their life. The purpose of this test is to detect serious and uncommon genetic, metabolic, and developmental disorders. It involves examining your baby’s blood, hearing, and heart function.

Although your newborn may not show signs and symptoms of certain health conditions, the neonatal screening test allows your healthcare provider to identify potential health concerns early on. This early intervention can help them take preventive measures or provide necessary treatment to reduce the impact of these disorders on your baby’s well-being and development.

How does a neonatal screening test take place?

Neonatal screening consists of three parts, including:

Blood Test:

A blood test is the primary procedure used for newborn screening. It involves a healthcare provider pricking your baby’s heel to collect a few drops of blood on a special absorbent paper. After that, the blood sample is sent to a laboratory for examination. A blood test identifies rare but severe health conditions that may not be visible at birth. The test’s results are typically available when your baby is around five to six days old.

Hearing Screening:

This screening checks for potential hearing loss in your newborn. During this test, the healthcare provider places small earphones in your baby’s ears and uses specialized computers to observe your baby’s response to sound.

Heart Screening:

Heart screening identifies a group of heart conditions known as critical congenital heart defects (CCHDs) or critical CHDs. It is a non-invasive test that uses pulse oximetry for screening. This screening involves using a pulse oximeter machine and sensors on your baby’s skin to measure the oxygen level in their blood.

These three essential parts of a neonatal screening test are crucial for detecting and addressing potential health concerns early in your baby’s life, allowing early intervention and treatment.

What exactly is being screened for?

Newborn screening can help to detect several health conditions in your baby, including:

• Phenylketonuria (PKU): PKU is a rare inherited condition in which the body cannot effectively metabolize phenylalanine, a protein building block, leading to its accumulation in the blood and potential brain damage. This condition can cause severe learning difficulties in children. However, early detection through newborn screening allows for early intervention and treatment, which can prevent disability and allow affected newborns to live normal lives.
• Congenital hypothyroidism (CHT): CHT occurs in children born with underdeveloped thyroid gland function. However, early intervention with daily thyroid hormone treatment and a specialized diet can help affected infants achieve normal mental and physical development.
• Cystic Fibrosis (CF): CF is a genetic disorder where the mucus produced in the lungs and intestines is thicker and stickier than normal, affecting various organs, particularly the lungs and digestive system. It causes breathing difficulties, lung infections, poor nutrient absorption, and other health complications.
• Galactosaemia:Galactosaemia is a rare condition where galactose, a sugar found in milk, accumulates in the bloodstream. This condition can lead to significant health complications and death of affected infants. Early treatment with a specialized diet devoid of galactose will prevent this severe condition.
• Hemoglobin Disorders: Hemoglobin Disorders are genetic conditions affecting the structure and production of hemoglobin, the protein responsible for carrying oxygen in red blood cells. These disorders include sickle cell disease and thalassemia, which can cause anemia, organ damage, and other complications that require lifelong management and treatment.
• Metabolic Disorders: A neonatal screening can detect rare metabolic disorders, including amino acid, organic acid, and fatty acid oxidation defects. These disorders can be treated and managed with specialized care and diets.

It is important to remember that neonatal screening is not used to detect STDs (HIV, hepatitis B, and congenital syphilis) in newborns. However, if the mother has an active infection or the infant showed signs of infection during pregnancy scans, your baby’s healthcare provider may conduct screening for early detection.

What if neonatal screening results aren’t normal?

If your baby’s neonatal screening results are not normal, it may indicate an underlying issue. In such cases, your baby’s healthcare provider may recommend further diagnostic tests and evaluation to confirm the diagnosis. These additional tests may involve blood tests, genetic testing, imaging studies, or specialist consultations. Diagnostic tests can detect the specific health condition affecting your baby, allowing the healthcare provider to determine the best course of treatment or management.

Take Away

A neonatal screening test is crucial for every baby and parent. It helps identify potential health concerns in newborns that may not be visible at birth. By detecting disorders early on, your baby’s healthcare providers can intervene promptly, ensuring early treatment and reducing the impact on your baby’s well-being and development. Consult your healthcare provider if you want to learn more about the procedure or have concerns.