What Diseases Can Be Prevented by Newborn Screening?

What Is a Newborn Screening Test?

Newborn screening test identifies conditions that can affect your child's long-term health or survival. Your newborn can be submitted to tests to determine any disease that will be averted through early intervention.

How Is Newborn Screening Performed?

At first glance, most babies with serious health problems appear fine. The following newborn screenings can help you identify such disorders as soon as possible:

1. Blood Tests

Health screening for your infant includes blood tests drawing a few drops of blood from the heel. The blood is sent to a lab where it will be looked at.

2. A Hearing Test

Your newborn's hearing will be tested using two methods. Both procedures are safe, rapid, and done while the infant sleeps.

• Otoacoustic Emissions (OAE) test. - This test determines if your infant's inner ears react to sound. Sounds are played through a tiny earphone and microphone inserted discreetly. No microphone echo in the ear canal may indicate hearing loss.
  
  
• Auditory Brain Stem Response (ABR) Test evaluates the auditory brain stem and sound responsiveness. A tiny earphone is placed to play sounds, like the OAE test. Your newborn's brain may not respond to noises consistently, indicating a hearing issue.

3. Critical Congenital Heart Disease (CCHD) Screening

A small, soft sensor will be placed on your baby's skin and hooked up to an oximeter for a few minutes. The oximeter will check how much oxygen is in the hand and foot of the baby.

The newborn screening detects disorders such as:

• phenylketonuria (PKU)
• methylmalonic acidemia
• maple syrup urine disease (MSUD)
• galactosemia
• biotinidase deficiency
• cystic fibrosis
• congenital hypothyroidism
• congenital adrenal hyperplasia

Which Diseases Can Be Prevented Through Newborn Screening?

The screening of newborns can check for rare genetic abnormalities, hormone-related illnesses, and metabolic conditions that might cause significant health problems.

Early detection, diagnosis, and treatment can save your child's life or keep them from becoming disabled, letting them reach their full potential.

Here are some preventable newborn diseases.

1. Congenital Hearing Loss

Hearing loss at birth is referred to as congenital hearing loss, and it is among the most common chronic illnesses found in children. Early detection is possible because of screening programs for newborns' hearing in most developed nations.

It would be beneficial if you submit to the follow-up tests suggested as soon as possible before your baby turns three months old.

Early intervention will prevent delays in your child's speech and language development. It will have long-lasting beneficial consequences on your child's social and emotional development and the quality of life they will experience.

2. Critical Congenital Heart Defects (CCHD)

The newborn screening test list includes that which detects critical congenital heart defects (CCHD). Some babies with CCHD appear healthy, and their disease is often not discovered until they've gone home. With the help of newborn screening, your baby with CCHD can be found before they show any symptoms. 

Thankfully, early diagnosis will lead to the treatment of your child's CCHD and can assist in preventing death or disability.

If your child is born with CCHD, you could have it fixed with surgery. Among the types of pediatric heart surgery that can be performed are the following:

• Patent ductus arteriosus (PDA) ligation
• Repair of the narrowing of the aorta
• Atrial septal defect (ASD) repair
• Ventricular septal defect (VSD) repair

3. Congenital Hypothyroidism

Congenital hypothyroidism (CH) is described as a birth-present deficit in thyroid hormone. CH is caused when the thyroid gland fails to develop or function properly.

Hypothyroidism in newborns is rarely visible. Screening is crucial to prevent developmental delays and lifelong intellectual disability if your child is hypothyroidism-afflicted. The US requires screening with a simple blood test.

When your baby is born with congenital hypothyroidism and is not treated within the first year of life, it could cause permanent mental retardation. This can be avoided if detected early through the Expanded Newborn Screening and treated immediately with medicines.

4. Trifunctional Protein Deficiency (TFP)

TFP is a rare disease in children. If your infant doesn't have enough trifunctional protein, their body can't turn fats into energy, especially when hungry.

Fatty acids build up in the body when it can't turn fat into energy. Symptoms of TFP deficiency in children that you should carefully check include

• Drowsiness,
• Vomiting,
• Poor feeding,
• Problems with breathing.

Your child's physician or the state screening program will contact you to arrange for your infant to undergo further testing if the trifunctional protein deficiency (TFP) resulting from the newborn screening is outside the normal range.

If TFP is not treated, hypoglycemic occurrences can result in a coma or even death. However, early diagnosis and initiation of treatment can prevent some of the severe effects of TFP.

5. Biotinidase Deficiency

A hereditary (genetic) treatable disorder known as biotinidase deficiency makes the body incapable of properly metabolizing proteins, lipids, and carbs. This disease can also be detected when you avail of the health screening for infants.

Biotinidase deficiency can be either severe (called profound biotinidase deficiency) or mild (called partial biotinidase deficiency). How well biotinidase works in your baby's body determines its form.

The goal of treatment is to prevent health problems caused by this condition. It would be best for your child with biotinidase deficiency to receive early and continued treatment to experience normal growth and development.

6. Phenylketonuria (PKU)

A newborn screening diseases list includes PKU. Phenylketonuria (PKU) is a hereditary disorder in which your baby's body has trouble processing phenylalanine protein. It is typically caused by a phenylalanine hydroxylase deficiency resulting in severe mental impairment and neurobehavioral disorders.

This is a preventable and treatable metabolic disorder. Most children with the disease can be managed with newborn PKU testing and a Phe-restricted therapeutic diet during childhood. Studies have demonstrated that a higher percentage of neonatal screening and earlier treatment of your child can improve their prognosis.

Get in Touch With Our Pediatricians!

Suppose you search for a "children's clinic near me" or a "pediatrician in Houston, Texas," for your baby's newborn screening. In that case, AR Texas Pediatrics is your best pick.

Our top-notch doctors are gentle and skilled in providing newborn screening services to your infant. To schedule a consultation, please click here or contact 281-484-7619.