Newborn Screening: What It Is, What It Covers and Why It’s Important

Newborn Screening: What It Is, What It Covers and Why It’s Important
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Medically Reviewed By:
Mark Arredondo, M.D.

Bringing a newborn into the world is a whirlwind of emotions, from overwhelming joy to a hint of worry about your little one’s health. As a new or expecting parent, you want to ensure that your baby receives the best start in life. One crucial step in safeguarding your baby’s well-being is newborn screening. 

What is newborn screening?

Newborn screening, often referred to as the heel prick test or Guthrie test, is a routine test conducted shortly after birth to identify certain disorders that are treatable and may not be apparent at birth. If left untreated, these conditions could lead to severe health problems.

What does newborn screening test for?

Newborn screening typically covers a range of disorders, including: 

Although the U.S. Department of Health and Human Services (HHS) recommends a group of approximately 50 disorders to be screened, each state decides which disorders to include. You can visit babysfirsttest.org to find out which conditions are screened by your state.

How is newborn screening done?

The newborn screening process is simple and noninvasive. A healthcare professional will collect a small sample of blood from your baby’s heel, usually within 24-48 hours after birth. The blood is then sent to a laboratory for analysis. Your baby’s hearing will also be screened by checking how your baby responds to sound from earphones placed on the baby’s ears. Finally, a simple test called pulse oximetry is done to check for critical heart defects that lead to problems with oxygen delivery to the body. This is performed by placing a device called a pulse oximeter on the baby’s skin.

When do you get the results from newborn screening?

Some newborn screening results are available immediately, including the results from the hearing and heart disease screen. Other results typically become available within 5 to 7 days and are sent to the hospital where you delivered your baby and to your pediatrician. 

Oftentimes, parents won’t hear about the results if the screening test is normal. If a potential issue is detected, further testing may be necessary to confirm the diagnosis. The screening test is just a screen, and there are frequently false-positive results on the screening test. Additional testing is often required if the screening test is positive to determine if your baby really has the condition. Healthcare providers will guide you through the next steps and provide appropriate support and information.

Is newborn screening mandatory?

Newborn screening allows for early diagnosis and treatment and is therefore required by state law in the United States. There may be times when parents may refuse newborn screening, such as for religious objections, but very rarely do parents object since it is a test that helps the baby.

Why is newborn screening important?

Newborn screening is a vital screen in safeguarding your baby’s health and well-being. By identifying potential health concerns early on, it provides an opportunity for timely intervention and treatment, saving lives and preventing lifelong disabilities. 

As the chief of pediatrics at Boston Children’s Hospital, here’s why newborn screening is so important.

Early detection

Many of the conditions screened for in newborn screening may not manifest symptoms at birth, but they can have severe consequences if left untreated. Identifying these conditions early allows for prompt intervention and treatment, often before symptoms appear.

Preventing complications

Timely diagnosis and treatment can prevent or minimize the development of complications associated with certain disorders. For example, starting treatment for congenital hypothyroidism early can prevent developmental delays and other health issues.

Improving outcomes

By detecting and treating conditions early, newborn screening can significantly improve long-term outcomes for individuals who have the condition, allowing them to lead healthier lives.

Family planning

If a baby is diagnosed with a genetic disorder through newborn screening, it allows parents to make informed decisions about family planning and seek appropriate support and resources in considering future children.

As a new or expecting parent, be sure to discuss newborn screening with your healthcare provider and understand its importance in giving your baby the best start in life.

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