Newborn Screening Tests

Newborn Screening Tests

Having a baby is an exciting time. It also can be hectic and overwhelming. In particular, there is a lot going on in the first hours and days of their life. Your newborn will go through several types of screening tests at the hospital. The purpose of newborn screening is to find and treat certain health issues that are not always visible at birth. Early detection can help prevent or reduce the effects of these conditions.

Path to improved health

Before delivery, you should learn all the facts of newborn screening. In the United States, newborn screening programs vary by state. Each state decides what screenings to cover and what disorders or conditions to include in testing. The state bases their program on several factors, including:

  • Costs for newborn screening can vary by state.
  • Newborn screening only receives a portion of state resources, or funds.
  • Availability for certain conditions can vary by state.
  • Some conditions are less likely to occur in some states due to varied populations.

Even though some screenings are considered mandatory, you can refuse them. Talk to your doctor and hospital to know exactly when the screenings occur and how you will get the results. You also should check with them to see if your baby needs additional testing.

Screening for Apgar score

The first test your newborn will receive is the Agpar test. The doctor or nurse will complete this in the delivery room at the hospital. They usually test within 1 minute of birth, and again at 5 minutes. Based on those scores, they might test a third time at 10 minutes.

The Agpar test is named after Virgina Agpar, who created it in the 1950s. It also is an acronym for the test’s measures. Your doctor or nurse will check 5 areas of your newborn baby’s health. They score each area based on a scale of 0 to 2. A score of 2 is the highest and a score of 0 is the lowest. The 5 areas and ranges are:

  • A Your baby’s skin color can range from pink to bluish-gray.
  • P Your baby’s heart rate can be above 100 beats per minute (strong), below 100 beats per minute (fair), or absent.
  • G This checks your baby’s facial and physical reflexes.
  • A This checks your baby’s muscle tone.
  • R This checks your baby’s breathing. The rate and effort can range from normal to slow to absent.

The total possible Apgar score is 10. It is very uncommon to get 10, at least on the first try. It takes most babies several minutes to warm up, regulate their breathing, and adjust to their new settings. A score of 7 or more is good. A score less than 7 means your baby might require additional care. They might need simple oxygen or heat. Most babies are healthy after Apgar testing.

Premature babies can have lower Apgar scores. If your baby still scores low after several tests, hospital staff will begin treatment. They will monitor your baby closely for changes. Your doctor will order testing to identify possible health conditions or disorders.

Screening for metabolic disorders

Babies can be born with metabolic disorders. These affect their ability to create and process nutrients and energy. This type of genetic disorders can range from mild or moderate to severe. The effects can cause physical and mental issues, possibly even death.

Some metabolic disorders that are commonly screened for are listed below. Currently, the U.S. Preventive Services Task Force (USPSTF) recommends screening newborns for the first 4 disorders.

  • Phenylketonuria (PKU)
  • Congenital hypothyroidism
  • Sickle cell disease
  • Cystic fibrosis
  • Medium chain acyl CoA dehydrogenase deficiency (MCADD)
  • Toxoplasmosis
  • Biotinidase deficiency
  • Maple syrup urine disease (MSUD)

Metabolic disorders typically are not visible upon birth. PKU was the first metabolic disorder that doctors screened for in the 1960s. The test later became mandatory. This is because PKU can be life threatening and treatment is proven effective. Although PKU can be tested separately, it now is done as part of a larger blood test. This is called a tandem mass spectrometry (MS/MS).

Your doctor or nurse will perform the blood test when your baby is about 24 hours old. They will prick your baby’s heel to collect a few drops of blood. The blood gets sent to a lab to screen for metabolic disorders. The specific disorders it tests for vary by state. You can decide what disorders to include in your baby’s screening. Some of them may have added costs.

Most labs process the blood test within several days and send results to the doctor. Follow up with your doctor if you don’t hear back. Review the results with your doctor in person, if possible. Make sure you understand all the results before you leave.

If your baby is diagnosed with a metabolic disorder, talk to your doctor about options. Some disorders have proven treatment programs to help prevent or reduce symptoms. These can include restricted diets, supplements, and lifestyle changes. Another option is to monitor your baby’s condition for symptoms and changes.

Screening for hearing issues

The USPSTF recommends that all newborns have an initial hearing screening prior to 1 month of age. This common test detects genetic hearing loss before symptoms begin. It can also detect hearing loss that can occur due to issues such as infections during pregnancy or childbirth. Early detection and treatment can reduce effects of hearing loss and improve outcomes. The newborn hearing screening is proven to be accurate and valuable. It is quick and painless, and often done when your baby is sleeping. If your baby fails the first screening, your doctor should order a follow-up test prior to 3 months of age.

The type of treatment depends on the severity of hearing loss. Your doctor might decide to monitor your baby. Your child can have regular tests with an ear doctor (audiologist). This can keep track of your child’s state and if their hearing improves or declines.

Treatment also can include a hearing device (such as an aid or implant) or surgery. Hearing loss can cause other health issues with speech, reaction, and social skills. They could need therapy, counseling, or other medical care to treat these symptoms. Babies with certain health conditions, head trauma, or a family history of hearing loss are at higher risk.

Screening for critical congenital heart defects

There is one more type of screening your newborn should receive before going home. Your doctor or nurse should screen for critical congenital heart defects (critical CHDs). This test is called pulse oximetry. It checks your baby’s oxygen level.

Most, but not all, states mandate critical CHD screening. Ask your doctor or hospital if this is routine or can be added. This screening is valuable to diagnose and treat critical CHDs early. Babies who are not screened are at greater risk. They could have unknown heart problems that lead to death.

It is more safe and cost effective to screen and treat critical CHDs in advance. Otherwise, your baby could have severe symptoms and need to go back to the hospital. Failing the screening does not mean your baby has a critical CHD. Their oxygen level could be low due to another problem. Your doctor will order additional tests to confirm and treat the health issue.

Things to consider

There are benefits and risks to newborn screening tests. In general, screening is recommended for health issues where early detection and treatment have proven health outcomes.

Some screening can cause needless worry or concern. Keep in mind that screening is only the first stage of diagnosis. Try not to panic if initial results are positive. It is common to ask for repeat testing. This can identify false positive tests (show positive but actually are negative) and false negative tests (show negative but actually are positive). Further testing will be done to confirm a disorder or condition. Talk to your doctor about all options.

The MS/MS test for metabolic disorder screening is fairly new. Care programs for all of these conditions have not been fully researched, tested, and proven. The full benefits and risks of treatment before symptoms occur are unknown.

It is best that you talk to your doctor and educate yourself. Then you can make an informed choice on what screening you should do for your baby. This should be done prior to your delivery and hospital stay. Newborn screening does require your approval. You can choose to decline certain screenings or tests.

When to see your doctor

After leaving the hospital, observe your baby for any signs of health issues. If at any point your child shows symptoms (listed below), contact your doctor or 911 right away. Babies also have physical and mental milestones as they grow. Check with your doctor to ensure your child is meeting these.

Signs of metabolic disorders include:

  • Vomiting or poor appetite
  • Shortness of breath
  • Difficulty gaining weight or weight loss
  • Sudden lack of movement, energy, or alertness.

Signs for critical CHDs include:

  • Pale or bluish skin, lips, or fingernails
  • Trouble with breathing
  • Increased or decreased heart rate
  • Swollen or puffy, especially in face, hands, legs, or feet
  • Abnormal sweating
  • Poor appetite
  • Overly tired.

Even if your baby passed their initial hearing screen, they still could develop hearing problems. This is known as acquired or progressive loss. Symptoms of hearing loss include:

  • Doesn’t respond to loud noises
  • Responds to sight but not sound
  • Hears some sound tones but not others
  • Doesn’t talk or make much noise
  • Slurred or mumbled speech
  • Hard time following directions
  • Asks you to repeat often
  • Listens to noise at a high volume.

Questions to ask your doctor

  • Why does my newborn baby need screening tests?
  • What are the risks of newborn screening?
  • Should I get additional screening for my baby?
  • What happens if my baby’s screening tests are positive?
  • If my baby has a disorder or hearing loss, will my future children have it too?

Resources

Baby’s First Step, Newborn Screening by State

Centers for Disease Control and Prevention, Developmental Milestones

U.S. Preventive Services Task Force, Expanding Newborn Screening: Process, Policy, and Priorities