BAN, RN, BICLC
In the United States, routine newborn screening tests are an important part of infant care after birth. This vital public health program helps identify rare, but potentially serious, conditions that can impact long-term health outcomes in children.
All newborns in the country — approximately 4 million each year — receive access to the following routine screening after delivery:
Nurses should understand the basic components of newborn screening, as they’re often the ones carrying out the infant testing. They also help families make informed decisions and understand their baby’s test results. Health teams might also need to guide families as they access follow-up services and monitoring related to a child’s diagnosis.
In today’s world of varied child-rearing philosophies, one common thread exists: parents want the best for their children. In preparation for their new family member, families often spend months planning and researching, building a nursery, registering for supplies, and attending important prenatal appointments and educational programs. Families often also screen for certain genetic and developmental anomalies during prenatal testing to determine how to diagnose and manage complications before their baby is born.
Finally, that long-awaited day comes — the delivery is complete, recovery begins for the baby and birthing parent, known issues have been addressed, and everyone can recover and go home, right? Well, not so fast!
Each state recommends an important set of newborn testing that typically occurs before clearing babies for discharge. However, some parents may ask, “Didn’t we already do these tests while our baby was in the womb?”
The answer is that babies specifically receive this series of unique newborn screening tests after birth, commonly around the first day of life. These tests cannot be completed prenatally, as they generally screen for different things. While limited overlap may exist between prenatal genetic testing and newborn screening, post-birth screening is unique to newborns and strongly recommended. In addition, not all families receive the same level of prenatal testing.
Newborn screening makes a difference in the lives of infants. According to the American College of Obstetricians and Gynecologists (ACOG), approximately “one in every 300 babies are found to have a health condition identified by newborn screening.” The majority of these infants don’t have a family history of the disorder.
Most states use a one-screen model where a single round of newborn screening takes place 24-48 hours after birth. Currently, 13 states use the less common two-screen model, where a second round also takes place 1-2 weeks later at a healthcare provider’s office.
An organization called Baby’s First Test provides a helpful Newborn Screening Awareness Card for families.
By receiving the newborn screening blood spot, pulse oximetry, and hearing screenings shortly after birth, all babies can have the healthiest start to life possible.
The blood spot test screens infants for genetic, metabolic and hormonal disorders. Trained providers can carry out the test on babies born in the hospital, birthing centers, or at home.
Providers typically collect a small amount of the baby’s blood on several circles on an absorbent paper. The blood often comes from a small heel poke, which heals quickly.
Blood samples are then sent to a state laboratory, either in a vial or on the labeled absorbent paper. Results typically process within a week, after which families are informed of any positive test results. However, families should be encouraged to ask about their baby’s blood spot test at subsequent “well baby” visits.
This specific collection of newborn disorders in the blood test, while rare, can cause life-threatening symptoms if left untreated. Early detection is key to protecting infants from these preventable health problems. These disorders are considered hidden and cannot be diagnosed by a parent or healthcare provider simply looking at the baby.
Disorders included in the newborn screening blood test, with the first four being most common, include:
Certain portions of this blood test even measure how a baby processes elements of breast milk or formula. This makes the timing of the test crucial.
Each state uses national guidelines to create its own standardized list of newborn disorders to screen. The Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children (SACHDNC) recommends a core panel of more than 30 congenital disorders for testing, which is finalized by the Secretary of Health and Human Services. The current list of disorders can be viewed in the Recommended Uniform Screening Panel (RUSP).
Many states test for disorders beyond the core list, which changes over time with developing technology, research and lobbying or advocacy efforts. To find the specific disorders currently tested by each state, visit the Baby’s First Test website.
Another component of routine newborn screening includes the pulse oximetry test for critical congenital heart defects (CCHDs). Caregivers may refer to this test as the “CCHD” screen, which looks for a collection of cardiac problems where the heart does not form correctly.
The test is carried out by placing a small external sensor on the baby’s foot and hand. This probe painlessly measures the baby’s blood oxygen level. Babies with CCHDs often have low oxygenation in their blood. They may also have a discrepancy in oxygen levels between their hand and foot.
If a baby does not pass their initial pulse oximetry screen, it may be repeated. Some babies require further testing to assess the functioning of their heart and lungs. These exams might include an echocardiogram, electrocardiogram, or chest X-ray. A healthcare provider may need to explain these tests and any necessary follow-up.
However, the pulse oximetry screen does not identify all possible heart problems. A passing screen is simply a snapshot in time of the baby’s blood oxygen levels. Babies who develop concerning symptoms in the future — including difficulties with breathing, energy level or eating — should receive further medical assessment.
The final component of routine newborn screening involves a hearing test. This test uses earbuds or earphones to help identify infants with hearing loss. The hearing screen takes place at least 12 hours after delivery, usually within the first couple days of life.
All babies should be assessed for hearing loss soon after delivery, because the ability to hear is an incredibly important part of a baby’s development. It impacts how they learn sounds, speech, and language.
There are two types of tests used to complete the hearing screen:
The OAE test uses small earbuds to play sounds in the baby’s ear, then measures the ear’s response with a computer. The AABR test uses small adhesive sensors on the baby’s head and neck with cups placed over the ears; these cups help emit sounds and the skin sensors measure the baby’s response to the sound.
Both tests aim to detect if the baby is showing a diminished response to sound. If the initial hearing screen does not pass, it can be repeated. Babies who still do not pass in one or both ears should receive follow-up testing at their pediatrician clinic or an audiology specialist.
Causes of not passing, “referring” or “failing,” the newborn hearing screen can include:
If a newborn does not pass the hearing screen after delivery, families should be directly informed about the results and process for follow-up. However, this does not always mean a baby has hearing loss. Rather, families should be told that further testing is needed to verify the results. The CDC provides additional resources for families affected by hearing loss.
The CDC discusses an important “1-3-6” benchmark related to infant hearing screening. This benchmark lays out time-bound goals for Early Hearing Detection and Intervention (EHDI):
Learn more on the website for EHDI-PALS (Pediatric Audiology Links to Services), an online searchable directory of specialists. This organization helps both families and healthcare professionals find locations that provide audiological expertise or follow-up.
For many infants who have completed their routine newborn screening, that’s the end of the process. For some, however, the initial round of testing is just the beginning.
Around 13,000 infants each year receive a diagnosis as a result of their newborn screening. The care and treatment received may help prevent many of these infants from facing long-term disability or death.
Typically, families receive immediate results for the initial pulse oximetry and hearing tests, while the blood spot test typically takes about one week to process. Families should receive notification within a week from their child’s pediatrician about positive results — with “positive” meaning an out-of-range result or a possible disorder has been identified.
Some infants might require a delay in their initial round of newborn screening if, for example, there’s a clinical illness, significantly low birth weight, or prematurity.
Just remember, the initial newborn screening is not a diagnostic test; it can neither rule out nor confirm a disorder. In other words, not all infants who failed an initial screening have a condition. More tests may help confirm if a baby is truly affected.
Conversely, a passing result does not mean a newborn absolutely cannot have a disorder or develop one later in life. Families should still watch for developmental milestones or any concerning symptoms as their baby grows.
In the case of a confirmed diagnosis, pediatric clinics coordinate with families for referral to specialty providers. Through this process, infants can receive appropriate care and treatment for their diagnoses. For example, a genetics consultation may help determine next steps; geneticists can coach families about whether any future children may be impacted.
The CDC provides resources for families affected by diagnoses in the newborn screening panel. The Heath Resources & Services Administration (HSRA) also provides a helpful after-diagnosis reference page for families.
Parents generally have a right to decline their baby’s newborn screening. This process depends on each state of residence. Healthcare providers should always verify the policies of each state’s health department. Many states allow parental refusal of screening for any reason; some states only allow it for religious reasons; and several do not allow refusal at all. Families will most likely need to sign an official consent form to decline testing.
In addition, parents in certain states have the right to request their baby’s blood specimen or test results be destroyed after screening. Families typically also sign a consent form for this request. Each state has its own guidelines for how newborn screening results are stored or potentially used for future research.
Informed consent is key to ensuring families have all the information to make the best decision about their infant screening. Open conversations with the baby’s care team, including physicians and nurses, helps ensure adequate education and communication about testing.
As another consideration, all infants have access to newborn screening even if their families do not have insurance. View differences between states in cost and testing criteria on the HRSA website.
Finally, public health agencies aim to improve systems that track the progress of children over time as they grow. Initial diagnosis is only the first step; sometimes a child may require months, years, or even a lifetime of health management. Healthcare providers of all kinds can help promote this comprehensive and coordinated care.
By receiving treatment for the broad range of disorders in the newborn screening test, babies can have a chance at their highest achievable quality of life. Access to interventions, medications or dietary changes can often help prevent or diminish health problems caused by these disorders.
Medical professionals such as doctors, nurses, nursing assistants and other testing personnel play an important role in giving parents all the tools needed to make informed decisions about their baby’s testing and follow-up.
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