Newborn Screening Nursing CE Course

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Newborn Screening

Disclosure Statement

This activity aims to enable the learner to identify the most common disorders in the standard newborn screen and identify key issues encountered by healthcare professionals (HCPs) working with patients diagnosed with each disorder. It will also enable the learner to discuss the future of newborn screening, the necessary education, and the resources available to patients with these disorders and their families. Many people and roles care for newborns, infants, and children throughout their lifespan. This can include parents, co-parents, legal guardians, caregivers, and others. NursingCE uses the term parents generally to refer to multiple types of caregivers throughout this lesson.

At the end of this module, the learner should be able to:

• describe the most common disorders identified in newborn screening, including phenylketonuria, cystic fibrosis, congenital hypothyroidism, sickle cell disease, critical congenital heart disease, and hearing loss
• recognize the symptoms of the most commonly diagnosed disorders from the newborn screen
• explain the benefits of newborn screenings
• discuss the follow-up necessary for patients with positive screening results
• summarize the education that should be provided to families regarding the newborn screen

Overview

Newborn screenings began in the 1960s to identify certain congenital disorders and implement early interventions for those who screen positive. Many disorders tested for do not display physical signs or symptoms at birth. In the United States, 3.6 million babies were born in 2024, up 1% from 2023. Of these births, the US Department of Health and Human Services (HHS) reported a 98% participation rate in screening programs for genetic and early development disorders. While newborn screening is federally mandated, each state’s screening program varies somewhat in the disorders included in the panel. However, it is recommended by the Secretary of the Department of HHS and the American College of Medical Genetics and Genomics (ACMG) that every state include, at a minimum, the 39 core conditions contained in the Recommended Uniform Screening Panel (RUSP; refer to Table 1). In addition, there were 26 secondary conditions recognized in the RUSP as of July 2024. In most states, the standard newborn screening comprises at least a heel-stick, pulse oximetry reading, and hearing test. As a result of these screenings, 34 in 10,000, or 12,900 newborns a year, are found to have one of these conditions, allowing for early intervention, improved outcomes, and decreased long-term effects of delayed treatment. Of these conditions, the most common include hearing loss (17 per 10,000 live births), primary congenital hypothyroidism (CH; 6 per 10,000 live births), sickle cell disease (SCD; 5 per 10,000 live births), and cystic fibrosis (CF; 2 per 10,000 live births). This module will focus on some of the more common conditions screened for in the RUSP (Centers for Disease Control and Prevention [CDC], 2023, 2025; Ding & Han, 2022; Hamilton et al., 2025; Health Resources & Services Administration [HRSA], 2024; Kemper, 2024).

Table 1

Recommended Uniform Screening Panel (RUSP) Core Conditions

(HRSA, 2024; New England Genetics Collaborative [NEGC] and Children’s Hospital Boston, n.d.)

Heel-Stick Blood Test

A blood sample is required to complete the newborn screening for many disorders. In newborns, a capillary blood sample is obtained through a heel stick. Once the blood is obtained, it is transferred onto a special filter paper and sent to the designated laboratory for that area. It is recommended that samples be obtained at least 24 hours after birth and before being discharged from the healthcare facility. If the sample is obtained from an infant less than 24 hours old, the test may need to be repeated in 1-2 weeks. In some states, a second blood draw is done between 10 days and 2 weeks after the original blood draw to screen for false positives. Testing is delayed in infants born prematurely, those requiring intervention for illness, or those born at home (Dubay & Zach, 2023; Kemper, 2024).

Phenylketonuria

PKU is one of the core genetic disorders identified in newborn screening, accounting for 1 in 10,000-15,000 births in the United States. In this condition, the amino acid phenylalanine (Phe) found in protein cannot be digested by the affected individual due to a lack of the metabolizing enzyme in the liver, phenylalanine hydroxylase. This results in elevated levels of Phe in the blood. Unfortunately, infants with this condition typically do not show symptoms until they are several months old. If left unidentified and untreated, the condition leads to permanent intellectual disability with behavioral issues, delayed development, growth delay, microcephaly, seizures, or psychiatric illness. The Guthrie bacterial inhibition assay for Phe in the blood was developed by Dr. Robert Guthrie in 1960 to test for PKU. It was the original newborn screening test and is included in the current RUSP. The test is run from the blood obtained in the heel stick. In 1960, a reliable treatment protocol was also developed. Before this, PKU was not identified before symptoms appeared, and permanent brain damage with developmental delay had already occurred. Thus, the availability of newborn screening has drastically reduced observed symptoms of PKU, and the severe effects are rarely observed in the United States today (Bodamer, 2023; Ding & Han, 2022; HRSA, 2025; Kemper, 2024; Koch, n.d.; Matern, 2023; Medline Plus, n.d.; National Organization for Rare Disorders [NORD], 2024; Sacharow et al., 2024; Stone et al., 2023).

Treatment for PKU includes lifelong adherence to a Phe-restricted diet to maintain a Phe blood level between 120 and 360 µmol/L. A Phe-restricted diet includes abstaining from animal protein, most legumes, and nuts. Patients should also avoid aspartame, because it releases Phe when digested. In addition, individuals must limit their bread, pasta, and rice intake or consume only low-protein variations of those foods. People (infants and adults) with PKU also need to supplement their diet with amino acid–based, Phe-free formula or medical foods to maintain energy with adequate- protein, vitamins, and minerals while adhering to a Phe-restricted diet. To evaluate the effectiveness of dietary modifications, frequent monitoring of serum Phe and tyrosine levels is necessary (Bodamer, 2023; HHS, 2024; Stone et al., 2023).

Implications for Patient Care

HCPs who interact with the parents of patients newly diagnosed with PKU need to be aware of the various resources available for these patients, as external support is vital in maintaining the optimal health and wellness of chronically ill patients. The HCP should also be knowledgeable about the long-term effects of PKU and the potential impact such a diagnosis will have on the lives of the patient and their family. HCPs should stress the need for ongoing follow-up and management with a metabolic clinic. Current studies show that as little as 50% of patients with PKU are followed lifelong, even though consistent medical management of the condition and adherence to a Phe-restricted diet have been shown to limit the negative cognitive and neuropsychiatric effects. Resources for families of infants diagnosed with PKU include the NORD, Children’s PKU Network, National PKU Alliance, and National PKU News (Beazer et al., 2020; Bodamer, 2023; NORD, 2024; Sacharow et al., 2024; Stone et al., 2023).

Congenital Hypothyroidism

CH affects as many as 1 in 2,000 to 4,000 births annually in the United States and worldwide. It is one of the most common preventable causes of intellectual disability. This condition is caused by an underdeveloped, malfunctioning, or absent thyroid gland at birth. In contrast to developed thyroid disease, which manifests later in life, the effects of CH manifest themselves gradually over the first 6 weeks of life. This slight delay in symptom appearance after birth is due to maternal thyroxine hormone transfer. Treatment should start within the first 2 weeks of life to prevent developmental delay, making early detection essential for improved patient outcomes. CH affects phenotypically female infants twice as often as infants assigned male at birth for unknown reasons. Manifestations of CH include hypoactivity and somnolence, constipation, poor muscle tone, macroglossia (a thick, large tongue), swollen abdomen or outpouching of the umbilicus, and difficulty feeding. They may also exhibit large fontanelles, prolonged jaundice, and facial swelling (Bowden & Goldis, 2023; Connelly, 2025).

Just as in adults, CH is identified by testing for elevated levels of thyroid-stimulating hormone (TSH) in the blood, and as with PKU, this test is included in the RUSP and taken from the heel-stick blood draw. If this test is outside normal limits, the patient should be referred to a specialist, who may order additional tests to confirm the diagnosis. Confirmatory testing usually involves a total T4 and T3 resin uptake. CH is treated by medical supplementation of the thyroxine that the patient’s thyroid is not producing. Infants who start treatment within the first 2 weeks of life will develop as expected. However, regular follow-up with an endocrinology provider is necessary to ensure that the patient’s T4 and T3 stay within normal limits (ACMG, 2024; Bowden & Goldis, 2023; Connelly, 2023, 2025).

Implications for Patient Care

HCPs who work with infants diagnosed with CH should reassure parents that if their child is promptly treated, they will likely not have any permanent intellectual disability or developmental delay. Due to the time-sensitive nature of the treatment of CH, parents should be made aware of their infant’s results and assisted in making an appointment with a pediatric endocrinology specialist as soon as possible to obtain confirmatory testing and receive treatment quickly. Education should include that this disease will require lifelong medical management and that frequent follow-up visits will be necessary. Resources for parents of infants with CH include the American Thyroid Association and the MAGIC Foundation (ACMG, 2024; Bowden & Goldis, 2023; Connelly, 2023). Please refer to the NursingCE courses on Thyroid Dysfunction for more information.

Cystic Fibrosis

CF is an autosomal recessive genetic disorder that affects multiple body systems. It is caused by a mutation of the CF transmembrane conductance regulator (CFTR) gene on the long arm of chromosome 7. The CTFR gene codes a protein of 1,480 amino acids. CF affects approximately 1 in 5,000 live births in the United States, affecting 1 in 3,200 White Americans. The disease is significantly less common in other populations, occurring in only 1 in 10,000 Hispanic American, 1 in 15,000 Black American, and 1 in 30,000 Asian American live births. The test for CF is included in the RUSP (Katkin, 2024a, 2024b; Kemper, 2024; NORD, 2025; Yu et al., 2024).

CF is characterized by abnormalities in the glands responsible for producing saliva, sweat, and mucus. The effect CF has on the mucus glands leads to the production of abnormally thick and sticky mucus in the digestive and respiratory tracts. This disease can lead to permanent lung damage with frequent infections and contribute to a shorter-than-average life expectancy. CF can also cause pancreatic insufficiency, cirrhosis, and malabsorption due to excess mucus within the gastrointestinal and hepatic systems. Symptoms of CF in an infant include salty skin, frequent cough, wheezing, meconium ileus, and failure to thrive. The standard diagnostic test for CF is a sweat test that measures the amount of salt in the newborn’s sweat. In May 2005, the US Food and Drug Administration (FDA) approved the first blood test to detect CF. The US Cystic Fibrosis Foundation (CFF) updated testing recommendations in 2025. Currently, most states perform fixed immunoreactive trypsinogen (IRT) assays on a dried blood sample obtained using a heel stick. The CFF recommends using a floating IRT cutoff test instead due to a higher threshold of detection. A positive newborn screen for CF requires several confirmatory follow-up tests with a specialist. Unfortunately, unlike PKU or CH, the effects of CF cannot be circumvented by early diagnosis and treatment at this time but are associated with a longer, better quality of life in individuals with the disease. Advances in the treatment available for CF, coupled with earlier identification and interventions, have increased the average life expectancy of an affected patient from the early adolescence in the 1960s to over 65 years (in 2023; ACMG, n.d.; Katkin, 2024a, 2024b; McGarry et al., 2025; NORD, 2025; Simon, 2024; Yu et al., 2024).

Implications for Patient Care

HCPs who work with newborns and infants should be aware that not all gene variations that can cause CF are included in the newborn screen in every state. If an infant presents with symptoms indicative of CF (e.g., frequent lung infections, digestive problems, failure to thrive, wheezing), they should still be referred for a follow-up sweat test or genetic testing. HCPs must educate patients and their families on healthy lifestyle changes, treatments for CF, and the importance of routine follow-up care. HCPs should also be aware that there are many resources available for patients who have CF and their families, including the American Lung Association, the CFF, Cystic Fibrosis Research Inc, and the NORD, among others (Katkin, 2024a; National Heart, Lung, and Blood Institute [NHLBI], 2024a; Yu et al., 2024). Please refer to the NursingCE courses on Cystic Fibrosis for more information.

Sickle Cell Disease

SCD is an autosomal recessive genetic disorder that changes the body’s hemoglobin structure from the normal hemoglobin A (HbA) molecule, with two alpha and two beta amino acid chains, to the abnormal hemoglobin S (HbS) molecule, composed of abnormal beta chains. When red blood cells (RBCs) consisting of many HbS molecules are exposed to an area of low oxygen, the abnormal beta chains contract, causing them to change into a distorted, sickle shape. The CDC estimates that 1 in 13 infants born to Black American parents inherit the sickle cell trait and that 1 in 365 have SCD. It is estimated that 1 in 16,300 infants born to Hispanic American parents in the United States have SCD. It is the most inherited blood disease in the United States (Mangla et al., 2023; NHLBI, 2024b; Steinberg, 2024).

The malformed hemoglobin in individuals with SCD causes the affected patient’s RBCs to become fragile and break down faster than usual, resulting in anemia. Manifestations of SCD are varied and include jaundice, shortness of breath, fatigue, and delayed growth. Infants born with SCD may not show indications immediately. Long-term effects of SCD can range from mild to severe. Manifestations may also wax and wane with periods of extensive sickling leading to a crisis. The frequency of a crisis varies from every other week to annually. A crisis is often brought on due to hypoxemia. In addition, the rigid, sickle-shaped structure of the RBCs makes the cells sticky. This causes RBCs to clump together, blocking blood flow. This clumping puts patients with SCD at a higher risk of developing clots. Side effects of these clots can include severe pain, organ failure, pulmonary hypertension, priapism (extended penile erection), acute chest syndrome (ACS), or stroke, depending on the affected area. This disruption of blood flow is referred to as vaso-occlusive crises, which can be exacerbated by dehydration, pain, infection, or changes in the weather (Bender & Carlberg, 2025; Hollier, 2021; Rogers & Brashers, 2023; Steinberg, 2024; Vichinsky & Field, 2025).

Treatments for SCD are aimed at controlling potential triggers for vaso-occlusive crises, such as aggressively managing infection and hydration needs, and pain management. It is important to note that despite the guidance that opioids are not an appropriate treatment for chronic pain, vaso-occlusive crises are acute pain episodes, and there is significant evidence supporting the use of opioids during these periods. Blood transfusions and hydroxyurea (Hydrea, Droxia) are interventions available for the chronic management of SCD to prevent long-term effects. Blood transfusion is recommended in adults and children with SCD and symptomatic anemia or hemodynamic compromise. This includes ACS, stroke, acute multi-organ failure, or acute single-organ failure. Hydroxyurea (Hydrea, Droxia) has been shown to decrease the number of vaso-occlusive pain crises per year in patients with SCD and reduce the need for blood transfusions to manage acute issues such as ACS. It is approved by the FDA for use in children 9 months and older and has been shown to decrease complications and prolong life expectancy. L-glutamine (Endari) and crizanlizumab (Adakveo) are other FDA-approved disease-modifying medications used in the treatment of SCD. In 2019, the FDA-approved voxelotor (Oxbryta) to treat SCD, but it was removed from the market in September 2024 due to a poor risk-benefit ratio. A hematopoietic stem cell transplant (HSCT) is currently the only cure for SCD. This procedure is used only for patients with severe SCD with complications such as stroke, recurrent pain crises, nephropathy, retinopathy, priapism, and osteonecrosis of multiple joints. HSCT is not available to all patients diagnosed with SCD as it comes with significant risks, including graft versus host disease and death (Ashorobi et al., 2023; CDC, 2024; DeBaun & Chou, 2025; Hollier, 2021; NHLBI, 2024a; Rodgers et al., 2025; Rogers & Brashers, 2023; UpToDate Lexidrug, n.d.; Vichinsky, 2025).

Implications for Patient Care

HCPs who work with newborns diagnosed with SCD need to be able to educate parents on the signs and symptoms of vaso-occlusive crises. Manifestations of SCD in the infant can include swelling in the hands or feet or nonverbal signs of pain such as excessive crying. Parents must be educated that their child will need regular, lifelong follow-ups with a specialist. Extensive evaluations by specialists may include annual transcranial Doppler measurements and screenings for blood pressure, neurocognitive dysfunction, retinopathy, pulmonary hypertension, kidney disease, hepatitis C, depression and stress, bone health, growth, and end-organ dysfunction. Children with SCD need more aggressive infection and fever management than other children. Prophylactic penicillin V potassium (Pen-VK) is recommended for patients who have SCD from three months until age five. It is also essential that these children receive their regularly scheduled childhood vaccines to prevent illness. They will also need to be educated on the importance of their child staying hydrated and avoiding physical exhaustion, high altitudes, and extreme temperatures to prevent symptoms and complications. Early identification of the disease with the appropriate education and management reduces the rate of chronic complications. Resources available for parents of patients with SCD include the American Sickle Cell Anemia Association, the Sickle Cell Disease Association of America, the NORD, and the Sickle Cell Information Center (Bender & Carlberg, 2025; Field & Vichinsky, 2025; Hollier, 2021; Mangla et al., 2023; Rogers & Brashers, 2023).

Pulse Oximetry

Pulse oximetry screening (POS) in newborns is noninvasive and can be done at the bedside on room air. It uses light to calculate the percentage of hemoglobin bound to oxygen within the blood. The pulse oximeter is placed onto the newborn (on the foot or hand), and the oxygen saturation of the blood is measured. Low oxygen saturation can be a sign of critical congenital heart disease (CCHD). The addition of POS to newborn testing was recommended by the American Academy of Pediatrics (AAP) in 2011. States that have mandated this screening have reduced early infant cardiac deaths by 33% (CDC, 2025; Dubay & Zach, 2023; Hom et al., 2024; Oster, 2025).

Critical Congenital Heart Disease

CCHD is a collection of structural abnormalities in the heart that are present at birth and require surgical or catheter-based intervention in the first year of life. CCHD is the most common type of congenital disability, affecting 1 to 3 per 1000 live births, and is responsible for at least 30% of all infant deaths secondary to congenital disabilities. CCHD is classified as either cyanotic, ductal-dependent, or noncyanotic. The most common cyanotic CCHDs are tetralogy of Fallot (TOF) and D-transposition of the great arteries (D-TGA). Coarctation of the aorta (COA) is the most common noncyanotic CCHD. The most common overall CHDs are ventricular septal defects (VSDs), but they are rarely categorized as critical unless very large. Infants who have CCHD may present with tachypnea, cyanosis, abnormal heartbeat, and low blood pressure. Undiagnosed CCHD can lead to sudden cardiac arrest, stroke, abnormal heart rhythms, heart failure, or premature death; however, with early pediatric cardiology referral for surgical or catheter-based intervention, most patients with CCHD now survive infancy and lead typical lives. Resources for parents of infants and children with CCHD are varied and depend on the specific type of heart defect present (Altman, 2024; Hom et al., 2024; Oster, 2025).

Some heart defects are diagnosed during pregnancy with a fetal echocardiogram; however, others are not identified until after birth. These defects can often be identified by a lower-than-normal reading on the pulse oximetry portion of the newborn screening. The pulse oximetry portion of the newborn screening is considered normal if, on room air, oxygen saturation levels are greater than 95% in the right hand or either foot, with less than a 3% difference between the right hand or either foot. Measurements should not be obtained from the left hand, as the oxygenation of the left hand is not affected by the arterial duct. The test is considered abnormal if any oxygen saturation level is below 90% or if oxygen saturation levels are below 95% in the right hand or foot for two tests administered more than an hour apart. The test is also considered abnormal if the difference in oxygen saturation between the right hand and foot is greater than 3% on two separate occasions. Other noncardiac conditions that can cause a failed POS include sepsis, pneumonia, transient tachypnea of the newborn, respiratory distress syndrome, persistent pulmonary hypertension, meconium aspiration syndrome, or pneumothorax (Altman, 2024; CDC, 2025; Hom et al., 2024; Oster, 2025).

Implications for Patient Care

HCPs who work with newborns and infants should be aware that POS is most effective when done at least 24 hours after birth. Thus, if a patient is discharged within 24 hours of delivery, the screening should be done as late as possible or completed at a follow-up office visit. HCPs should also be aware that an abnormal or failed reading on the POS does not necessarily indicate that an infant has CCHD. The patient will need further testing and follow-up to determine the cause of the low oxygen saturation. Additional testing for CCHD usually includes an echocardiogram after other causes of hypoxemia, such as respiratory obstruction, have been ruled out. Parents of children diagnosed with CCHD should be counseled that, with the proper interventional surgery, catheter-based intervention, or series of interventions, most patients go on to lead typical lives (Altman, 2024; CDC, 2025; Oster, 2025).

Hearing Test

The hearing test portion of the newborn screening is administered as either one or two tests. The two available tests are the automated auditory brainstem response (AABR) test and the otoacoustic emissions (OAE) test. The AABR test uses a device placed over one ear at a time and emits a chirp. The device then measures brainstem responses to the stimuli. The OAE measures the eardrum’s response to stimuli via waveform technology. There is evidence to suggest that the usage of both tests for screening is associated with fewer false positives (American Speech-Language-Hearing Association [ASHA], n.d.; Vohr, 2023).

Hearing Loss

It is estimated that 1 to 3 in every 1,000 births in the United States are affected by partial hearing loss or deafness. The permanent bilateral hearing loss rate in the United States is 1.7 per 1,000 live births. Screening for hearing loss should be completed more than 24 hours after delivery to reduce the rate of false positives. The hearing test should be administered more than 48 hours after birth for infants born via cesarean section due to failures resulting from fluid remaining in the middle ear. An established early hearing detection and intervention program (EHDI) is present in every state and territory in the United States (Vohr, 2023). The goals of EHDIs are:

• Hearing screening by 1 month of age, identification of every child born with a permanent hearing loss by 3 months of age, and referral services for timely and appropriate interventions by 6 months of age
• Culturally competent family support for all families of infants with hearing loss
• Establishment of a “medical home” for all newborns
• Effective linking of newborn hearing screening results into tracking and data management systems and public health information systems (ASHA, n.d.).

Newborns who require transfer to the neonatal intensive care unit should be screened once they are medically stable but before 1 month of age. Infants who fail the initial hearing test must be referred to an audiologist for confirmatory testing and intervention. Before the 1993 National Institutes of Health (NIH) recommendation, only infants considered high-risk for hearing loss were screened, resulting in nearly 50% of infants with hearing loss remaining undetected until they were old enough to demonstrate symptoms. Universal mandatory newborn hearing testing was instituted after studies showed that intervention before 6 months was associated with higher verbal skills and more typical developmental patterns. Research also showed a reduction in healthcare and special education spending compared to those who received a diagnosis and intervention after 6 months. Early intervention for children with hearing loss is available in various forms, including adaptive devices (e.g., hearing aids, cochlear implants, or other assistive listening devices), therapies, and support groups. (ASHA, n.d.; National Center for Hearing Assessment and Management [NCHAM], n.d.; NIH, 1993; Smith & Gooi, 2025; Vohr, 2023).

Implications for Patient Care

HCPs who work with infants who have an abnormal hearing screen should be aware that at this time, approximately 25%-30% of infants with a positive test are lost to follow-up (LTF). While this is a significant improvement over the 50% LTF in 2018, it still represents an unacceptable number of infants. The care team must educate parents about the benefits of early intervention for hearing loss and provide the appropriate resources available in their area. Comprehensive care should be provided by a multidisciplinary team that may consist of audiologists, otolaryngologists, speech pathologists, geneticists, and education specialists. HCPs working with children should also know that not all hearing loss is present at birth. If a child is exhibiting signs of hearing loss, they should be referred for testing, especially if the child was born outside of the United States or has not had their routine vaccinations, as several preventable diseases, such as rubella, can cause acquired hearing loss. Resources available for parents of infants and children who have hearing loss include MyDeafChild.org and the Chicago Hearing Society, among others (ASHA, n.d.; NCHAM, n.d.; Smith & Gooi, 2025; Vohr, 2023).

General Implications Regarding the Newborn Screen

There is solid evidence that all aspects of the newborn screen are vital for early diagnosis and intervention for children born with a congenital disease. Participation in newborn screening is widespread across the United States, partially due to laws mandating participation. This means that hospitals are required to perform the newborn screen and that parental consent is unnecessary. Most states allow for refusal based on religious beliefs, except for Nebraska, which registered the refusal of participation as child neglect in a lawsuit. This allowance for refusal does present the risk of missed diagnosis, albeit in a small subset of the population. Parents should be educated that the risks associated with newborn screening are minimal from the heel-stick and false-positive tests, while the risks associated with a missed diagnosis could be life-threatening. There are 12 false-positive tests for every confirmed positive test, and reassurance should be given to parents that most retests do not indicate a confirmed disorder. There is a rising concern among some parents regarding saving the dried blood from the newborn screen for further testing and research, such as genome sequencing. As a result of related lawsuits, storage banks in Minnesota were destroyed in 2012, and other states, such as Texas, New Jersey, and Delaware, have been mandated to destroy blood spots on parental request or after a specific amount of time (e.g., two or three years). Parents should be made aware of the policies present at their facility regarding saving blood samples and should be allowed to opt out of the storage of their infant’s heel-stick card if they desire. Note that this is an evolving field of medical ethics, and HCPs working with infants who have undergone screening should be aware of both their state’s and facility’s policies and procedures regarding obtaining and storage of these tests (Anderson et al., 2011; del Greco, 2024; Dubay & Zach, 2023; Howell, 2021; NEGC and Children’s Hospital Boston, n.d.).

An overarching concern regarding newborn screening is the lack of education for parents. Despite mandatory testing, there is no standardized compulsory education. Parents should be educated on false-positive results, positive results, that the cost of testing is covered, and any special considerations, such as testing in a premature or critically ill newborn. Some studies show parents of infants expressed confusion and distress on receiving abnormal test results, as they could not remember ever having received education regarding the testing. The AAP Task Force on Newborn Screening is working to correct this educational gap. There has been resistance to presenting newborn screening education during pregnancy due to the overwhelming amount of education already provided at prenatal visits. There is also concern that educating parents immediately after birth is not the most effective measure, as this can be a period of stress and fatigue. Parents report that they may have remembered the information if the importance of the test was stressed verbally prenatally and reinforced after birth. In general, HCPs should be aware that pregnant patients and parents of newborns would likely benefit from verbal reinforcement or further explanation of the testing, even if a pamphlet or brochure has been provided. Parents typically receive many written materials during prenatal visits. The HCPs should also be aware of evidence to support the delivery of newborn education via multiple forms of media (Dubay & Zach, 2023; Kemper, 2024; NEGC and Children’s Hospital Boston, n.d.).

Future directions for newborn screening include:

• targeting of high-risk conditions based on regional findings
• improvement in techniques for testing and knowledge base, expanding the panel of disorders that can be detected
• storage and archival of dried blood spots to utilize for epidemiological research
• prenatal screening advancements (which, in turn, decrease the need for some tests in the newborn screening; Kemper, 2024)

Ethical and legal considerations must be kept at the forefront as advancements are made in newborn screening. The following resources are available to help HCPs and parents as they navigate the newborn screening process: The ACMG, the CDC, the International Society of Neonatal Screening, and Save Babies Through Screening (Kemper, 2024).

References

Altman, C. A. (2024). Evaluation of suspected critical congenital heart disease (CHD) in the newborn. UpToDate. Retrieved May 7, 2025, from https://www.uptodate.com/contents/evaluation-of-suspected-critical-congenital-heart-disease-chd-in-the-newborn

American College of Medical Genetics. (n.d.). ACT sheets and algorithms. Retrieved May 6, 2025, from https://www.acmg.net/ACMG/Medical-Genetics-Practice-Resources/ACT_Sheets_and_Algorithms.aspx

American College of Medical Genetics. (2024). Newborn screening ACT sheet [elevated thyroid stimulating hormone (TSH) with or without low thyroxine (T4) level]. https://www.acmg.net/PDFLibrary/Primary-TSH-ACT-Sheet.pdf

American Speech-Language-Hearing Association. (n.d.). Newborn hearing screening. Retrieved May 6, 2025, from https://www.asha.org/practice-portal/professional-issues/newborn-hearing-screening

Anderson, R., Rothwell, E., & Botkin, J. R. (2011). Newborn screening: Ethical, legal, and social implications. Annual Review of Nursing Research, 29, 113–132. https://doi.org/10.1891/0739-6686.29.113

Ashorobi, D., Naha, K., & Bhatt, R. (2023). Hematopoietic stem cell transplantation in sickle cell disease. StatPearls [Internet]. https://www.ncbi.nlm.nih.gov/books/NBK538515/

Beazer, J., Breck, J., Eggerding, C., Gordon, P., Hacker, S., Thompson, A., & PKU Lost to Follow-Up Recommendations Group (2020). Strategies to engage lost to follow-up patients with phenylketonuria in the United States: Best practice recommendations. Molecular Genetics and Metabolism Reports, 23, 100571. https://doi.org/10.1016/j.ymgmr.2020.100571

Bender, M. A., & Carlberg, K. (2025). Sickle cell disease. GeneReviews [Internet]. https://www.ncbi.nlm.nih.gov/books/NBK1377/

Bodamer, O. (2023). Overview of phenylketonuria. UpToDate. Retrieved May 6, 2025, from https://www.uptodate.com/contents/overview-of-phenylketonuria

Bowden, S. A., & Goldis, M. (2023). Congenital hypothyroidism. StatPearls [Internet]. https://www.ncbi.nlm.nih.gov/books/NBK558913/

Centers for Disease Control and Prevention. (2023). 2022 annual summary report, newborn screening quality assurance program. https://www.cdc.gov/newborn-screening/media/pdfs/2024/05/NSQAP-Annual-Summary-2022-508_1.pdf

Centers for Disease Control and Prevention. (2024). Prevention and treatment of SCD complications. https://www.cdc.gov/sickle-cell/about/prevention-and-treatment.html

Centers for Disease Control and Prevention. (2025). Clinical screening and diagnosis for critical congenital heart defects. https://www.cdc.gov/heart-defects/hcp/screening/?CDC_AAref_Val=https://www.cdc.gov/ncbddd/heartdefects/hcp.html

Connelly, K. (2023). Treatment and prognosis of congenital hypothyroidism. UpToDate. Retrieved May 6, 2025, from https://www.uptodate.com/contents/treatment-and-prognosis-of-congenital-hypothyroidism

Connelly, K. (2025). Clinical features and detection of congenital hypothyroidism. UpToDate. Retrieved May 6, 2025, from https://www.uptodate.com/contents/clinical-features-and-detection-of-congenital-hypothyroidism

DeBaun, M. R., & Chou, S. T. (2025). Red blood cell transfusion in sickle cell disease: Indications, RBC matching, and modifications. UpToDate. Retrieved May 7, 2025, from https://www.uptodate.com/contents/red-blood-cell-transfusion-in-sickle-cell-disease-indications-rbc-matching-and-modifications

del Greco, C. (2024). Establish data standards to protect newborn DNA privacy by developing data storage standards for newborn screening samples. Federation of American Scientists. https://fas.org/publication/protecting-newborn-dna-privacy/

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