Newborn Screening for CCHD

Program to Enhance the Health & Development of Infants and Children (PEHDIC)

Newborn Screening: Critical Congenital Heart Defects

Answers and Resources for Primary Care Pediatricians

Approximately 18 out of every 10,000 babies are born with a critical congenital heart defect (CCHD). CCHD is life threatening and requires intervention in infancy. However, CCHD is not always detected prenatally or upon exam in the nursery. As a result, some infants with CCHD are discharged from the nursery to home, where they quickly decompensate. To improve the early detection of CCHD, the Secretary of Health and Human Services (HHS) recommended that CCHD screening be added to the uniform newborn screening panel.

Frequently Asked Questions

The following guidance, in question and answer format, was developed by a technical advisory panel comprised of experts representing various AAP entities with a broad range of CCHD expertise.

Topic 1: Rationale for CCHD Screening

How common is CCHD?

About three percent of all babies are born with a birth defect. Overall, nearly one percent of all newborns have a congenital heart defect (CHD). CHDs are the leading cause of birth defect-associated infant illness and death.

About 18 per 10,000 babies are born with critical congenital heart defects (CCHDs, also known as critical congenital heart disease), which are life threatening and require catheter-based intervention or heart surgery during the neonatal period. Delayed diagnosis of CCHD may result in the child having a poorer preoperative condition and worse cardiopulmonary and neurological outcomes after treatment.

Why is CCHD screening so prominent now? Is it really a good use of limited resources?

Studies from Europe and the United States have found that CCHD screening can be an effective way to detect serious health problems in otherwise well-appearing newborns. In addition to detecting CCHD, screening with pulse oximetry can detect other serious medical problems, including sepsis or pneumonia. As a result, the Secretary of Health and Human Services (HHS) recently recommended that screening for CCHD be added to the recommended uniform newborn screening panel.

As with any other screening test, CCHD screening is not perfect. Screening can sometimes miss cases or identify babies who do not have serious medical problems. However, work conducted by the Centers for Disease Control and Prevention have found that well-conducted, comprehensive, and coordinated CCHD screening programs have comparable cost-effectiveness to other recommended preventive services because of the ability to reduce morbidity and mortality. These Frequently Asked Questions were put together to help busy health care providers implement such screening.

Why is CCHD screening considered to be part of newborn screening?

Newborn screening is a public health program intended to ensure that all newborns be tested for specific conditions, regardless of where they are born and their insurability. The program began in the 1960s as a way to detect metabolic disorders using dried-blood spots. Today, nearly all newborn babies have a blood spot taken and sent to a centralized laboratory for evaluation. The goal of newborn screening is to identify conditions that are not associated with clinical signs or symptoms during the newborn period but that benefit from early detection. Each state determines which conditions are included in newborn screening.

Over the past decade, newborn screening has expanded to include screening for congenital hearing loss. This is the first example of a point-of-care newborn screening test. All states now include screening for congenital hearing loss as part of newborn screening.

Because early infancy intervention is essential for babies with CCHD, adding CCHD to newborn screening is an important strategy to assure that all newborns are screened. Some states now mandate that all newborns be screened by pulse oximetry for CCHD as part of newborn screening. The role of state health departments in supporting CCHD screening adoption and monitoring of screening rates and outcomes varies. Unlike other current newborn screening tests, the health care team should assure diagnostic, and when necessary, treatment services are provided to those babies with a failed CCHD screen prior to discharge home. It is also important for health care providers in states that have adopted CCHD newborn screening to be aware of the specific requirements and recommendations for screening and the reporting of results.

The AAP recommends that all newborns be screened for CCHD, regardless of whether they live in a state that includes CCHD screening within their newborn screening program.

If an asymptomatic infant fails their pulse-oximetry screening, what is the likelihood that CCHD or some other serious disease is present?

In the Swedish study on which the recommended pulse-oximetry screening protocol is based, 25% of babies with a failed screen had CCHD, 47% had another disease process such as pulmonary pathology or sepsis, and 28% were well. Published data from New Jersey demonstrates that in asymptomatic babies with a failed CCHD screen, 10% had CCHD, 23% had another disease process causing hypoxemia, and 67% had non-critical congenital heart defect or were well. The differences between these two studies may be in part related to age at screening and a much higher prenatal detection rate of CCHD in New Jersey than in Sweden. Overall, the false positive rate is very low. It is important to recognize that a baby with a failed screen can look completely well on exam but have a significant underlying medical problem.

Won’t CCHD be detected prenatally or by my exam in the nursery?

Maybe not. Prenatal ultrasounds can detect fewer than half of the cases of CCHD and predicting saturations based on visual examination of color is unreliable. Prior to discharge, some babies with CCHD will have normal exams and not appear cyanotic.

Often the ductus arteriosus does not close until after the baby goes home. Before closing, the ductus arteriosus may provide a significant amount of blood flow to the lungs or body. As a result, babies with CCHD can quickly decompensate when the ductus arteriosus closes. Pulse oximetry can accurately detect the lower oxygen saturations associated with CCHD with ductal-dependent systemic or pulmonary blood flow.

Topic 2: Implementation of CCHD

What CCHD screening algorithm should I use?

The AAP-endorsed CCHD screening algorithm should be used unless there is a recommendation in your state to use a different algorithm. A graphical presentation of the algorithm along with a detailed description is available on the Centers for Disease control and Prevention Website for the national Center for Birth Defects and Developmental Disabilities.

Screening should begin after 24 hours of age or shortly before discharge if the baby is less than 24 hours of age. Waiting until 24 hours of life will decrease the false-positive results. The screening should occur in the right hand and either foot. If using only one pulse oximeter, test one right after the other.

The baby passes screening if the oxygen saturation is 95% or greater in the right hand or foot and the difference is three percentage points or less between the right hand and foot. The screen is immediately failed if the oxygen saturation is less than 90% in the right hand and foot. If the oxygen saturation is greater than 90% and less than 95% in the right hand and foot, or there is more than a three percent difference between the right hand and foot, then repeat the screen in one hour and follow the same process as above. Rarely, some babies will require three screens (eg, the initial and two repeat screens, all separated by one hour). A baby whose oxygen saturation is from 90% to less than 95% in either the right hand and foot, or who has more than a three percent difference between the right hand and foot after the third screen, will be considered to have failed screening.

Which babies should be screened?

All newborns at risk for undetected CCHD should be screened. In other words, the only babies who do not need to be screened are those who are already known to have CCHD, such as those identified by prenatal ultrasound or who have already had an echocardiogram. The algorithm described above was developed primarily for healthy, full-term newborns. Please see Screening in Special Settings for information on premature infants, newborn infants who are sick or have other congenital malformations, or infants born at high elevation.

There are some very uncommon reasons that CCHD screening might not be done (eg, babies who have an echocardiogram prior to discharge to home from the nursery or babies who have such serious medical conditions that no intervention would be done if CCHD were identified). Some parents might also refuse CCHD screening. In that case, parents should be educated about the benefits of screening and, if they still refuse, the refusal should be documented in the medical record.

To avoid missing screening opportunities, plan to screen all newborns. Also, be aware of any state-specific rules, which may require that all newborns be screened.

Who should do the screening?

CCHD screening should be conducted by individuals who have pulse-oximetry testing within their scope of practice, who are trained in the use of pulse oximetry and the CCHD algorithm, and who regularly use pulse oximetry for other purposes. Ultimately, the health care provider of record for each newborn is responsible for assuring that screening was appropriately completed.

What pulse-oximetry equipment should I use?

Many pulse oximeters are currently available, and most hospitals have pulse oximeters already available. Only hospital-grade pulse oximeters designed for use in neonates should be used for CCHD screening. It is important that the probes used are designed for use in newborns and that the manufacturer specifically recommends them for the particular pulse oximeter you are using. Using reusable probes can decrease the overall cost of CCHD screening. In addition, using a device that provides a waveform can make it easier to tell when the pulse oximeter is appropriately tracking the oxygen saturation. Some pulse oximeters report a perfusion index. This is not currently used in the algorithm. Some device manufacturers are developing pulse oximeters with the CCHD screening algorithm embedded. This is not necessary, although it could help simplify the screening process.

How should I track screening completion and outcomes?

In addition to recording the screening results in patients’ charts, all birth centers should have a log to track the completion of screening and screening results. Many of the most effective logs are computer based. If it is not possible to have a log within the electronic medical record that you use, a simple one utilizing a spreadsheet can be sufficient. However, paper-based logs can be used if it is not possible to track screening electronically.

Using such logs is an important component of quality improvement to assure that all babies are appropriately screened. Elements to include in the log are: the baby’s unique identifier, the age of the baby when screened, the exact pulse-oximetry results, whether the screen was considered to be passed or failed, and, if failed, a description of the subsequent evaluation and final specific diagnosis (eg, normal, specific type of CCHD, or the other specific cause of the hypoxemia, such as sepsis or pneumonia). If necessary, why a baby was not screened should also be recorded (see CCHD Screening Data Collection and Management) . Because in the setting of a busy nursery it can be easy to misclassify a screening result as passed or failed, cutoffs for normal and abnormal should be included on the log and routine audits of the data should be performed.

Who will pay for the CCHD screening?

As of now, there does not appear to be a separate reimbursement available for CCHD screening. CCHD screening is therefore part of the bundled services that all newborns should receive. However, services provided after a failed CCHD screening (eg, echocardiograms) are typically reimbursed.

Developing strategies to efficiently administer CCHD screening can significantly reduce hospital costs. For example, use of reusable pulse-oximetry probes reduces the direct cost of screening. Bundling the screening with other care activities at the time of screening can reduce the staff time required to screen. Using log forms as described above can help balance work activities and patient flow in the newborn nursery to further improve efficiency.

Do I need to obtain consent from parents before screening?

CCHD screening is considered a part of routine newborn nursery care. Many birthing centers incorporate the consent for screening as part of the overall consent for managing the infant. Therefore, no specific consent is needed. However, informing parents ahead of time that the CCHD screening will occur can help decrease anxiety in the event of a failed screen. Communicating with parents is also an important component of public education, which can help increase support for CCHD screening.

What should I do after a failed screen?

After a failed screen, the first step is to examine the infant to make sure the baby is hemodynamically stable, and then begin the process of evaluation for hypoxemia. Depending on the status of the baby, this could involve evaluating for sepsis or pneumonia. Any signs or symptoms of congenital heart defect should prompt rapid evaluation, including potential urgent transfer to a center with advanced care capabilities.

If the baby is asymptomatic and otherwise well, with no obvious cause for hypoxemia, a cardiologist or neonatologist should be consulted and an echocardiogram should be performed. Newborns should not be discharged home until the underlying reason or hypoxemia has been identified or the hypoxemia has resolved. Remember, these babies will often appear normal and have no clinical findings other than the low oxygen saturation. Still, a careful and thorough evaluation is necessary.

What should I do if there are no pediatric cardiologists or pediatric echocardiography in my hospital?

Before starting any program to screen newborns for CCHD, plans should be made regarding the management of stable infants who have failed CCHD screening. This could range from echocardiogram by telemedicine or transferring to another center for further evaluation. Although babies may appear well at the time of the failed screen, those with CCHD may rapidly decompensate as the ductus arteriosus closes so follow-up on the failed screen should happen before a baby is discharged, rather than as a scheduled follow-up.

If this is newborn screening, what is the role of the public health department?

CCHD screening is a component of newborn screening. This means that the screening should be universal, for all newborns. Unlike blood-spot screening for metabolic conditions, CCHD screening is a point-of-care test. This means that all of the screening happens within the hospital. Unlike newborn hearing screening, another point-of-care newborn screening test, diagnostic follow-up for those with a failed screen must occur prior to discharge home. States have taken different approaches to CCHD newborn screening. Some mandate that the CCHD screening should be done, but leave implementation up to health care providers. Other states take a more active role, mandating how and when CCHD screening should occur or what data are reported to the health department.

Does a passing CCHD screen mean that there is no critical congenital heart defect?

The seven primary targets for CCHD screening are hypoplastic left heart syndrome, pulmonary atresia with intact ventricular septum, transposition of the great arteries, truncus arteriosus, tricuspid atresia, tetralogy of Fallot, and total anomalous pulmonary venous return. Screening can sometimes identify other forms of CHD.

As with any screening test, both false positives and false negatives can occur. The screening algorithm was developed to balance the harms of false positives (eg, worry to the family, unnecessary testing) against the harms of false negatives (eg, delayed detection of CCHD).

Health care providers should not consider a passed normal CCHD screen to mean that the baby does not have CCHD. The screen is not intended to replace current clinical care, but instead it should augment care to increase case detection. In addition, it is critical to remember that CCHD screening does not detect all cases of serious congenital heart defect. For example, coarctation of the aorta can be life threatening in early infancy, but may not be associated with hypoxemia.

Are there toolkits that can help me with implementation?

Several toolkits have been developed. The University of Wisconsin and Children’s National Medical Center have comprehensive toolkits, including provider and family educational material, available on the Internet.

Topic 3: CCHD Screening Data Collection and Management

Why is it important to collect and record CCHD screening data?

As with any other medical activity, screening results and any subsequent activity should be recorded in the child’s medical record. Tracking screening results helps with quality-assurance efforts, public health surveillance, and improving the process of CCHD screening overall.

Other than for direct medical care, how can screening results be used?

CCHD screening is a component of newborn screening. That means that all newborns should be appropriately screened. Therefore, all birthing facilities should have systems in place to regularly audit charts to assure that high-quality screening is routinely conducted. Missed screening or misclassified screening results should prompt a root-cause analysis to improve systems of care. If a missed screening has been identified, the baby’s primary care provider should be notified immediately.

Although CCHD screening has already been shown to improve health outcomes, it is likely that the screening algorithm will be modified over time to improve case detection and lower the false-positive rate. Therefore, many states and other agencies are collecting data on the process of screening and screening outcomes. Similar work is also being conducted to develop new approaches to improve care coordination after diagnosis through CCHD screening. It is important for health care providers to be good partners with these public health activities, including timely reporting of requested data, in order to assure that the CCHD screening programs meet the goal of efficiently decreasing morbidity and mortality associated with CCHD.

What Data Should Be Recorded?

At a minimum, the data recorded within the medical record should include those measures outlined in the recent Pediatrics article by Martin et al: the age of the baby at the time of screening; the specific values of each oximetry result, including the extremity from which it was obtained; and whether the screen was deemed a pass or fail. If the screening was not done, then the reasons should be documented. All subsequent activities related to a failed screen (eg, exam, echocardiogram) should also be documented. As described in the preceding section, documentation logs can be helpful in assuring that all newborns are appropriately screened. In addition, some health departments have specific requirements regarding the data to be reported (see Implementation of CCHD).

Topic 4: Screening in Special Settings

Should babies be screened in primary care offices if they were not screened in the nursery?

CCHD screening allows the detection of CCHD during the asymptomatic period prior to closure of the ductus arteriosus. The asymptomatic window for these infants is of variable duration and babies discharged with unrecognized CCHD often become symptomatic within the first two weeks after birth. Because CCHD screening can be performed in the primary care office, screening can be considered at the first newborn outpatient visit for those babies who were not screened. Pediatricians who opt to perform CCHD screening in the office should have a plan in place for further evaluation for infants who need repeat pulse-oximetry measurements or who have a failed screen. The focus of screening, however, should be in the newborn nursery to avoid the need for outpatient CCHD screening.

Should babies going home from the newborn nursery with supplemental oxygen be screened?

The screening algorithm has only been validated for babies on room air. In most cases, babies going home with supplemental oxygen will have had an echocardiogram as part of their in-hospital management. If they have had an echocardiogram, then screening is not necessary. Therefore, for babies going home with supplemental oxygen, an echocardiogram prior to release from the hospital can be used to screen for CCHD.

Should premature infants be screened?

Although premature infants usually have pulse-oximetry measured as a routine part of their management and are observed for longer periods than asymptomatic term infants, there is the possibility that some forms of CCHD may go undetected even in the NICU. Routine care in the NICU typically does not involve pre- and post-ductal oxygen saturation measurements, leading to the possibility of missing a case. In addition, the presence of lung disease and other illness makes the interpretation of saturation data much more complex in these infants and CCHD screening at 24 hours after birth is frequently often not possible.

For those infants who have not had echocardiography performed as part of their care, the CCHD screening protocol should be followed once they have been weaned from supplemental oxygen. CCHD screening does not need to be performed prior to discharge if the baby has already had an echocardiogram. Note that some state newborn screenings mandate that all infants undergo CCHD screening, regardless of prior receipt of an echocardiogram. This simplifies the process of making sure all newborns are tested. Please make sure to follow the rules in place covering your practice setting.

What should be done for full-term babies with systemic disease or congenital anomalies?

Infants with systemic disease or with congenital anomalies can fall through the cracks of the usual CCHD screening process as their care diverges from that of otherwise well babies. Missed screening can occur when a newborn is moved from the normal nursery to an intensive care setting or is transferred between institutions. CCHD screening should be performed prior to discharge home unless performed previously during the baby’s care. CCHD screening does not need to be performed prior to discharge if echocardiography has been performed as part of the infant’s care.

Should babies born at home be screened?

The AAP Policy Statement regarding Planned Home Birth recommends CCHD screening for planned home deliveries. The same CCHD screening protocol used for hospital births should be used in the home birth setting, keeping in mind that it is most reliable if performed 24 hours or more after birth. Those involved with home births should assure that any necessary repeat screening is done in a timely manner and that newborns with failed screenings have an expeditious evaluation for CCHD and other causes of hypoxemia.

Should I modify the screening algorithm if I am at high altitude?

The partial pressure of oxygen decreases with increasing elevation. As a result, children born at high altitude (eg, >800 meters) may have lower pulse-oximetry levels than those born at sea level. The CCHD screening algorithm was based on studies done near sea level. Therefore, there may be more false-positives among babies screened at high altitude. However, more research should be done before modifying the algorithm if you are at high level. Providers are encouraged to track data regarding all screening activity to help with any necessary revisions in the future.

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Newborn Screening for CCHD

​​​Program to Enhance the Health & Development of Infants and Children (PEHDIC)​

Newborn Screening: Critical Congenital Heart Defects

Answ​ers and Resources for Primary Care Pediatricians

Frequently Asked Questions

Topic 1: Rationale for CCHD Screening​

​​Topic 2: Implementation of CCHD​

​​​Topic 3: CCHD Screening Data Collection and Management​​​

​Topic 4: Screening in Special Settings​​​

​Ask a CCHD Implementation question​

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State Implementation

References

Related AAP Policy Statements