Newborn Screening for Congenital Heart Disease: Challenges and Solutions

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Although the US government has provided some funding for critical congenital heart disease programs, limited funding is a challenge.
Although the US government has provided some funding for critical congenital heart disease programs, limited funding is a challenge.

The US Centers for Disease Control and Prevention (CDC) recently held a Public Health Grand Rounds on the benefits and unique challenges—as well as potential solutions—of newborn screening for critical congenital heart disease (CCHD).1

Since the 1960s, bloodspot testing has been used to screen newborns for severe medical conditions that may not have clinical symptoms at birth. In 2011, newborn screening expanded to include testing to identify newborns with CCHD, such as Ebstein anomaly, who may benefit from potentially life-saving intervention.1

Early detection of CCHD is important given its high mortality rate. One study showed that prior to 2005, the 1-year infant mortality rate from CCHD was 18%.2 The incidence of congenital heart defects is approximately 2 to 3 per 1000 live births, and one-quarter of these have CCHD.1,2 Stuart K. Shapira, MD, PhD, of the National Center on Birth Defects and Developmental Disabilities at the CDC, noted that many infants with CCHD are identified prior to newborns screening via echocardiogram performed for clinical signs such as a heart murmur. “Therefore, the estimated newborn population with CCHD potentially detectable by newborn screening is about 4 per 10,000,” he said.1

CCHD screening, however, is not amenable to bloodspot testing and must be performed at the point of care. To screen for CCHD, a pulse oximeter is placed on the right hand and one foot. Normal values for oxygen saturation are defined as a range from 95% to 100% and a difference of no more than 3% between the hand and foot. An algorithm is then used to determine if the infant requires repeat screening or diagnostic testing. Although this screening protocol is designed to detect CCHD, other non-CCHD or non-cardiac conditions may be identified that also benefit from early intervention, such as sepsis and pneumonia.

Screening for conditions at the point of care presents unique challenges for data collection and reporting. With bloodspot screening, the birthing facility sends the sample to a centralized newborn screening laboratory. After processing the sample, the laboratory reports the results to the state health department, which then enacts appropriate follow-up. In contrast, point-of-care screening is performed at one of thousands of birthing facilities, each of which is responsible for tracking the number of infants screened, reporting the results to the state Department of Health (DOH), and referring newborns who do not pass the screen for further diagnostic testing.1

When a newborn does not pass CCHD screening, the next step is an immediate referral for an echocardiogram. “One challenge for CCHD screening is that many birthing facilities do not have on-site access to echocardiography or to a pediatric cardiologist, which would necessitate the transfer of the screening-positive newborn to another facility,” Dr Shapira said.1

Public health support for CCHD screening is also not strong at this time. Currently, universal CCHD screening is performed in all but 2 states. “Most states have requirements to collect CCHD screening at the [DOH], but 15 states have no [specific] requirements for data collection,” noted Marci K. Sontag, PhD, of the Colorado School of Public Health at the University of Colorado Denver.1

How states collect and report data can vary significantly due to specific legislation regarding CCHD screening. “In some cases, newborn screening gets mandated with no provisions for data collection, while in other cases, screening is universally offered in the absence of a requirement that the state's public health department oversees data collection and quality improvement activity,” Dr Sontag said.1

Although the Health Resources & Services Administration (HRSA) and Congress have provided some funding for CCHD programs, limited funding is another challenge for CCHD screening. “While the cost of screening is borne by the birthing hospital, additional funding is needed to support education of parents and healthcare providers, infrastructure for data collection, and quality assurance activities,” Dr Sontag noted.”1

The NewSTEPs program, supported by HRSA, is a national, comprehensive resource center that collects case-level data on newborns screened by bloodspot and CCHD testing in order to evaluate the effectiveness of screening programs. In addition, NewSTEPs also provides resources for quality improvement and technical assistance and facilitates collaboration between screening programs.1

Even with NewSTEPs, the responsibility of supporting CCHD screening and data collection ultimately falls upon the state and hospital, as no direct federal funding is currently available. In contrast, the well-established Early Hearing Detection and Intervention program for screening newborns for hearing loss receives direct financial assistance from HRSA and the CDC. Dr Sontag recommended that “[t]he current programmatic and funding activities that are in place for early hearing detection should serve as a model for CCHD and other point-of-care screenings that are implemented in the future.”1

Meanwhile, important lessons for developing an effective CCHD program can be learned from New Jersey's experience with establishing state-wide CCHD screening. “New Jersey was the first state in the nation to both legislate and implement CCHD screening state-wide,” noted Kim Van Naarden Braun, PhD, of the New Jersey Department of Health and the Division of Congenital and Developmental Disorders National Center on Birth Defects and Developmental Disabilities at the CDC. “We found that the crucial component for establishment of the New Jersey CCHD screening surveillance program was bridging newborn screening with birth defect surveillance,” she added.1

New Jersey has linked reporting of CCHD screening data to the New Jersey Birth Defects Registry (NJBDR) with birth certificate data using an electronic platform. Birthing facilities use a short, one-page form to report aggregate data on CCHD screening on a quarterly basis. “The NJBDR has proven to be a very effective method for CCHD screening surveillance. The aggregate data form and quarterly submission process enabled us to assess screening coverage quite quickly,” Dr Van Naarden Braun said.1

In fact, from 2011 (when the program was first implemented) through 2014, 99.7% of eligible newborns underwent CCHD screening. The core CCHD team found that 45% of infants who failed the CCHD screen would have gone undiagnosed if the screening system had not been in place.1

Dr Van Naarden Braun attributed the success of the NJBDR to several factors. “The NJBDR staff's relationships with each of the birthing facilities supported the rapid implementation of this new module,” she said. “New Jersey's high rate of screening coverage and successful ongoing use of the BDR have gone hand in hand with extensive education and training efforts by the DOH in collaboration with New Jersey American Academy of Pediatrics,” she added.1

The CCHD screening program in New Jersey was also found to have minimal impact on hospital resources. On average, CCHD screening took 9 minutes and cost $14 per infant. Overall hospital costs were low as well, since only a small number of newborns required clinical exams and diagnostic testing. Nevertheless, Dr Van Naarden Braun noted that “[s]tudies are needed to address the national cost and burden of universal CCHD screening.”1

“Many questions remain with respect to both implementation and surveillance of CCHD screening and their national relevance as CCHD screening has become near-universal in the US,” Dr Van Naarden Braun said. “It's only when we come together as a public health system that we can analyze this data, determine the best algorithms for screening, and start to assess the long-term outcome and impact of the screening,” she added.1

References

  1. Shapira SK, Sontag MK, Van Naarden Braun K, Mason CA. CDC Public Health Grand Rounds: Point-of-care newborn screening [webinar]. Atlanta, GA: US Centers for Disease Control and Prevention; September 20, 2016. http://www.cdc.gov/cdcgrandrounds/archives/2016/september2016.htm. Accessed September 20, 2016.
  2. Oster ME, Lee KA, Honein MA, Riehle-Colarusso T, Shin M, Correa A. Temporal trends in survival among infants with critical congenital heart defects. Pediatrics. 2013;131(5):e1502-1508. doi: 10.1542/peds.2012-3435
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