Critical congenital heart defects (CCHD) occur in approximately two of every 1,000
live births (1). Newborn screening provides an opportunity for reducing infant morbidity
and mortality (2,3). In September 2011, the U.S. Department of Health and Human Services
(HHS) Secretary endorsed the recommendation that critical congenital heart defects
be added to the Recommended Uniform Screening Panel (RUSP) for all newborns (4). In
2014, CDC collaborated with the American Academy of Pediatrics (AAP) Division of State
Government Affairs and the Newborn Screening Technical Assistance and Evaluation Program
(NewSTEPs) to assess states’ actions for adopting newborn screening for CCHD. Forty-three
states have taken action toward newborn screening for CCHD through legislation, regulations,
or hospital guidelines. Among those 43, 32 (74%) are collecting or planning to collect
CCHD screening data; however, the type of data collected by CCHD newborn screening
programs varies by state. State mandates for newborn screening for CCHD will likely
increase the number of newborns screened, allowing for the possibility of early identification
and prevention of morbidity and mortality. Data collection at the state level is important
for surveillance, monitoring of outcomes, and evaluation of state CCHD newborn screening
programs.
Congenital heart defects occur in approximately eight of every 1,000 live births,
one fourth of which are considered to be CCHD (1). CCHD are defined as those requiring
surgery or catheterization before age 1 year. In the absence of early detection, infants
with CCHD are at risk for serious complications or death within the first few days
or weeks of life (1). Newborn screening for CCHD uses pulse oximetry, a noninvasive
technology to measure blood oxygen saturation. Low oxygen saturation indicates hypoxemia,
an early clinical sign of CCHD. Additional testing (e.g., repeat screening, echocardiogram)
is needed following an abnormal pulse oximetry screen (1) to determine whether CCHD
are present (or to determine the cause of the abnormal result). Thus, unlike most
newborn screening conditions, screening for CCHD is not based on performing a blood
test. In addition, hypoxemia detected by screening could indicate a medical problem,
and requires immediate follow-up before discharge from the hospital.
When accompanied by early identification and treatment, newborn screening provides
an opportunity to reduce infant morbidity and mortality (2,3). The Secretary’s Advisory
Committee on Heritable Disorders in Newborns and Children has provided national guidelines
and recommendations on newborn screening, known as the RUSP, and this panel is reviewed
and endorsed by the HHS Secretary (3). As of March 2015, 32 conditions were included
in the RUSP. States use the RUSP as guidance when considering adopting conditions
for their own screening panels (3). State decisions might differ depending on method
of screening required or the legislative authority of the newborn screening program.
When states add conditions to their state-specific screening panels, they do so by
state legislation, or rules and regulations (5). In 2010, the Secretary’s Advisory
Committee on Heritable Disorders in Newborns and Children recommended adding CCHD
to the RUSP for all newborns (4). In September 2011, the HHS Secretary endorsed the
recommendation.
To assess states’ actions for adopting newborn screening for CCHD, CDC collaborated
with the AAP Division of State Government Affairs and NewSTEPs. AAP obtained primary
information through direct contact and partnership with AAP state chapters. AAP monitored
state legislation by use of tracking software; regulations and hospital guidelines
were researched on state websites.
NewSTEPs is a program of the Association of Public Health Laboratories in collaboration
with the Colorado School of Public Health, funded through a cooperative agreement
from the Health Resources and Services Administration (6). NewSTEPs maintains a data
repository of state newborn screening program metrics and provides education and technical
assistance to newborn screening programs. In January 2014, NewSTEPs distributed a
survey on CCHD newborn screening adoption and data collection practices to state CCHD
newborn screening programs. The survey requested the status of CCHD mandates and requirements
for data collection. If data collection was required at the state level, additional
information was requested on the type of data collected. All 50 states and the District
of Columbia participated.
The survey findings indicated that 43 states have legislation, regulations, or hospital
guidelines in place supporting CCHD newborn screening; 35 states have legislation,
and 13 have regulations related to CCHD screening (Table). Among the 43, three states
(Indiana, Maryland, and New Jersey) enacted legislation before the Secretary’s approval
of adding CCHD to the RUSP in 2011 (Table). State adoption of CCHD screening peaked
in 2013 with 25 states adopting screening (Figure 1).
The manner in which these 43 states developed universal screening varied substantially
(Figure 2), and for some was a multistage process (Table). For example, California
passed legislation requiring that CCHD screening be offered to parents of newborns.
In 2013, Pennsylvania issued a regulation requiring reporting of results and diagnoses
of screened newborns. However, the regulation did not mandate screening. In 2014,
Pennsylvania enacted a law requiring screening. In 2012, Tennessee initially passed
legislation that required the state’s genetic advisory committee to develop a program
for addition of CCHD to its screening panel. In 2013, Tennessee added CCHD to its
panel via regulation. In 2012, Virginia’s governor issued an executive order establishing
a work group to develop a CCHD screening implementation plan, and legislation for
mandatory screening was passed in 2014. In 2013, Massachusetts issued guidelines that
recommended hospitals screen newborns and passed mandatory screening legislation in
2014. In 2014, Wisconsin enacted a law that allows the state department of health
to add conditions to its state panel via regulation. Soon after enactment, regulations
were issued adding CCHD to its panel.
Seven states and the District of Columbia support CCHD newborn screening as the standard
of care with no mandate in place. Two states and the District of Columbia report that
all hospitals are screening for CCHD (Table).
By December 2014, among the 50 states and the District of Columbia, data collection
within each newborn screening program varied from no data collection to collection
of all screening results for every newborn. Of the states that have implemented, or
are planning to implement CCHD screening, 24 reported current data collection, 14
reported planning future data collection, and 13 reported no plans for data collection
(Table). The types of data collection vary from aggregate data collection only, collection
of pass/fail results on all newborns, oxygen saturation results on all newborns, oxygen
saturation results on failed newborns only, or a combination of these (Table).
Discussion
The increasing number of states mandating newborn screening for CCHD will likely increase
the number of newborns screened, allowing for early identification and the potential
for the prevention of morbidity and mortality. Most newborn screening conditions are
tested through a heel stick test, with bloodspot analysis at public health or contracted
laboratories. Screening for CCHD is a point-of-care test that occurs in hospitals
before a newborn is discharged, with results entered into the medical record. Therefore,
the role of public health is different than that for newborn bloodspot screening (7).
This role might present challenges in data collection and surveillance for evaluating
CCHD screening, because uniform reporting systems might not be established between
public health programs, birthing centers, and hospitals (8). States have previously
reported barriers to involvement with CCHD screening, such as the lack of legislative
authority, staffing, funding, and informatics infrastructure (9). This report represents
the first assessment of state legislative activities, requirements for collection
of screening data, and progress made with screening activities, despite previously
reported barriers.
State-level data collection is vital for surveillance, monitoring of outcomes, and
evaluation of state CCHD newborn screening programs. Although all types of screening
data can be valuable, individual-level data are important for surveillance and evaluation.
Collecting data related to factors associated with false-positive and false-negative
results could help refine the recommended CCHD screening algorithm and screening activities
(7). As states evaluate the implementation of CCHD screening, they are encouraged
to consider programmatic changes that would improve their screening program, such
as the inclusion of individual-level data reporting.
Enactment of a state law or regulation does not translate into immediate and universal
change in clinical practice. In addition to policy changes, the proper public health
infrastructure, including infrastructure needs for data collection and reporting of
CCHD screening results, is vital to ensure a successful CCHD newborn screening program.
Summary
What is already known on this topic?
Congenital heart defects occur in approximately eight in every 1,000 live births,
one fourth of which are considered to be critical congenital heart defects (CCHD).
Newborn screening using pulse oximetry can detect hypoxemia, a clinical sign of CCHD.
What is added by this report?
This report represents the first assessment of state’s actions to adopt newborn screening
for CCHD and requirements for collection of CCHD screening data. Forty-three states
have taken action toward newborn screening for CCHD through statute, regulations,
or hospital guidelines. Among the 43 states, 32 (74%) are collecting or planning to
collect CCHD screening data.
What are the implications for public health practice?
State mandates for newborn screening for CCHD might increase the number of newborns
screened, allowing for early identification and prevention of morbidity and mortality.
Data collection and reporting are essential to evaluate the effect of this public
health program.