JAMA Pediatrics Journal Club Slides:
Potential Impact of CCHD Screening
Peterson C, Ailes E, Riehle-Colarusso T, et al. Late detection of
critical congenital heart disease among US infants: estimation of
the potential impact of proposed universal screening using pulse
oximetry. JAMA Pediatr. Published online February 3, 2014.
doi:10.1001/jamapediatrics.2013.4779.
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Introduction
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Congenital heart defects affect approximately 1% of live births in the United
States; 25% are considered critical congenital heart disease (CCHD), requiring
surgery or catheterization at or before age 1 year.
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CCHD was added to the US Recommended Uniform Screening Panel for
Newborns in 2011.
– Screening performed using pulse oximetry.
– Screening recommended within 24-48 hours of birth.
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Study Objectives
– To estimate proportion of US infants with clinically validated,
nonsyndromic, screening-detectable CCHD whose condition was detected
late (>3 days after birth).
– To investigate clinical and demographic factors associated with late
detection.
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Methods
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Study Design: National Birth Defects Prevention Study (NBDPS).
– Ongoing, population-based, case-control study of >30 major birth defects.
– CCHD confirmed by echocardiography, catheterization, surgery, or
autopsy.
– Chromosomal or single-gene disorders excluded.
– Clinical data obtained from medical records.
– Demographic characteristics, exposures, and medications from maternal
interview.
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Setting
– Infants born from January 1, 1998, through December 31, 2007.
– Mothers lived in sampled states (Arkansas, California, Georgia, Iowa,
Massachusetts, New Jersey, New York, North Carolina, Texas, Utah) at
time of delivery.
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Patients
– Live-born infants with nonsyndromic, clinically verified CCHD.
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Methods
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Outcome: Late CCHD detection.
– No evidence of diagnostic echocardiography prenatally or ≤3 days of birth.
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Analysis
– Assessed timing of CCHD diagnosis (prenatal, postnatal, and autopsy).
– Poisson multivariable regression model with robust sandwich error
variance used to examine factors associated with late detection, including:
From birth defects surveillance data
– NBDPS study site.
– Presence of extracardiac defects (ie,
major defects in organ systems outside
the heart).
– CCHD type.
– Gestational age at delivery.
– Estimated date of delivery year.
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From NBDPS maternal interview data
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First-degree family history of CHD.
Plurality.
Maternal race/ethnicity and education.
Maternal age at delivery.
Pregestational diabetes.
Prepregnancy body mass index.
Preexisting hypertension.
Fertility treatments.
Previous pregnancy losses.
Trimester of the first prenatal care visit.
Results
Derivation of Study Sample of Infants
With CCHD in the NBDPS, 1998-2007
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Results
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Results
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In multivariable analysis, late detection varied significantly by the following:
– CCHD type: Adjusted prevalences of late detection among infants with Ebstein
anomaly, single ventricle, critical pulmonary stenosis, interrupted aortic arch,
tetralogy of Fallot, double-outlet right ventricle, truncus arteriosus, total
anomalous pulmonary venous return, and coarctation of the aorta were each
significantly greater than among infants with hypoplastic left heart syndrome.
– Study site: Two-fold difference between the sites with the lowest and highest
adjusted prevalence of late detection (adjusted prevalence ratio = 2.09; 95% CI,
1.66-2.63).
– Presence of extracardiac defects: Adjusted prevalence of late detection among
infants with extracardiac defects was 42% less (adjusted prevalence ratio = 0.58;
95% CI, 0.49-0.69) than among infants without extracardiac defects.
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Late detection did not vary significantly by other maternal or infant
characteristics studied.
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Comment
Limitations
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May have overestimated the
proportion of infants with late
detected CCHD, as NBDPS
captures diagnosis by specific
means (echocardiography,
autopsy, surgery) rather than
initial date of diagnosis.
Analysis limited to infants with
CCHD whose mothers had
participated in NBDPS.
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Strengths
• Multisite population-based study
with excellent CCHD diagnostic
accuracy.
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Clinical definition of CCHD and
timely detection directly pertinent
to new US recommendations for
universal newborn screening.
Comment
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Estimated 30% of live-born infants with nonsyndromic CCHD in the
NBDPS were diagnosed >3 days after birth.
– Varied substantially by CCHD type from 8% (pulmonary atresia) to
62% (coarctation of the aorta).
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Many infants with CCHD might benefit from screening through pulse
oximetry before birth hospital discharge.
– Whether these infants are actually detected through screening is
likely to vary by a number of factors, including CCHD type and the
presence of extracardiac defects.
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Future studies of routine screening in practice might provide more insight
into detection rates by CCHD type.
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Contact Information
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If you have questions, please contact the corresponding author:
– Cora Peterson, PhD, National Center for Injury Prevention and
Control, Centers for Disease Control and Prevention, Mailstop F-62,
4770 Buford Hwy, Atlanta, GA 30341 (cora.peterson@cdc.hhs.gov).
Funding/Support
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This study was supported by cooperative agreements under PA 96043,
PA 02081, and FOA DD09-001 from the Centers for Disease Control and
Prevention.
Conflict of Interest Disclosures
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None reported.
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