late detection of critical congenital heart disease among us infants estimation of the potential...
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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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• 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.
• 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.
• 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.
Introduction
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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.
• 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.
• Patients – Live-born infants with nonsyndromic, clinically verified CCHD.
Methods
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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.
From NBDPS maternal interview data
– 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.
Methods • Outcome: Late CCHD detection.
– No evidence of diagnostic echocardiography prenatally or ≤3 days of birth.
• 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:
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Results
Derivation of Study Sample of Infants With CCHD in the NBDPS, 1998-2007
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Results
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Results • 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.
• Late detection did not vary significantly by other maternal or infant characteristics studied.
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Comment Limitations
• 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.
Strengths
• Multisite population-based study with excellent CCHD diagnostic accuracy.
• Clinical definition of CCHD and
timely detection directly pertinent to new US recommendations for universal newborn screening.
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Comment • 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).
• 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.
• Future studies of routine screening in practice might provide more insight into detection rates by CCHD type.
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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 ([email protected]).
Funding/Support • 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 • None reported.
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