Late detection of critical congenital heart disease among US infants: estimation of the potential impact of proposed universal screening using pulse oximetry.
OBJECTIVE
Critical congenital heart disease (CCHD) was added to the Recommended Uniform Screening Panel for Newborns in the United States in 2011. Many states have recently adopted or are considering requirements for universal CCHD screening through pulse oximetry in birth hospitals. Limited previous research is directly applicable to the question of how many US infants with CCHD might be identified through screening.


OBJECTIVE
To estimate the proportion of US infants with late detection of CCHD (>3 days after birth) based on existing clinical practice and to investigate factors associated with late detection.


METHODS
Descriptive and multivariable analysis. Data were obtained from a multisite population-based study of birth defects in the United States, the National Birth Defects Prevention Study (NBDPS). We included all live-born infants with estimated dates of delivery from January 1, 1998, through December 31, 2007, and nonsyndromic, clinically verified CCHD conditions potentially detectable through screening via pulse oximetry.


METHODS
The main outcome measure was the proportion of infants with late detection of CCHD through echocardiography or at autopsy under the assumption that universal screening at birth hospitals might reduce the number of such late diagnoses. Secondary outcome measures included prevalence ratios for associations between selected demographic and clinical factors and late detection of CCHD.


RESULTS
Of 3746 live-born infants with nonsyndromic CCHD, late detection occurred in 1106 (29.5% [95% CI, 28.1%-31.0%]), including 6 (0.2%) (0.1%-0.4%) first receiving a diagnosis at autopsy more than 3 days after birth. Late detection varied by CCHD type from 9 of 120 infants (7.5% [95% CI, 3.5%-13.8%]) with pulmonary atresia to 497 of 801 (62.0% [58.7%-65.4%]) with coarctation of the aorta. In multivariable analysis, late detection varied significantly by CCHD type and study site, and infants with extracardiac defects were significantly less likely to have late detection of CCHD (adjusted prevalence ratio, 0.58 [95% CI, 0.49-0.69]).


CONCLUSIONS
We estimate that 29.5% of live-born infants with nonsyndromic CCHD in the NBDPS received a diagnosis more than 3 days after birth and therefore might have benefited from routine CCHD screening at birth hospitals. The number of infants in whom CCHD was detected through screening likely varies by several factors, including CCHD type. Additional population-based studies of screening in practice are needed.
Division of Birth Defects and Developmental Disabilities, National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia2currently affiliated with National Center for Injury Prevention and Con.
Cora
C
Peterson
Division of Birth Defects and Developmental Disabilities, National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia3Epidemic Intelligence Service, Scientific Education and Professional De.
Elizabeth
E
Ailes
Division of Birth Defects and Developmental Disabilities, National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia.
Tiffany
T
Riehle-Colarusso
Division of Birth Defects and Developmental Disabilities, National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia4Sibley Heart Center, Children's Healthcare of Atlanta, Emory University.
Matthew E
ME
Oster
Division of Birth Defects and Developmental Disabilities, National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia.
Richard S
RS
Olney
Division of Birth Defects and Developmental Disabilities, National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia.
Cynthia H
CH
Cassell
Department of Pediatrics, The University of Texas Southwestern Medical Center, Dallas.
David E
DE
Fixler
Division of Neonatal and Developmental Medicine, Department of Pediatrics, Stanford University Medical School, Palo Alto, California.
Suzan L
SL
Carmichael
Division of Neonatal and Developmental Medicine, Department of Pediatrics, Stanford University Medical School, Palo Alto, California.
Gary M
GM
Shaw
Division of Birth Defects and Developmental Disabilities, National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia.
Suzanne M
SM
Gilboa
D006330:Heart Defects, Congenital / Q000175:diagnosis* / Q000453:epidemiology; D006801:Humans; D007223:Infant; D008403:Mass Screening / Q000379:methods*; D010092:Oximetry / Q000379:methods*; D015995:Prevalence; D014481:United States / Q000453:epidemiology