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Estimated Number of Infants Detected and Missed by Critical Congenital Heart Defect Screening
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    Background and objectives

    In 2011, the U.S. Secretary of Health and Human Services recommended universal screening of newborns for critical congenital heart defects (CCHD), yet few estimates of the number of infants with CCHD likely to be detected through universal screening exist. Our objective was to estimate the number of infants with nonsyndromic CCHD in the United States likely to be detected (true positives) and missed (false negatives) through newborn CCHD screening.


    We developed a simulation model based on estimates of birth prevalence, prenatal diagnosis, late detection, and sensitivity of newborn CCHD screening through pulse oximetry to estimate the number of true positive and false negative nonsyndromic cases of the seven primary and five secondary targets of CCHD screening identified through screening.


    We estimated that 875 (95% uncertainty interval [UI]: 705–1,060) U.S. infants with nonsyndromic CCHD, including 470 (95% UI: 360–585) among primary CCHD screening targets, will be detected annually through CCHD newborn screening. An additional 880 (UI: 700–1,080) false negative screenings, including 280 (95% UI: 195–385) among primary screening targets, are expected. We estimated that similar numbers of CCHD (within ~1 case/10,000 live births) would be detected under scenarios comparing “lower” (~19%) and “higher” (~42%) than current prenatal detection prevalences.


    A substantial number of nonsyndromic CCHD cases are likely to be detected through universal CCHD screening; however, an equal number of false negative screenings, primarily among secondary targets of screening, are likely to occur. Future efforts should document the true impact of CCHD screening in practice.

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    CC999999/Intramural CDC HHS/United States
    FOA DD09-001/DD/NCBDD CDC HHS/United States
    PA 02081/PHS HHS/United States
    PA 96043/PHS HHS/United States
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