Late detection of critical congenital heart disease among us infants stimation of the potential impact of proposed universal screening using pulse oximetry

Cora Peterson, Elizabeth Ailes, Tiffany Riehle-Colarusso, Matthew E. Oster, Richard S. Olney, Cynthia H. Cassell, David E Fixler, Suzan L. Carmichael, Gary M. Shaw, Suzanne M. Gilboa

Research output: Contribution to journalArticle

58 Citations (Scopus)

Abstract

Importance 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. objectiveS 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. Design, Setting, and Participants 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. Main outcomes and measures The main outcome measurewas 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 and relevence 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.

Original languageEnglish (US)
Pages (from-to)361-370
Number of pages10
JournalJAMA Pediatrics
Volume168
Issue number4
DOIs
StatePublished - 2014

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Oximetry
Heart Diseases
Parturition
Autopsy
Outcome Assessment (Health Care)
Pulmonary Atresia
Aortic Coarctation
Delayed Diagnosis
Population

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Cite this

Late detection of critical congenital heart disease among us infants stimation of the potential impact of proposed universal screening using pulse oximetry. / Peterson, Cora; Ailes, Elizabeth; Riehle-Colarusso, Tiffany; Oster, Matthew E.; Olney, Richard S.; Cassell, Cynthia H.; Fixler, David E; Carmichael, Suzan L.; Shaw, Gary M.; Gilboa, Suzanne M.

In: JAMA Pediatrics, Vol. 168, No. 4, 2014, p. 361-370.

Research output: Contribution to journalArticle

Peterson, C, Ailes, E, Riehle-Colarusso, T, Oster, ME, Olney, RS, Cassell, CH, Fixler, DE, Carmichael, SL, Shaw, GM & Gilboa, SM 2014, 'Late detection of critical congenital heart disease among us infants stimation of the potential impact of proposed universal screening using pulse oximetry', JAMA Pediatrics, vol. 168, no. 4, pp. 361-370. https://doi.org/10.1001/jamapediatrics.2013.4779
Peterson, Cora ; Ailes, Elizabeth ; Riehle-Colarusso, Tiffany ; Oster, Matthew E. ; Olney, Richard S. ; Cassell, Cynthia H. ; Fixler, David E ; Carmichael, Suzan L. ; Shaw, Gary M. ; Gilboa, Suzanne M. / Late detection of critical congenital heart disease among us infants stimation of the potential impact of proposed universal screening using pulse oximetry. In: JAMA Pediatrics. 2014 ; Vol. 168, No. 4. pp. 361-370.
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abstract = "Importance 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. objectiveS 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. Design, Setting, and Participants 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. Main outcomes and measures The main outcome measurewas 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 and relevence 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.",
author = "Cora Peterson and Elizabeth Ailes and Tiffany Riehle-Colarusso and Oster, {Matthew E.} and Olney, {Richard S.} and Cassell, {Cynthia H.} and Fixler, {David E} and Carmichael, {Suzan L.} and Shaw, {Gary M.} and Gilboa, {Suzanne M.}",
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T1 - Late detection of critical congenital heart disease among us infants stimation of the potential impact of proposed universal screening using pulse oximetry

AU - Peterson, Cora

AU - Ailes, Elizabeth

AU - Riehle-Colarusso, Tiffany

AU - Oster, Matthew E.

AU - Olney, Richard S.

AU - Cassell, Cynthia H.

AU - Fixler, David E

AU - Carmichael, Suzan L.

AU - Shaw, Gary M.

AU - Gilboa, Suzanne M.

PY - 2014

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N2 - Importance 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. objectiveS 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. Design, Setting, and Participants 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. Main outcomes and measures The main outcome measurewas 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 and relevence 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.

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