Missed Diagnosis of Critical Congenital Heart Disease

Chang, Ruey‐Kang R.; Gurvitz, Michelle; Rodríguez, Sandra

doi:10.1001/archpedi.162.10.969

Cited by 186 publications

(168 citation statements)

References 37 publications

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“…More than 50% of CCHD deaths (up to 30 infants a year) could be attributed to late or missed diagnosis in the neonatal period in the state of California alone [7]. Evidence presented in the Chang study and others [8] demonstrated that additional methods of detection for CCHD, aside from prenatal ultrasound and physical examination of the neonate, were needed.…”

Section: Early Studies and 2009 Scientific Statementmentioning

confidence: 98%

Critical Congenital Heart Disease Screening Using Pulse Oximetry: Achieving a National Approach to Screening, Education and Implementation in the United States

Wandler

Martin

2017

IJNS

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Abstract:A national approach to screening for critical congenital heart disease (CCHD) using pulse oximetry was undertaken in the United States. Following the scientific studies that laid the groundwork for the addition of CCHD screening to the U.S. Recommended Uniform Screening Panel (RUSP) and endorsement by professional societies, advocates including physicians, nurses, parents, medical associations, and newborn screening interest groups were able to successfully pass laws requiring the screen on a state by state basis. Public health involvement and screening requirements vary by state. However, a common algorithm, education, and implementation strategies were shared nationally as well as CCHD toolkits to aid in the implementation in hospitals. Health Resources & Services Administration (HRSA) grants to pilot states encouraged the development of a public health infrastructure around screening, data collection, and quality measures. The formation of a CCHD NewSTEPs technical advisory work group provided a systematic way to tackle challenges and share best practices by hosting monthly meetings and webinars. CCHD screening is now required in 48 states, with over 98% of U.S. births being screened for CCHD using pulse oximetry. A standard protocol has been implemented in most states. While the challenges related to screening special populations and quantifying screening outcomes through the creation of a national data repository remain; universal implementation is nearly complete.

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Section: Early Studies and 2009 Scientific Statementmentioning

confidence: 98%

Critical Congenital Heart Disease Screening Using Pulse Oximetry: Achieving a National Approach to Screening, Education and Implementation in the United States

Wandler

Martin

2017

IJNS

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“…[1][2][3][4] Newborn infants with CoA may be initially asymptomatic, but they will rapidly deteriorate after constriction of the arterial duct and risk death if not diagnosed in time to reverse the situation with prostaglandin E1 (PGE1). In a previous study, we found that newborns with critical congenital heart defects (CCHDs) were increasingly being discharged undiagnosed from the maternity ward in parallel with shorter postnatal stays and that aortic arch obstruction was the most frequently missed cardiac defect.…”

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confidence: 99%

Late Diagnosis of Coarctation Despite Prenatal Ultrasound and Postnatal Pulse Oximetry

2015

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To determine what contribution prenatal ultrasound screening and neonatal pulse oximetry screening (POS) make to the timely diagnosis of neonatal coarctation of the aorta (CoA). METHODS:We identified infants and fetuses diagnosed with isolated CoA in our referral area between 2003 and 2012 who died without surgery, underwent surgical repair before 2 months of age, or were terminated after a prenatal diagnosis. Clinical data were collected from hospital charts.RESULTS: Only 3 of the 90 cases were diagnosed prenatally. Two of the 3 were born alive and in 1 case the couple opted for termination of pregnancy. Nineteen of the remaining 87 cases were born in units that used POS (hand and foot) and 4 of 19 screened positive. Of the remaining 83 cases, 46 were discharged undiagnosed (7 after nondiagnostic echocardiography), including 9 with a murmur and weak femoral pulses and 8 with a murmur and normal pulses. One was diagnosed postmortem after dying at home, and 22 of the remaining 45 discharged infants were in circulatory failure on readmission. Five of the patients who were not discharged died without surgery and undiagnosed CoA was the most probable cause of death in 2 of these patients.

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“…3,5,6 Several also incorporate a measure of severity, including a requirement that surgery, catheterization, or death occur within a specified time period, ranging from the first few weeks to the first year of life. [7][8][9] Although delayed diagnosis of CCHDs has been associated with serious complications, including seizure, cardiac arrest, and death, 7,10,11 few studies have examined temporal trends or factors associated with delayed diagnosis. Previous studies of late-detected CCHD differ in case definition and study methodology, but most have reported prevalence rates of ∼20% to 30%.…”

mentioning

confidence: 99%

“…Previous studies of late-detected CCHD differ in case definition and study methodology, but most have reported prevalence rates of ∼20% to 30%. 6,[11][12][13] Factors that have been associated with late diagnosis include certain CCHD types, 6,8,9,12 nontertiary hospital nursery, 12 and absence of extracardiac defects. 6 The Secretary of Health and Human Services has recommended routine screening of newborns for CCHD with pulse oximetry, because earlier diagnosis may lead to better outcomes.…”

mentioning

confidence: 99%

Delayed Diagnosis of Critical Congenital Heart Defects: Trends and Associated Factors

et al. 2014

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OBJECTIVE: We aimed to examine trends in timing of diagnosis of critical congenital heart defects (CCHDs) and factors associated with delayed diagnosis (diagnosis after discharge home following delivery). METHODS: We examined a population-based retrospective cohort of CCHD cases among live births identified through the Massachusetts Birth Defects Monitoring Program. Congenital heart defects were considered critical if the infant received corrective surgery, interventional catheterization, palliative care, or died as a result of the defect within 12 months of birth. Timing of initial diagnosis was classified as prenatal, postnatal before discharge home, or delayed. Demographic, perinatal, and mortality information was obtained from the Registry of Vital Records and Statistics. Prevalence ratios (PRs) were used to examine associations with delayed diagnosis. RESULTS: Among 460 467 live births to Massachusetts residents between 2004 and 2009, we identified 916 CCHD cases, of which 126 (13.8%) had delayed diagnosis. Rates of prenatal CCHD diagnosis increased from 44.9% in 2004 to 63.8% in 2009, whereas rates of delayed diagnosis decreased from 17.1% to 10.6% over the same time period. Among cases with delayed diagnosis, the most common defects were coarctation, pulmonary valve stenosis, and tetralogy of Fallot. Delayed diagnosis was associated with delivery outside a tertiary hospital (adjusted PR: 3.6 [95% confidence interval: 2.5–5.2]) and isolated CCHD (adjusted PR: 1.7 [95% confidence interval: 1.1–2.7]). CONCLUSIONS: Despite increasing prenatal diagnosis of CCHDs, delayed diagnosis still occurs in over 10% of cases. Understanding factors associated with delayed diagnosis could help to improve prenatal and postnatal screening efforts, including pulse oximetry testing.

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Missed Diagnosis of Critical Congenital Heart Disease

Cited by 186 publications

References 37 publications

Critical Congenital Heart Disease Screening Using Pulse Oximetry: Achieving a National Approach to Screening, Education and Implementation in the United States

Critical Congenital Heart Disease Screening Using Pulse Oximetry: Achieving a National Approach to Screening, Education and Implementation in the United States

Late Diagnosis of Coarctation Despite Prenatal Ultrasound and Postnatal Pulse Oximetry

Delayed Diagnosis of Critical Congenital Heart Defects: Trends and Associated Factors

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