Critical Congenital Heart Disease Cases Research Articles

Using State Birth Defects Registries to Evaluate Regional Critical Congenital Heart Disease Newborn Screening

Most states have now passed legislation mandating pulse oximetry for all newborns, or have promulgated regulations or guidelines to encourage use of routine pulse oximetry. State-based birth defects registries may be well positioned to track and evaluate critical congenital heart disease (CCHD) screening coverage and outcomes. This purpose of this study was to determine: (1) the proportion of cases detected by screening, (2) health services use by children with CCHDs during the first year of life, and (3) mortality outcomes. Records of children born in 2012 to 2013 with any of seven CCHD lesions were identified in New England birth defects databases. Information was abstracted from each child's medical record. Descriptive statistics were used to report results. From nearly 160,000 live births, 208 CCHD diagnoses were noted in the records of 157 children. Screening was noted in 67% of records of confirmed cases of CCHDs. Data completeness varied by state; for example, information was available regarding prenatal diagnosis in 91% of records and age at first surgery in 85% among states with active surveillance compared with 35% and 75%, respectively, with passive surveillance. Documentation of screening results in medical records was inconsistent. The one year survival was 85% (77/91). Birth defects surveillance systems can provide information on outcomes for infants with CCHDs. However, information varies by surveillance method and by hospital practices. Engaging hospitals in standardizing recording procedures and enhancing training and quality control could increase the value of birth defects registries records in assessing outcomes for children identified through CCHD screening. Birth Defects Research 109:1414-1422, 2017.© 2017 Wiley Periodicals, Inc.

Assessment of undiagnosed critical congenital heart disease before discharge from the maternity hospital

Objective: Undiagnosed critical congenital heart disease (CCHD) was assessed before discharge from maternity hospital.Basic information was provided for screening CCHD in the early neonatal stage.Chi-squared test was used for comparison of categorical variables(detection rate of different types of CCHD). Method: A retrospective cohort study was conducted in neonates with CCHD who were admitted to Children's Hospital of Fudan University between 1 January 2012 and 31 December 2015. For comparing with the previously reported undiagnosed rate of CCHD at discharge, CCHD was defined as all duct dependent congenital heart disease (DDCHD) and any cyanotic CHD that required early surgery. Result: A total of 1 036 infants with CCHD were included. The prenatal detection rate of CCHD was 14.04%(122/869). As a whole, 52.51% (544/1 036) of CCHD cases were undiagnosed at discharge, and 14.09%(146/1 036)were still missed after 6-week examination. The diagnoses most likely to be unrecognized at discharge included critical coarctation of the aorta (COA) (75.00%), total anomalous pulmonary venous connection (61.54%), pulmonary atresia (PA) with ventricle septal defect (VSD) (61.45%), single ventricle (SV) (60.10%) and critical aortic stenosis (52.94%). Among newborns diagnosed prior to discharge, 54.88% (270/492) due to symptom or prenatal ultrasonographic diagnosis, 45.12% (222/492) due to abnormal findings in routine examination. Among asymptomatic CCHD cases without prenatal diagnosis, 71.02% (544/766) were undiagnosed and the most common delayed diagnosis was SV (82.78%), interrupted aortic arch (81.82%), transposition of the great arteries with intact ventricular septum (79.63%), PA/VSD (79.07%), and critical COA (78.57%). Newborns with DDC were more likely to develop symptoms within the first few days after birth, in comparison with non-DDC cases. However, their detection rates were close to each other. Conclusion: The rate of misdiagnosis of CCHD before discharge from maternity hospitals is high in China, indicates the importance of implementation of CCHD screening in Chinese maternity hospitals, so as to give timely diagnosis and proper treatment.

Texas Pulse Oximetry Project: A Multicenter Educational and Quality Improvement Project for Implementation of Critical Congenital Heart Disease Screening Using Pulse Oximetry.

Objective Critical congenital heart disease (CCHD) is a leading cause of death in infants. Newborn screening (NBS) by pulse oximetry allows early identification of CCHD in asymptomatic newborns. To improve readiness of hospital neonatal birthing facilities for mandatory screening in Texas, an educational and quality improvement (QI) project was piloted to identify an implementation strategy for CCHD NBS in a range of birthing hospitals. Study Design Thirteen Texas hospitals implemented standardized CCHD screening by pulse oximetry. An educational program was devised and a tool kit was created to facilitate education and implementation. Newborn nursery nurses' knowledge was assessed using a pre- and posttest instrument. Results The nurses' knowledge assessment improved from 71 to 92.5% (p < 0.0001). Of 11,322 asymptomatic newborns screened after 24 hours of age, 11 had a positive screen, with 1 confirmed case of CCHD. Pulse oximetry CCHD NBS had sensitivity of 100%, specificity of 99.91%, false-positive rate of 0.088%, positive predictive value of 9.09%, and negative predictive value of 100%. Conclusion Our educational program, including a tool kit, QI processes, and standardized pulse oximetry CCHD NBS, is applicable for a range of hospital birthing facilities and may facilitate wide-scale implementation, thereby improving newborn health.

Pulse Oximetry Screening in newborn for early detection of Critical Congenital Heart Disease - A review

Approximately 9 of 1000 live births have congenital heart disease, of these ~25% have critical congenital heart disease (CCHD). Delayed or missed diagnosis of CCHD may result in acute cardiovascular collapse. Echocardiography is a necessary diagnostic tool but it’s cost is a severe limitation as a universal screening tool. Clinically undetectable hypoxemia is present to some degree in most CCHD and this technique can be used as a screening method for early detection. In 2012, a systematic review involving over 300,000 babies reported that pulse oximetry test is highly specific (99.9%) and moderately sensitive (76.5%) with a low false positive rate (0.05%). The test is simple, feasible, cost effective, highly specific and sufficiently sensitive to qualify for screening test. Parents and caregivers should be informed that pulse oximetry cannot detect all cases of CCHD. A positive test result needs to be confirmed by echocardiography, which is considered as the definitive diagnostic modality. Whenever possible, the echocardiogram should be interpreted by pediatric cardiologistsBangladesh J Child Health 2015; VOL 39 (3) :148-153

Clinical Value of 5 Necessary Echocardiographic Views in the Screening of Critical Congenital Heart Disease

Analyze the necessary echocardiographic views in the screening of critical congenital heart disease(CCHD) and its value of application. We had transcutaneous oxygen saturation screening for 4444 cases among a total of 4510 cases of newborn and had echocardiographic screening for 11 cases who were failed in the transcutaneous oxygen saturation screening. Analyze the different echocardiographic views, especially for the 5 echocardiographic views on parasternal long axis view of left ventricle, parasternal short axis view of aorta, apical four chamber view, apical five chamber view and suprasternal long axis of aortic arch. According to application of echocardiographic screening for 11 cases, there were 6 cases of CCHD and 5 cases of Non-CCHD. The follow-up result shows that the 11 cases were all with correct diagnosis. So we think that the necessary 5 echocardiographic views could be as basis of CCHD diagnosis. The application and use of the 5 necessary echocardiographic views could streamline the process of screening CCHD and make it more efficient. In view of its easy to learn and master, it can be recommended as a method for screening CCHD in primary hospitals in china.

A novel, more efficient, staged approach for critical congenital heart disease screening.

ObjectiveScreening for critical congenital heart disease (CCHD) using pulse oximetry has been endorsed by the AAP and the AHA. The recommended screening requires two saturation readings. We sought to determine the incidence of undetected CCHD in Tennessee for the two years following implementation of an algorithm that assigned an immediate pass to a single lower extremity saturation of 97% or higher.Study DesignState Genetic Screening records and reports of missed cases from the Tennessee Initiative for Perinatal Quality Care were used to determine if CCHD cases were missed by the new screening algorithm.ResultDuring the study, 232 infants failed the screen with 51 or 22% true positives, 13 infants had undetected CCHD (10 coarctations, 2 Anomalous veins, 1 Tetralogy of Fallot).ConclusionThis approach eliminated over 150,000 pulse oximetry determinations in Tennessee without affecting the ability of pulse oximetry to detect CCHD before discharge.

Pulse oximetry could significantly enhance the early detection of critical congenital heart disease in neonatal intensive care units

AimLimited data have been available regarding critical congenital heart disease (CHD) screening in neonatal intensive care unit (NICUs). This study evaluated the feasibility of screening for CHD by adding pulse oximetry (POX) to clinical evaluation in a NICU in Shanghai, China.MethodsWe screened 4128 eligible consecutive NICU admissions using POX plus clinical evaluation. Infants with positive screening results were then evaluated with echocardiography. Those with negative screening results were put under observation, and they also underwent echocardiography if their oxygen saturation fell below 95% on room air during hospitalisation.ResultsThis enhanced procedure detected 19 critical CHD cases, and seven of these diagnoses would have been delayed if POX had not been incorporated into the screening strategy. This means that the addition of POX increased the detection rate of critical CHD from 63.2 to 100%. The false‐positive rate of critical CHD screening using POX plus clinical evaluation was higher in NICU patients with high morbidity rates.ConclusionWhen pulse oximetry screening was added to clinical evaluation, it increased the number of critical CHD cases that were detected in our NICU. This method could provide a useful screening protocol for critical CHD cases.

Fetal cardiology: changing the definition of critical heart disease in the newborn.

Infants born with congenital heart disease (CHD) may require emergent treatment in the newborn period. These infants are likely to benefit the most from a prenatal diagnosis, which allows for optimal perinatal planning. Several cardiac centers have created guidelines for the management of these high-risk patients with CHD. This paper will review and compare several prenatal CHD classification systems with a particular focus on the most critical forms of CHD in the fetus and newborn. A contemporary definition of critical CHD is one which requires urgent intervention in the first 24 h of life to prevent death. Such cardiac interventions may be not only life saving for the infant but also decrease subsequent morbidity. Critical CHD cases may require delivery at specialized centers that can provide perinatal, obstetric, cardiology and cardiothoracic surgery care. Fetuses diagnosed in mid-gestation require detailed fetal diagnostics and serial monitoring during the prenatal period, in order to assess for ongoing changes and identify progression to a more severe cardiac status. Critical CHD may progress in utero and there is still much to be learned about how to best predict those who will require urgent neonatal interventions. Despite improved therapeutic capabilities, newborns with critical CHD continue to have significant morbidity and mortality due to compromise that begins in the delivery room. Fetal echocardiography is the best way to predict the need for specialized care at birth to improve outcome. Once the diagnosis is made of critical CHD, delivery at the proper time and in appropriate institution with specific care protocols should be initiated. More work needs to be done to better delineate the risk factors for progression of critical CHD and to determine which newborns will require specialized care. The most frequently described forms of critical CHD requiring immediate intervention include hypoplastic left heart syndrome with intact or severely restricted atrial septum, obstructed total anomalous pulmonary venous return and transposition of the great arteries with restrictive atrial septum.

Is routine preoperative transthoracic echocardiography necessary in newborns with myelomeningocele?

Congenital heart disease (CHD) is common in newborns with myelomeningocele. Echocardiography before neonatal back closure has been recommended. Its utility in the era of prenatal diagnosis is unclear. We reviewed all newborns with myelomeningocele evaluated by preoperative echocardiography at our institution over 11 years. Seventy-six successive newborns were identified. Ninety-one percent were prenatally diagnosed with myelomeningocele. In all, 1% had critical, 12% critical or non-critical and 22% critical, non-critical or possible CHD. The single case of critical CHD was both prenatally diagnosed and clinically identifiable. The prevalence of CHD in newborns with myelomeningocele is increased compared with the general population; however, critical disease is uncommon. We propose preoperative echocardiography is unnecessary when the myelomeningocele is prenatally diagnosed, antenatal cardiac screening is complete and normal, and the newborn is clinically well.

6: Towards Pulse Oximetry Screening in Ontario, Canada: What is the Burden of Missed Critical Congenital Heart Disease?

Pulse oximetry screening (POS) for critical congenital heart disease (CCHD) in newborns is gaining acceptance in clinical practice. The geographical setting of Ontario in relation to its vast yet sparsely populated regions presents unique challenges with regards to POS implementation. Evaluate the incidence of missed CCHD cases and the trends over time in Ontario, Canada over 10 years as a first step towards consideration of POS. Data from multiple, linked, administrative health and demographic datasets were used to determine the annual incidence of total and missed cases of CCHD in Ontario from 2002–11, along with baseline demographics including designated level of birth hospital. Patients discharged home prior to diagnosis of CCHD were considered to have “missed CCHD” and were further subcategorized into “definitely missed” [1 of 9 pre-determined severest CCHDs and re-admission within 30 days or death] and “possibly missed” [1 of 6 less severe CCHDs requiring readmission in first year of life resulting in either cardiac intervention or death]. Annual trends in incidence of missed CCHD were evaluated during study period. Of 1,343,850 total births in Ontario during the study period, 2787 (0.21%) had a diagnosis of CCHD and 438 (15.7%) cases of CCHD were missed. Of these 438 patients, 66 were definitely and 372 were possibly missed CCHD cases and the proportion delivered in hospitals without neonatal intensive care capability was 77.3% and 82.5%, respectively. There was no discernible change in the incidence of missed CCHD cases over the ten year period. Despite a low overall incidence of CCHD, a significant proportion of CCHD cases were not diagnosed prior to discharge home, and the vast majority were delivered in non-tertiary hospitals. Further research is required to evaluate the logistical and economic impact of POS implementation in Ontario in light of these data.

The Pattern of Congenital Heart Disease among Neonates Referred for Echocardiography

Objective: To define the pattern of congenital heart disease (CHD) among neonates referred for echocardiography. Setting: Department of Pediatrics, Qatif Central Hospital. Design: A Prospective longitudinal and hospital based study. Method: All neonates with suspected CHD referred for echocardiography were reviewed for one year from March 2011. Result: Echocardiography was requested for 289 (9.5%) neonates, male to female ratio 1:1.1, mean birth weight 2.909 kg (range 0.605-5.150 kg); most of them were full-term (86%). One hundred forty-six (50.5%) neonates underwent echocardiography within the first 24 hours (group I). Among those neonates referred for echocardiography, 245 (84.8%) had heart murmur, 9 (3.1%) had cyanosis, 5 (1.7%) had questionable cardiomegaly, 13 (4.5%) had congenital anomalies, and 17 (5.9%) had various anomalies. Heart murmur was detected in 257 (88.9%) during routine neonatal examination. Sixty-four (2.1%) neonates were diagnosed to have CHD, 8 (12.5%) of them have critical congenital heart disease (CCHD). The most common CHD was ventricular septal defect (VSD) 32 (43.2%) followed by secundum atrial septal defect 31 (41.9%). Among 23 neonates with congenital anomalies referred for echocardiography, 10 (43.5%) had Down syndrome. Some neonates had more than one anomaly. Conclusion: Most neonates suspected to have CHD were referred for echocardiography during the first 24 hours. Heart murmur was the most common indication of referral for echocardiography and most of the cases with CHD and CCHD presented with heart murmur alone. Almost all cases of CCHD were diagnosed within the first 72 hours. The most common CHD was VSD followed by secundum ASD. Down syndrome was the most common congenital anomaly referred for echocardiography and 30% of them have CHD. Bahrain Med Bull 2014; 36(2):86-89

Getting to the Heart of the Matter: Implementing a Critical Congenital Heart Disease (CCHD) Newborn Screening Program Across a Rural Health System

Purpose for the Program Critical congenital heart disease (CCHD) occurs in approximately 8 of 1,000 births. With shorter hospitalization stays, newborns without cardiac anomaly identification before birth may appear healthy during their hospitalization. CCHD may not be identified until the newborn is at home and in distress. Early identification and intervention of CCHD promotes optimal outcome for newborns. A CCHD screening program was implemented for newborns in six obstetric/newborn units across a rural health system before the mandated legislative requirement. Proposed Change To facilitate intervention for those normal appearing newborns with undiagnosed heart defects after birth, a screening protocol before discharge should be implemented by nurses to identify CCHD in newborns who are 24 hours of age. Implementation, Outcomes, and Evaluation An interdisciplinary healthcare team consisting of obstetric/newborn nursing leadership, clinical nurse specialist, respiratory therapy leadership, and neonatology and pediatric cardiology physicians collaborated to develop a specific protocol for CCHD newborn screening. Protocol development was initiated based on recommendations from the United States Secretary of Health and Human Services, the American Academy of Pediatrics, the American Heart Association, the introduction of state legislation for mandated CCHD screening by hospitals, and the evaluation of published evidence that identified the method for CCHD screening. Newborn nursing leadership developed the protocol and presented information for discussion and input to pediatric physicians across six healthcare facilities within the two state health system for adoption. Equipment was identified and acquired for each unit. Electronic health record modification assisted nursing team members to follow the protocol algorithm for accuracy. Nursing and respiratory therapy leadership developed a competency assessment for nursing team members and the comprehensive newborn nursing education plan for implementation. Since implementation in October 2011, approximately 4,700 infants have been screened with one true positive case of CCHD identified and two instances of false positive results where CCHD was ruled out with further testing. The minimal cost of implementation related to supplies and the time spent performing the test (3–4 minutes of nursing time per infant) has resulted in a successful program in which early identification of CCHD improves the outcome for those infants at risk. Implications for Nursing Practice The performance of CCHD screening by nurses facilitates the identification of CCHD in healthy appearing newborns with undiagnosed disease before ductal closure to promote timely intervention and optimal health outcomes. Nurses provide information and education to parents about the screening. Critical congenital heart disease (CCHD) occurs in approximately 8 of 1,000 births. With shorter hospitalization stays, newborns without cardiac anomaly identification before birth may appear healthy during their hospitalization. CCHD may not be identified until the newborn is at home and in distress. Early identification and intervention of CCHD promotes optimal outcome for newborns. A CCHD screening program was implemented for newborns in six obstetric/newborn units across a rural health system before the mandated legislative requirement. To facilitate intervention for those normal appearing newborns with undiagnosed heart defects after birth, a screening protocol before discharge should be implemented by nurses to identify CCHD in newborns who are 24 hours of age. An interdisciplinary healthcare team consisting of obstetric/newborn nursing leadership, clinical nurse specialist, respiratory therapy leadership, and neonatology and pediatric cardiology physicians collaborated to develop a specific protocol for CCHD newborn screening. Protocol development was initiated based on recommendations from the United States Secretary of Health and Human Services, the American Academy of Pediatrics, the American Heart Association, the introduction of state legislation for mandated CCHD screening by hospitals, and the evaluation of published evidence that identified the method for CCHD screening. Newborn nursing leadership developed the protocol and presented information for discussion and input to pediatric physicians across six healthcare facilities within the two state health system for adoption. Equipment was identified and acquired for each unit. Electronic health record modification assisted nursing team members to follow the protocol algorithm for accuracy. Nursing and respiratory therapy leadership developed a competency assessment for nursing team members and the comprehensive newborn nursing education plan for implementation. Since implementation in October 2011, approximately 4,700 infants have been screened with one true positive case of CCHD identified and two instances of false positive results where CCHD was ruled out with further testing. The minimal cost of implementation related to supplies and the time spent performing the test (3–4 minutes of nursing time per infant) has resulted in a successful program in which early identification of CCHD improves the outcome for those infants at risk. The performance of CCHD screening by nurses facilitates the identification of CCHD in healthy appearing newborns with undiagnosed disease before ductal closure to promote timely intervention and optimal health outcomes. Nurses provide information and education to parents about the screening.

False-Negative Pulse Oximetry Screening for Critical Congenital Heart Disease: The Case for Parent Education

The American Academy of Pediatrics recently published evidence-based guidelines for a standardized approach to pulse oximetry as a screening tool for critical congenital heart disease (CCHD). The addition of CCHD screening to the standard newborn examination may lead to earlier detection of CCHD and subsequently decreased morbidity and mortality. We report a case of CCHD with excessive pulmonary blood flow that went undetected during routine newborn screening. Healthcare practitioners and families need to be aware of the limitations of CCHD screening.

Abstract 228: A Cost-effectiveness Analysis Of Universal Pulse Oximetry Screening To Detect Critical Congenital Heart Disease In U.s. Newborns

Background and objective: In 2011, critical congenital heart disease (CCHD) was added to the Recommended Uniform Screening Panel for newborns. Most state legislatures have not yet mandated pulse oximetry screening to detect CCHD, and evidence that the screening is cost-effective might be influential in these decisions. This study aimed to estimate the cost-effectiveness of universal newborn pulse oximetry screening for CCHD in the U.S. from the hospital system perspective. Methods: A model was developed to estimate the direct medical costs and health effects of screening all newborns. The health benefits were the number of timely (prior to birth hospital discharge) detected CCHD and life-years saved with the screening compared to existing practice. The analysis focused on ductal-dependent CCHD lesions amenable to pulse oximetry detection. The time horizon was the neonatal period. Costs were not discounted, though future life-years were discounted at 3%. Model inputs related to the epidemiology of CCHD, treatment outcomes, and efficacy of pulse oximetry screening to detect CCHD were derived from published literature. Results: The cost of screening was an estimated $3.83 per newborn, with an incremental cost of $4,693 per life year gained as a result of the screening. Using current U.S. hospital-based births, it was estimated that 248 more cases of CCHD would be identified at birth hospitals and 110 infant deaths averted annually with universal screening. Conclusion: Pulse oximetry screening is a life-saving program and is cost-effective by usual standards of health economic evaluation. The results of this analysis might contribute to policymakers’ decisions on universal pulse oximetry screening and may inform other stakeholders, including health care systems and payers, about likely budget impacts. Further analyses of CCHD hospitalization and screening costs can improve these model estimates.

Improvement in Antenatal Diagnosis of Critical Congenital Heart Disease Implications for Postnatal Care and Screening

Objective: This observational study was performed to examine the current timing and mode of diagnosis of critical congenital heart disease (CCHD), since early detection of cardiac lesions can significantly improve morbidity and mortality. Method: Ninety cases of CCHD in infants born in Middle Tennessee in 2009 were identified by weekly review of admissions to a single cardiac referral center. CCHD is defined as lesions requiring admission or re-admission for surgical or medical intervention within 1 month of life. Results: Overall, the observed antenatal detection rate of 49% is significantly greater than published values of 25%. Hypoplastic left heart syndrome was detected in 11/11, but only 5/16 coarctations were detected. Conclusion: Compared to earlier reports, our study showed a doubling of the antenatal detection rate. Perhaps efforts to improve early diagnosis of CCHD could focus on antenatal ultrasound screening techniques for lesions that are missed most often as well as on postnatal screening.