Critical Congenital Heart Disease Cases Research Articles

Obstetric imaging practice characteristics associated with prenatal detection of critical congenital heart disease in a rural US region over 20years.

To identify clinical practice characteristics associated with the frequency of prenatal critical congenital heart disease (CCHD) detection (i.e., the number of liveborn infants with postnatally confirmed CCHD identified on prenatal sonography) over 20years in a rural setting comprised of 11 primarily low-volume obstetric hospitals and the single tertiary academic hospital to which they refer. This was a retrospective cohort study of all patients in the referral region with an initial prenatal and/or postnatal diagnosis of CCHD from 01/01/2002 to 12/31/2021. The frequency of prenatal CCHD detection at the time of an obstetric ultrasound was reported, as was the change in detection over time. Critical congenital heart disease detection was assessed as a function of cardiac lesion type, practice setting, and practice characteristics. There were 271 cases with a confirmed postnatal CCHD diagnosis, of which 49% were identified prenatally. The majority of community practices each averaged <10 CCHD cases in total over the study period. Prenatal detection at the tertiary academic hospital's obstetric ultrasound unit was 64%, compared to 22% at the combined referring community practices (p<0.001), though CCHD detection improved over time in both settings. Professional accreditation by the American Institute of Ultrasound in Medicine, image interpretation by radiology or Maternal Fetal Medicine, and use of video clips of ventricular outflow tracts were associated with improved prenatal CCHD detection. Our data demonstrate the infrequency of CCHD cases at small-volume, rural hospitals and the substantial variation in prenatal CCHD detection across practice settings. Our methods allowed for the identification of practice characteristics associated with prenatal CCHD detection.

Critical congenital heart disease: contemporary prenatal screening performance and outcomes in a multi-centre perinatology service

BackgroundPrenatal detection of critical congenital heart disease (CCHD) optimises perinatal decision-making and neonatal outcomes. The objective of this study was to determine the prenatal screening performance, care pathways and perinatal outcomes for prenatally and postnatally diagnosed cases of CCHD over a four-year period.Study designThis retrospective cohort study in a tertiary centre and its two affiliated secondary sites examined all cases of CCHD, including cases of pregnancy termination and in-utero fetal death, neonatal death and liveborn babies that underwent cardiac catheterization or surgery in the first six weeks of life. Prenatal and postnatal data were ascertained from the first trimester assessment for all patients diagnosed prenatally. Cases requiring intervention that were first identified in the postnatal period were included to determine prenatal detection rates. Follow-up for all cases of CCHD continued to one year of age.ResultsIn a consecutive cohort of 49,950 pregnancies in a 4-year period 01/2019 to 12/2022, a prenatal diagnosis of CCHD was made in 96 cases, yielding a prevalence of 1.9 per 1000 births. The prenatal detection for right duct-dependant heart pathology and congenital heart block was 100%, 85% for left duct-dependant pathology and 93% for transposition of the great arteries (TGA). In the prenatally diagnosed group, 37% of cases were complicated by extracardiac structural abnormalities, a genetic diagnosis or both. All cases of prenatal detection were identified in the context of routine anatomy screening rather than specialist Fetal Cardiac screening services. Almost half of all pregnancies complicated by CCHD did not undergo neonatal cardiac intervention, by virtue of parental choice determined either prenatally or after birth. An additional eight babies were diagnosed with CCHD in the neonatal period, such that the prenatal detection rate for CCHD was 92% (96/104, 95% CI = 84%-96%). Survival at 1-year for infants deemed suitable for CCHD surgery was 85%.ConclusionIn a large unselected population, optimal rates of prenatal detection of critical congenital heart disease can be achieved by a protocolised approach to mid-trimester fetal anatomy ultrasound, underpinned by a programme of sonographer education and training. The cardiac abnormalities most likely to evade prenatal detection are left-sided obstructive lesions.

Evaluation of critical congenital heart disease from 2018 to 2020 in Turkey: a retrospective cohort study

BackgroundThe aim of this study is to examine the features of critical congenital heart disease (CCHD).MethodsThe study was planned as a retrospective cohort study. Data for the study were obtained through national data collection systems and 2018–2020 CCHD cohort was established. In this study, we divided the patients into two groups: Group 1 included seven primary target diseases of the newborn CCHD screening program and Group 2 included secondary target diseases.ResultsThere were 9884 CCHD cases, with a prevalence of 27.8 per 10,000 live births. Of the cases 44.4% were in Group 1 (12.3 per 10,000) and 54.8% were in Group 2 (15.2 per 10,000). Of all cases 55.5% were male and the female/male ratio was 1/1.2. While 21.8% of the cases were premature, 23.0% were babies with low birth weight (LBW), 4.8% were born from multiple pregnancies. The highest prevalence of CCHD was found in LBW (84.8 per 10,000), premature infants (57.8 per 10,000) (p < 0.001). The fatality rate in the cohort was 16.6% in the neonatal period, 31.6% in the first year of life respectively. The mean estimated survival time in the birth cohort was 40.0 months (95% CI: 39.5–40.6). The mean survival time for Group 1 diseases was 33.4 months (95% CI: 32.5–34.2), while it was 45.4 months (95% CI: 44.7–46.0) for Group 2 diseases (p < 0.001). Preterm birth, LBW, maternal age and region were evaluated as factors associated with mortality risk.ConclusionThis study showed that CCHDs are common in Turkey and mortality rates are high. There are regional differences in CCHD both prevalence and survival. Improving prenatal diagnosis rates and expanding neonatal CCHD screening are of key importance.

Abstract 18375: Improving Rate of Prenatal Diagnosis of Critical Congenital Heart Disease Despite the Covid19 Pandemic: A Canadian Multiprovincial Study

Background Restriction to travel, reallocation of health resources and physical distancing during the COVID19 pandemic caused extraordinary health system strain, requiring limited tertiary referral acceptance. The overall impact of public health measures during COVID19 on diagnosis of congenital heart disease (CHD) has not been explored. We sought to determine the rate, timing of diagnosis and pregnancy outcomes of critical CHD prior to and during the COVID era. Methods: Cases of CHD with due date/birth date from 1 Jan 2016 to 1 Mar 2022 that required or were anticipated to require neonatal intervention were identified from surgical and referring centres in Ontario and Alberta. Pregnancies were categorized as reaching 18 weeks GA before (pre-COVID) or after 1 March 2020 (COVID). Outcomes included timing of diagnosis (pre/postnatal), GA at prenatal diagnosis, and pregnancy outcome. Data are presented as mean, 95% CI or median (IQR); rank-sum comparison of continuous variables or Chi 2 comparison of proportions were used. Results: Prenatal diagnosis occurred in 1240/1823 (68% (65.8, 70.1)) of cases of critical CHD overall, with a pre-COVID rate of 867/1305 - 66% (64, 69) and COVID rate of 373/518 - 72% (68, 76), p=0.02. During COVID, earlier median GA at obstetric ultrasound (median GA: pre-COVID 20.1 (19.1, 22), COVID 19.9 (19.1,21.3), p=0.025) and diagnosis of CHD (median GA: pre-COVID 21.7 (20.3, 24.3), COVID 21.3 (20,23.3), p=0.006) occurred. Prenatal diagnosis before 22 weeks GA (pre-COVID 449/851, 52.3% vs COVID 219/371, 59%; p=0.043) and termination were more common during COVID (pre-COVID 28% (25,31), COVID 35% (30,40) p=0.015). Conclusion The rate of prenatal diagnosis of critical CHD continued to improve during the COVID pandemic in two of Canada’s largest provinces. Unexpectedly, obstetric ultrasounds occurred earlier, leading to earlier prenatal diagnosis of CHD. These findings may have implications for referral practices in the post-COVID era.

Comparing Strategies for Critical Congenital Heart Disease Newborn Screening.

An extended newborn critical congenital heart disease (CCHD) screening program using oximetry has been implemented in Taipei, Taiwan since April 2014. This study was conducted to investigate the test accuracy and efficiency of this screening protocol. This study analyzed data from 30 birthing facilities representing 87.9% of live births in Taipei. Positive screening was defined as oxygen saturation <95% in either extremity or a preductal-postductal oxygen saturation difference of >3%. This study cohort was used to retrospectively estimate outcomes on the basis of different CCHD screening protocols. During the study period, 93 058 of 94 204 (98.8%) infants who had no prenatal suspicion were screened. The referral rate was 0.17% (156/93 058), and up to 90% of test-positive infants were referred within 48 hours of life. Forty-two CCHD cases without prenatal suspicion were detected and 97.6% were diagnosed within 72 hours of life. Of the screened newborns, 4 CCHD cases passed the screening. The false positive and false negative rates were 0.12% and 0.04%, respectively. In addition, applying our database to Spanish and updated American Academy of Pediatrics screening strategies led to more CCHD case detection. The Taipei protocol provided an efficient and effective screening referral system in a community setting. For optimal efficiency, we advocated the updated American Academy of Pediatrics algorithm/Spanish recommendation with a modification of immediate referral if oxygen saturation ≤90% in either extremity. The updated protocol would be practicable for nationwide screening in Taiwan and could also be applied to other regions with similar medical care systems.

Prevalence and Pattern of Congenital Heart Disease in Pediatric Population—A Study from Central India

Abstract Introduction Prevalence of congenital heart disease (CHD) is variable depending on the region and setting of study ranging from 0.8 to 6/1,000. Age of presentation depends on types of CHD and its severity. Burden of CHD is not known in this tribal belt of Central India. Main objective of this study was to find out prevalence of CHD in children. We have also studied the pattern and age of presentation of various types of CHDs. Methods This retrospective observational study was conducted at tertiary care teaching institute in tribal belt of Central India. Children aged 0 to 15 years reported to pediatric outpatient department (OPD) were included. CHD was confirmed by echocardiography in suspected cases. Prevalence rate was calculated as number of CHDs per 1,000 OPD patients. Pattern of CHD was categorized as per standard guidelines and age-wise presentations of various types of CHD were studied. Results The prevalence rate of CHD in our study population was 27.7/1,000, which is high when compared with most of the other hospital-based studies. Most of the patients, 60.36 and 83.26% were detected before the age of 1 year and 5 years, respectively. All critical CHD cases were detected in early infancy. Conclusion There is a high burden of CHD seen in this study. Possible cause of this may be lack of specialized facility in this reason and study period included first and second wave of COVID. Further, large sample size studies and/or nationwide registry/database are needed to know the exact burden of CHD.

Early versus late diagnosis of critical congenital heart disease at Sanglah Hospital Denpasar, Bali

Background: Critical congenital heart disease (CCHD) remains significant clinical and public health challenge. Risk of morbidity and mortality in CCHD increases when there is a delay in diagnosis and referral to a tertiary center with expertise in treating these patients. In the last few years, pulse oximetry screening for CCHD in newborns has been added to the list of recommended uniform screening panels and advocated by several health-care authorities. Early detection of CCHD by using pulse oxymetry was recommended by American Academy of Pediatrics (AAP), the American Heart Association, and the American College of Cardiology to improve early identification of infants with CCHD. Objective: To describe early versus late diagnosis of critical congenital heart disease (CCHD) at single tertiary center. Methods: A retrospective observational study was conducted in Sanglah Hospital, Bali. Data collected from medical records. Early diagnosis defined as diagnosis which made during prenatal examination or before birth hospital dischare. Late diagnosis defined as diagnosis which made after birth hospital discharge, after 3 days of birth, or even at death. Diagnosis of CCHD was retrieved based on echocardiography examination. Results: From June 2016 to February2020 we found 86 CCHD cases which were tetralogy of Fallot (41 cases), pulmonary atresia (15 cases), transposition of great arteries (14 cases), total anomalous pulmonary venous return (4 cases), tricuspid atresia (3 cases), truncus arteriosus (3 cases), and hypoplastic left heart syndrome (1 case). Only 26% cases of children with CCHD were diagnosed early, mostly came with chief complaint bluish appearance. Range of oxygen saturation at diagnosis varied from 51-90%. Among cases with late diagnosis, the most common defect was tetralogy of Fallot. Most late diagnosed CCHD came because of referral from other hospitals or pediatricians. Conclusion: The rate of delayed CCHD diagnosis still occurs in 74%. Factors that might be contribute to late CCHD diagnosis include certain CCHD types, nontertiary hospital nursery and absence of clinical findings.

203 Racial and ethnic disparities among diagnosed critical congenital heart disease

Critical congenital heart disease (CCHD) is defined as structural disease requiring surgery or catheter intervention during the first 30 days of life, can be diagnosed on prenatal ultrasound. Prenatal diagnosis can reduce morbidity and mortality. The purpose of this study was to determine if race and socioeconomic status (SES) impacts the rate of prenatal diagnosis of CCHD. We conducted a retrospective chart review of neonates at a single, tertiary pediatric cardiology practice from 2007-2018 with a diagnosis of CCHD. Neonates with prenatal diagnosis were compared to neonates diagnosed postnatally by: race/ethnicity, SES and infant mortality. SES was assessed using primary insurance and income quartile by zip code to provide estimated median household income. Seven diagnoses were targeted and divided into three groups based on prenatal ultrasound views that would be expected to make the diagnosis: four chamber, outflow tract, and other views. Data were analyzed using Fisher’s exact test and pairwise comparison if the Fischer’s test was statistically significant. A p-value < 0.05 was statistically significant. We identified 185 cases of CCHD; 102(55.2%) diagnosed prenatally, 83 (44.8%) diagnosed postnatally. Only three ethnic groups had adequate cases for analysis. Rate of prenatal diagnosis did not differ significantly by race/ethnicity (p=0.411) nor did postnatal diagnosis (p=0.499) (Table 1). Rates of prenatal or postnatal diagnosis also did not differ significantly by parental SES income (p=0.706). Infant mortality was higher in Blacks & Hispanics vs. Caucasians (p < 0.001) (Table 1 and 2). Infant mortality prior to 1 year of age was significantly associated with parental SES income: 71% had an annual salary <$50,000 vs. 27% (p <0.001; Table 2). Rate of prenatal detection of CCHD did not differ by race/ethnicity and SES. However, Black and Hispanic neonates had significantly higher infant mortality rates vs. Caucasian neonates. Parental SES was significantly lower in cases of infants who died in the first year of life.View Large Image Figure ViewerDownload Hi-res image Download (PPT)

Germline variants in HEY2 functional domains lead to congenital heart defects and thoracic aortic aneurysms

PurposeIn this study we aimed to establish the genetic cause of a myriad of cardiovascular defects prevalent in individuals from a genetically isolated population, who were found to share a common ancestor in 1728. MethodsTrio genome sequencing was carried out in an index patient with critical congenital heart disease (CHD); family members had either exome or Sanger sequencing. To confirm enrichment, we performed a gene-based association test and meta-analysis in two independent validation cohorts: one with 2685 CHD cases versus 4370 . These controls were also ancestry-matched (same as FTAA controls), and the other with 326 cases with familial thoracic aortic aneurysms (FTAA) and dissections versus 570 ancestry-matched controls. Functional consequences of identified variants were evaluated using expression studies. ResultsWe identified a loss-of-function variant in the Notch target transcription factor-encoding gene HEY2. The homozygous state (n = 3) causes life-threatening congenital heart defects, while 80% of heterozygous carriers (n = 20) had cardiovascular defects, mainly CHD and FTAA of the ascending aorta. We confirm enrichment of rare risk variants in HEY2 functional domains after meta-analysis (MetaSKAT p = 0.018). Furthermore, we show that several identified variants lead to dysregulation of repression by HEY2. ConclusionA homozygous germline loss-of-function variant in HEY2 leads to critical CHD. The majority of heterozygotes show a myriad of cardiovascular defects.

Evaluation of Circulating Cardiovascular Biomarker Levels for Early Detection of Congenital Heart Disease in Newborns in Sweden

Congenital heart disease (CHD) is the most common congenital malformation in humans worldwide. Circulating cardiovascular biomarkers could potentially improve the early detection of CHD, even in asymptomatic newborns. To assess the performance of a dried blood spot (DBS) test to measure the cardiovascular biomarker amino terminal fragment of the prohormone brain-type natriuretic peptide (NT-proBNP) levels in newborns and to compare DBS with standard EDTA analysis in control newborns during the first week of life. This diagnostic study was conducted in a single regional pediatric service in southern Sweden. Healthy, term neonates born between July 1, 2018, and May 31, 2019, were prospectively enrolled and compared against retrospectively identified newborns with CHD born between September 1, 2003, and September 30, 2019. Neonates who required inpatient treatment beyond the standard postnatal care were excluded. New DBS test for NT-proBNP quantification in newborns that used 3 μL of blood vs the current screening standard. Performance of the new test and when combined with pulse oximetry screening was measured by receiver operating characteristic curve analysis. Performance of the new test and EDTA screening was compared using Pearson linear correlation analysis. The DBS samples of 115 neonates (81 control newborns and 34 newborns with CHD, of whom 63 were boys [55%] and the mean [SD] gestational age was 39.6 [1.4] weeks) were analyzed. The new NT-proBNP test alone identified 71% (n = 24 of 34) of all CHD cases and 68% (n = 13 of 19) of critical CHD cases as soon as 2 days after birth. Detection of any CHD type improved to 82% (n = 28 of 34 newborns) and detection of critical CHD improved to 89% (n = 17 of 19 newborns) when combined pulse oximetry screening and NT-proBNP test results were used. Performance of the NT-proBNP test was excellent when control newborns were matched to newborns with CHD born between July 1, 2018, and May 31, 2019 (area under the curve, 0.96; SE, 0.027; 95% CI, 0.908-1.0; asymptotic P < .05). This study found that NT-proBNP assay using minimal DBS samples appears to be timely and accurate in detecting CHD in newborns and to discriminate well between healthy newborns and newborns with various types of CHD. This finding warrants further studies in larger cohorts and highlights the potential of NT-proBNP to improve neonatal CHD screening.

Oxygen saturation and perfusion index screening in neonates at high altitudes: can PDA be predicted?

Screening critical congenital heart disease in neonates with 24-48 h of age could be made by oxygen saturation determination. Perfusion index may be used as an adjunct to pulse oximetry screening to detect non-cyanotic critical congenital heart disease cases such as a left heart outflow obstruction. We evaluate the results of combined screening for oxygen saturation and peripheral perfusion index at high altitudes. The study included 501 neonates older than gestational week 35. The mean oxygen saturation was lower than at sea level, and the screening test was positive in a total of 21 (4.2%) babies. Critical congenital heart diseases were not detected in any patient. A total of 10 (2%) babies were detected with PDA, nine (1.8%) of whom recorded a positive screening test. The prevalence of PDA was significantly higher in the positive screening test group when compared with those who underwent echocardiography due to clinical findings.Conclusion: The median peripheral perfusion index at high altitude was not lower than at sea level, while the mean oxygen saturation, in contrast, was lower than at sea level. The low partial oxygen pressure found at high altitudes leads to a variation in postnatal adaptation and an increased prevalence of PDA. Accordingly, oxygen saturation screening may serve to identify babies with PDA at high altitudes. What is Known: • Oxygen saturation is known to be low at high altitudes, and thus the rates of false positivity are high when screening for critical congenital heart disease. • High altitudes are also associated with an increased prevalence of simple congenital heart disease. What is New: • The peripheral perfusion index at high altitude is not lower than at sea level. • The prevalence of PDA is significantly higher in those with false positive screening results.

Role of pulse oximetry in detecting critical congenital heart disease among newborns delivered at a high altitude setting in Ethiopia.

BackgroundCongenital heart disease is one of the most common birth defects. It is not detected in some newborns until after their hospital discharge. Pulse oximetry (SpO2) screening for critical congenital heart disease (CCHD) is practiced in some settings, mainly based on evidence derived from studies done in lowland areas. This study aimed to assess the role of SpO2 screening performed before discharge in detecting CCHD in our setting (Addis Ababa) which is located at high altitude.MethodsOxygen saturation of 941 apparently healthy term newborns in the nursery unit of St Paul’s Hospital Millennium Medical College located in Addis Ababa, was measured before discharge during the period from January 2018 to July 2018. SpO2 reading ≥95% was taken as a negative screening result. Positive SPO2 was defined as SpO2 <90% in any extremity, or a persistent SpO2 of 90%–94% in both right arm and lower extremity sites on three measurements or a persistent right arm to lower extremity SpO2 difference of >3%. Subsequent confirmatory echocardiography examination was done for those who tested positive during the SpO2 screening test. Data were analyzed using Statistical Package for Social Sciences version 20.0.ResultsA total of 56/941 (6.0%) newborns tested positive during the screening test. Of those 56 cases, subsequent echocardiography examination detected persistent pulmonary hypertension of the newborn (PPHN) in ten (17.9%) cases (subsequently two of them were found to have sepsis), patent ductus arteriosus in eleven (19.6%) cases, and atrial septal defect in two (3.6%) cases. No case of CCHD was detected among the screened newborns.ConclusionSpO2 screening detected non-cardiac causes of hypoxemic illnesses (sepsis and PPHN) which otherwise would have been missed. However, we recommend a larger sample size study to assess the efficacy of SpO2 screening in detecting CCHD in our setting.

Cost-effectiveness analysis of newborn pulse oximetry screening to detect critical congenital heart disease in Colombia

BackgroundIn many countries, economic assessments of the routine use of pulse oximetry in the detection of Critical Congenital Heart Disease (CCHD) at birth has not yet been carried out. CCHDs necessarily require medical intervention within the first months of life. This assessment is a priority in low and medium resource countries. The purpose of this study was to assess the cost-effectiveness (CE) relation of pulse oximetry in the detection of cases of CCHD in Colombia.MethodsA full economic assessment of the cost-effectiveness type was conducted from the perspective of society. A decision tree was constructed to establish a comparison between newborn physical examination plus pulse oximetry, versus physical examination alone, in the diagnosis of CCHDs. The sensitivity and specificity of pulse oximetry were estimated from a systematic review of the literature; to assess resource use, micro-costing analyses and surveys were conducted. The time horizon of the economic evaluation was the first week after birth and until the first year of life. The incremental cost-effectiveness ratio (ICER) was determined and, to control for uncertainty, deterministic and probabilistic sensitivity analysis were made, including the adoption of different scenarios of budgetary impact. All costs are expressed in US dollars from 2017, using the average exchange rate for 2017 [$2,951.15 COP for 1 dollar].ResultsThe costs of pulse oximetry screening plus physical examination were $102; $7 higher than physical examination alone. The effectiveness of pulse oximetry plus the physical examination was 0.93; that is, 0.07 more than the physical examination on its own. The ICER was $100 for pulse oximetry screening; that is, if one wishes to increase 1% the probability of a correct CCHD diagnosis, this amount would have to be invested. A willingness to pay of $26.292 USD (direct medical cost) per probability of a correct CCHD diagnosis was assumed.ConclusionsAt current rates and from the perspective of society, newborn pulse oximetry screening at 24 h in addition to physical examination, and considering a time horizon of 1 week, is a cost-effective strategy in the early diagnosis of CCHDs in Colombia.Trial registration “retrospectively registered”.

Oxygen Saturation and Perfusion Index-Based Enhanced Critical Congenital Heart Disease Screening.

To determine if addition of perfusion index (PIx) to oxygen saturation (SpO2) screening improves detection of critical congenital heart disease (CCHD) with systemic outflow obstruction. We determined screening thresholds for PIx and applied these to a cohort of newborns with and without congenital heart disease (CHD). A total of 123 normal and 21 CHD newborns (including five with critical systemic outflow obstruction) were enrolled. Four of these five critical systemic obstruction subjects passed SpO2-based screen. Four out of these five subjects failed PIx-based screen. The sensitivity for detection of systemic obstruction CCHD when compared with healthy infants increased from 20% (95% confidence interval [CI]: 1-72%) with SpO2 screening alone to 80% (95% CI: 28-100%) with combined SpO2-PIx screen. However, 2.44% of normal infants failed PIx screen. Addition of PIx to SpO2 screening may detect additional cases of CCHD and further research is necessary to come up with optimal screening thresholds.

Assessing the use of pulse oximetry screening for critical congenital heart disease in asymptomatic term newborns

Background: Even though pulse oximetry screening (POS) is widely used for the early detection of critical congenital heart disease (CCHD) in unrecognized newborns, the missing cases of CCHD are still found in our practice. Aims: To evaluate the accuracy of POS for CCHD in asymptomatic term newborns and to identify the missing cases. Subjects and Methods: This retrospective cohort study was performed in asymptomatic term newborns born from June 2016 to September 2017 at Hatyai Hospital. Central electronic medical records (including POS and echocardiograms) during birth hospitalization and subsequent medical records at 6 months after discharge were reviewed. Statistical Analysis Used: The diagnostic accuracy of POS for CCHD was assessed by using sensitivity and specificity (with 95% confidence interval [CI]). Results: A total of 7137 asymptomatic term newborns were enrolled. POS had a sensitivity of 42.86% (95% CI 9.90–81.59) and a specificity of 99.96% (95% CI 99.88–99.99). Nearly 57.14% (4 out of 7 cases of CCHD) constituted secondary target group. All the late diagnoses (3 cases) were of coarctation of the aorta (COA). The mortality rate of late detected CCHD was 33.3%. Conclusions: POS displayed low detection rate in secondary target group, particularly those with COA. POS decreased late detection of CCHD by 57.1%. The mortality rate of COA was high in late detection. It was found that the appropriate time span for POS follow-up should be up to 4 months.

Prevalence of Congenital Heart Disease at Live Birth in China

To investigate the prevalence of congenital heart disease (CHD) in China based on a large prospective multicenter screening study. A total of 122 765 consecutive infants born at 18 hospitals throughout China between August 1, 2011, and November 30, 2012, were included. Cases of CHD were identified by echocardiography, clinical assessment, and telephone follow-up. The overall prevalence of CHD was 8.98 per 1000 live births (critical, 1.46; serious, 1.47; significant, 5.00; nonsignificant, 1.07), including 7.15 in male infants and 11.11 in female infants. The most common CHD was ventricular septal defect (3.3), followed by atrial septal defect (1.7), patent ductus arteriosus (0.78), pulmonary stenosis (0.73), tetralogy of Fallot (0.47), and transposition of the great arteries (0.35). Female predominance was observed for all CHD and mild CHD (significant and nonsignificant), and male predominance was observed for the critical CHDs. The proportion of preterm newborns was substantially higher among the major CHD cases (critical and serious) compared with normal newborns. There were appreciably more low birth weight infants among the critical CHD cases compared with normal newborns. Significantly higher rates of ventricular septal defect and atrioventricular septal defect were found in infants born to mothers aged ≥35 years. Extracardiac anomalies were found in 9.3% of CHD cases. The risk of CHD was increased by approximately 3-fold when a first-degree relative had CHD. Our estimates are concordant with data from Western studies. This screening study may provide more accurate and complete information on the overall prevalence of CHD in China.

Evaluation of Neonates With Suspected Congenital Heart Disease: A New Cost-Effective Algorithm.

We assessed the value of existing guidelines for the evaluation of suspected congenital heart disease (CHD) in term neonates and propose a revised algorithm. Retrospective chart review of newborns referred for cardiac evaluation at a tertiary care center was performed. A total of 777 newborns qualified for the study. Among these, 3 critical and 8 major CHD were identified. The sensitivity of the combination of abnormal physical examination and pulse oximetry screening for major and critical CHD was 100%. The cost to detect a case of critical CHD, based on echocardiograms done for all abnormal electrocardiograms, was 3.4 times more than that incurred for performing this test on the basis of abnormal pulse oximetry and physical examination. Adding electrocardiogram to CHD screening increases cost without adding diagnostic yield. Based on our findings, we propose a revised algorithm for a systematic cost-effective approach to cardiac evaluation of term newborns with suspected CHD.

Survival and Associated Risk Factors for Mortality Among Infants with Critical Congenital Heart Disease in a Developing Country.

Critical congenital heart disease (CCHD) is associated with significant morbidity and mortality. However, data on survival of CCHD and the risk factors associated with its mortality are limited. This study examined CCHD survival and the risk factors for CCHD mortality. Using a retrospective cohort study of infants born with CCHD from 2006 to 2015, survival over 10years was estimated using Kaplan-Meier analysis, and the risk factors for mortality were analyzed using multivariate Cox proportional hazards regression. A total of 491 CCHD cases were included in the study, with an overall mortality rate of 34.8% (95% confidence interval [CI] 30.6-39.2). The intervention/surgical mortality rate was 9.8% ≤ 30days and 11.5% > 30days after surgery, and 17% died before surgery or intervention. The median age at death was 2.7months [first quartile: 1 month, third quartile: 7.3 months]. The CCHD survival rate was 90.4% (95% CI 89-91.8%) at 1 month, 69.3% (95% CI 67.2-71.4%) at 1 year, 63.4% (95% CI 61.1-65.7%) at 5 years, and 61.4% (95% CI 58.9-63.9%) at 10years. Weight of < 2kg at diagnosis, associated syndromes, poor pre-operative condition, and non-duct-dependent CCHD were independent risk factors for poor survival, with hazard ratios of 2.61, 2.10, 2.22, and 1.70, respectively. CCHD is associated with a high mortality rate. Low weight, poor pre-operative condition, associated syndromes, and non-duct-dependent CCHD are significant risk factors affecting the survival of infants with CCHD.

A Modified Algorithm for Critical Congenital Heart Disease Screening Using Pulse Oximetry.

Screening was performed on term infants without a known CCHD diagnosis at or near 24 hours of age at a tertiary birth hospital by using the AAP algorithm from 2013 to 2016. Retrospective review from the birth hospital and the area's sole pediatric cardiac center identified true- and false-positives and true- and false-negatives. A simulation study modeled the results of a modified screening algorithm with a single repeat pulse oximetry test instead of 2. Screening results were collected on 77 148 newborns . By using the current AAP algorithm, 77 114 (99.96%) infants passed screening, 18 infants failed for an initial saturation of <90%, and 16 failed after not attaining a passing pulse oximetry level after 3 tests. There was 1 true-positive (total anomalous pulmonary venous return), 33 false-positives, and 6 false-negatives, yielding an overall specificity of 99.96%, a sensitivity of 14.3%, and a false-positive rate of 0.043%. Among false-positives, 10 (31.3%) had significant non-CCHD disease. Simulating the modified algorithm, sensitivity remained at 14.3%, and the false-positive rate increased to 0.054%. Although CCHD screening in a tertiary care birth hospital may not detect many new cases of CCHD, it can detect other important diseases in newborns. Modifying the screening algorithm to 1 repeat pulse oximetry test instead of 2 may detect additional infants with significant disease without a substantial increase in the false-positive rate.

Revisiting the Approach to Newborn Screening for Critical Congenital Heart Disease.

* Abbreviation: CCHD — : critical congenital heart disease Most state newborn screening programs have adopted the 2011 recommendation from the US Secretary of Health and Human Services to screen newborns for critical congenital heart disease (CCHD) with pulse oximetry.1 The rationale for adding this point-of-care newborn screening test was the ability of hypoxemia to help identify CCHD coupled with the benefit of early intervention. Before the recommendation to add CCHD to newborn screening, an expert panel (of which one author of this commentary [A.R.K.] was a member) developed a consensus algorithm that was subsequently endorsed by the American Academy of Pediatrics and other professional organizations to help with the implementation of CCHD newborn screening.2 Although there is variation in how the algorithm is implemented, most state newborn screening programs recommend an approach similar to this algorithm. The bar for adding a condition to newborn screening is high. Newborn screening has a broad public health reach, and therefore, it must be clear that the benefits far outweigh the harms and that the costs do not limit the availability of other important public health services. Did the recommendation to add CCHD to newborn screening meet this bar? The article by Diller et al3 in this issue of Pediatrics could be interpreted to suggest that the number of CCHD cases detected are so few as to not warrant universal screening. This retrospective study of >77 000 infants born at 1 hospital … Address correspondence to Alex R. Kemper, MD, MPH, MS, Division of Ambulatory Pediatrics, Nationwide Children’s Hospital, 700 Children’s Dr, LAC5411, Columbus, OH 43205. E-mail: alex.kemper{at}nationwidechildrens.org