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As survivors of early cardiac surgery are at high risk of neurodevelopmental impairments, systematic health observations of children with critical congenital heart disease (CCHD) throughout childhood are recommended to enable early diagnosis and offer interventions to optimize neurodevelopment. A qualitative study using thematic analysis was performed to explore parents' concerns, experiences, and needs regarding the development and received developmental care of their child (0–10 years) during hospital admission and beyond. Data were collected using semi-structured online interviews with 20 parents of children with CCHD. Four major themes were identified: (1) "impact of diagnosis and disease on the family-system," (2) "parental concerns from diagnoses and beyond," (3) "the need for information," and (4) "the need for individualized and family-centered care." The main themes can be divided into 13 sub-themes as impact, concerns, and needs are influenced by various impactful moments from diagnosis and afterwards. Conclusion: This study confirms the importance of early identification of neurodevelopmental problems by experienced healthcare professionals, especially in the early years when parental expectations and concerns about their child's neurodevelopment are lower. A tailor-made family-centered follow-up program should be offered, which pays attention to both the neurodevelopment of patients with CCHD as well as the mental wellbeing of the entire family system. Furthermore, an online portal is recommended with a variety of reliable, controlled, understandable information from which parents can obtain the desired information to understand better the consequences of specific heart condition and to provide their child with the best possible guidance. What is Known: • Survivors of early cardiac surgery are at high risk of neurodevelopmental impairments; systematic health observations of children with CCHD throughout childhood are strongly recommended. What is New: • Parents need a tailor-made family-centered follow-up program, which pays attention to both the neurodevelopment of patients with CCHD as well as the mental wellbeing of the entire family system. • An online portal offering diverse, trustworthy information and sources would effectively meet parents' needs by providing accessible insights into the potential consequences of specific heart conditions and guiding them in supporting their child optimally. [ABSTRACT FROM AUTHOR]

Objectives: In this literature review, we describe the progress of Indonesia's NBS program (which is heavily centered on CH screening), its current pilot projects, and what lies ahead for this program. Setting: Since its conception began with congenital hypothyroidism (CH) screening, Indonesia has experienced plodding progress in NBS. There is a shortage of literature discussing the history, or the lack of, and journey of NBS in Indonesia. Methods: We searched for literature in Pubmed and Google Scholar with keywords such as “Newborn Screening, “Neonatal Screening,'' “Indonesia,'' “Asia Pacific,'' “Congenital Hypothyroidism,'' “Congenital Adrenal Hyperplasia,””Critical Congenital Heart Disease,” “Hearing Loss,” and “Inborn Error of Metabolism.” Results: The only mandatory and regulated NBS program in Indonesia is congenital hypothyroid (CH) screening, with some pilot projects being conducted on screening for congenital adrenal hyperplasia (CAH), critical congenital heart disease (CCHD), hearing loss, and to a lesser extent, inborn error of metabolisms (IEMs). Conclusion: Despite the evidence and benefits, the government does not mandate or regulate newborn diseases such as CHD, CAH, hearing loss, and IEMs. The lack of regulation exists despite multiple pilot projects and studies showing a benefit in at least trying to screen newborns for those conditions.

Abstract Background The aim of this study was to examine the characteristics of infant mortality associated with critical congenital heart disease (CCHD). Methods In a cross-sectional study, data for the study were obtained through Death Notification System, Birth Notification System and Turkish Statistical Institute birth statistics. Results Of all infant deaths, 9.8% (4083) were associated with CCHD, and the infant mortality rate specific to CCHD was 8.8 per 10,000 live births. CCHD-related infant deaths accounted for 8.0% of all neonatal deaths, while the CCHD specific neonatal death rate was 4.6 per 10,000 live births. Of the deaths 21.7% occurred in the early neonatal, 30.3% in the late neonatal and 48.0% in the post neonatal period. Group 1 diseases accounted for 59.1% (n = 2415) of CCHD related infant deaths, 40.5% (n = 1652) were in Group 2 and 0.4% (n = 16) were in the unspecified group. Hypoplastic left heart syndrome was the most common CCHD among infant deaths (n = 1012; 24.8%). The highest CCHD related mortality rate was found in infants with preterm birth and low birth-weight while multiparity, maternal age ≥ 35 years, twin/triplet pregnancy, male gender, maternal education in secondary school and below, and cesarean delivery were also associated with higher CCHD related infant mortality rate. There was at least one non-cardiac congenital anomaly/genetic disorder in 26.1% of all cases. Conclusion CCHD holds a significant role in neonatal and infant mortality in Türkiye. To mitigate CCHD-related mortality rates, it is crucial to enhance prenatal diagnosis rates and promote widespread screening for neonatal CCHD.

Abstract Background Prenatal 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 design This 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. Results In 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%. Conclusion In 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.

Background: Prenatal 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 design: This 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. Results: In 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%. Conclusion: In 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. [ABSTRACT FROM AUTHOR]

Background: The aim of this study was to examine the characteristics of infant mortality associated with critical congenital heart disease (CCHD). Methods: In a cross-sectional study, data for the study were obtained through Death Notification System, Birth Notification System and Turkish Statistical Institute birth statistics. Results: Of all infant deaths, 9.8% (4083) were associated with CCHD, and the infant mortality rate specific to CCHD was 8.8 per 10,000 live births. CCHD-related infant deaths accounted for 8.0% of all neonatal deaths, while the CCHD specific neonatal death rate was 4.6 per 10,000 live births. Of the deaths 21.7% occurred in the early neonatal, 30.3% in the late neonatal and 48.0% in the post neonatal period. Group 1 diseases accounted for 59.1% (n = 2415) of CCHD related infant deaths, 40.5% (n = 1652) were in Group 2 and 0.4% (n = 16) were in the unspecified group. Hypoplastic left heart syndrome was the most common CCHD among infant deaths (n = 1012; 24.8%). The highest CCHD related mortality rate was found in infants with preterm birth and low birth-weight while multiparity, maternal age ≥ 35 years, twin/triplet pregnancy, male gender, maternal education in secondary school and below, and cesarean delivery were also associated with higher CCHD related infant mortality rate. There was at least one non-cardiac congenital anomaly/genetic disorder in 26.1% of all cases. Conclusion: CCHD holds a significant role in neonatal and infant mortality in Türkiye. To mitigate CCHD-related mortality rates, it is crucial to enhance prenatal diagnosis rates and promote widespread screening for neonatal CCHD. [ABSTRACT FROM AUTHOR]

Purpose: Transport of neonates with critical congenital heart disease (CCHD) necessitates professional and experienced staff and, well-equipped facilities for both the procedure and post-operative care. In this study, we aimed to evaluate the effect of transport on operation time and survival in neonates with CCHD and determine the relationship between transport characteristics and clinical status. Materials and Methods: A retrospective cross-sectional cohort study was conducted on all infants with CCHD who were transported to a university hospital between January 1, 2019 and December 31, 2019. Transport characteristics such as transport distance, accompanying healthcare provider, vital signs, oxygen saturation levels, prostaglandin E1 (PGE) use, and respiratory support were recorded. The effects of transport characteristics on surgery time, complications, and mortality were analyzed. The Society of Thoracic Surgeons-European Association for Cardio-Thoracic Surgery (STAT) Score was used to analyze mortality-related risks for congenital heart disease. They were compared with inborn newborns with CCHD. Results: A total of 55 patients with CCHD were evaluated. Thirty-one newborns (56.4%) were inborn (Inborn group), and 24 newborns (43.6%) were transferred from another center (Outborn group). There was no difference between the groups in terms of gender, gestational age, birth weight, pre-operative time, and hospital stay. Although the Outborn group had fewer STAT Score categories, there was no difference in the 30-day survival or mortality rates. In the Outborn group, five patients (20.8%) with duct-dependent CCHD were transported without PGE treatment and six ductdependent (25%) patients received oxygen during transport inappropriately. Conclusion: The administration of PGE and oxygen therapies to specific transported infants was inappropriate. Therefore, referral or transport team members should be familiar infants with CCHD. The impact of transport on surgical timing did not yield a significant effect. However, similar mortality rates were observed in both groups, despite the Outborn group demonstrating lower STAT scores. This may indicate the significance of referring intrauterine transportation to experienced cardiovascular centers. [ABSTRACT FROM AUTHOR]

Background: Newborns with a critical congenital heart disease left undiagnosed and untreated have a substantial risk for serious complications and subsequent failure to thrive. Prenatal ultrasound screening is not widely available, nor is postnatal echocardiography. Physical examination is the standard for postnatal screening. Pulse oximetry has been proposed in numerous studies as an alternative screening method. This systematic review and meta-analysis aims to determine the diagnostic accuracies of both screening methods separately and combined. Methods: A systematic literature search of the Embase, PubMed, and Global Health databases up to 30 November 2023 was conducted with the following keywords: critical congenital heart disease, physical examination, clinical scores, pulse oximetry, and echocardiography. The search included all studies conducted in the newborn period using both physical examination and pulse oximetry as screening methods and excluded newborns admitted to the intensive care unit. All studies were assessed for risk of bias and applicability concerns using the QUADAS-2 score. The review adhered to the PRISMA 2020 statement guideline. Results: Out of 2711 articles, 20 articles were selected as eligible for meta-analysis. Cumulatively, the sample included 872,549 screened newborns. The pooled sensitivity of the physical examination screening method was found to be 0.69 (0.66–0.73 (95% CI)) and specificity was found to be 0.98 (0.98–0.98). For the pulse oximetry screening method, the pooled sensitivity and specificity yielded 0.78 (0.75–0.82) and 0.99 (0.99–0.99), respectively. The combined method of screening yielded improved diagnostic characteristics at a sensitivity and specificity of 0.93 (0.91–0.95) and 0.98 (0.98–0.98, respectively. Conclusions: The evidence indicates that combining both physical examination and pulse oximetry to screen for critical congenital heart disease exceeds the accuracy of either separate method. The main limitation is that solely newborns with suspected critical congenital heart disease were subjected to the reference standard. We recommend adapting both methods to screen for critical congenital heart diseases, especially in settings lacking standard fetal ultrasound screening. To increase the sensitivity further, we recommend increasing the screening time window and employing the peripheral perfusion index. [ABSTRACT FROM AUTHOR]

Background Oxygen saturation (Spo2) screening has not led to earlier detection of critical congenital heart disease (CCHD). Adding pulse oximetry features (ie, perfusion data and radiofemoral pulse delay) may improve CCHD detection, especially coarctation of the aorta (CoA). We developed and tested a machine learning (ML) pulse oximetry algorithm to enhance CCHD detection. Methods and Results Six sites prospectively enrolled newborns with and without CCHD and recorded simultaneous pre‐ and postductal pulse oximetry. We focused on models at 1 versus 2 time points and with/without pulse delay for our ML algorithms. The sensitivity, specificity, and area under the receiver operating characteristic curve were compared between the Spo2‐alone and ML algorithms. A total of 523 newborns were enrolled (no CHD, 317; CHD, 74; CCHD, 132, of whom 21 had isolated CoA). When applying the Spo2‐alone algorithm to all patients, 26.2% of CCHD would be missed. We narrowed the sample to patients with both 2 time point measurements and pulse‐delay data (no CHD, 65; CCHD, 14) to compare ML performance. Among these patients, sensitivity for CCHD detection increased with both the addition of pulse delay and a second time point. All ML models had 100% specificity. With a 2‐time‐points+pulse‐delay model, CCHD sensitivity increased to 92.86% (P=0.25) compared with Spo2 alone (71.43%), and CoA increased to 66.67% (P=0.5) from 0. The area under the receiver operating characteristic curve for CCHD and CoA detection significantly improved (0.96 versus 0.83 for CCHD, 0.83 versus 0.48 for CoA; both P=0.03) using the 2‐time‐points+pulse‐delay model compared with Spo2 alone. Conclusions ML pulse oximetry that combines oxygenation, perfusion data, and pulse delay at 2 time points may improve detection of CCHD and CoA within 48 hours after birth. Registration URL: https://www.clinicaltrials.gov/study/NCT04056104?term=NCT04056104&rank=1; Unique identifier: NCT04056104.

Fetal cardiac intervention (FCI) is an emerging and rapidly advancing group of interventions designed to improve outcomes for fetuses with cardiovascular disease. Currently, FCI is comprised of pharmacologic therapies (e.g., trans-placental antiarrhythmics for fetal arrhythmia), open surgical procedures (e.g., surgical resection of pericardial teratoma), and catheter-based procedures (e.g., fetal aortic valvuloplasty for aortic stenosis). This review focuses on the rationale, criteria for inclusion, technical details, and current outcomes of the three most frequently performed catheter-based FCI procedures: (1) aortic valvuloplasty for critical aortic stenosis (AS) associated with evolving hypoplastic left heart syndrome (HLHS), (2) atrial septal intervention for HLHS with severely restrictive or intact atrial septum (R/IAS), and (3) pulmonary valvuloplasty for pulmonary atresia with intact ventricular septum (PA/IVS).

Background: Trajectories of pulse oxygen saturation (SpO2) within the first few days after birth are important to inform the strategy for identifying asymptomatic hypoxemic disease but remain poorly substantiated at higher altitudes. Methods: We performed a longitudinal cohort study with consecutive neonates at a local hospital in Luchun County, China, at an altitude of 1650 m between January and July 2020. We repeatedly measured the pre- and post-ductal SpO2 values at 6, 12, 18, 24, 36, 48, and 72 hours after birth for neonates without oxygen supplements. All neonates underwent echocardiography and were followed up to 42 days after discharge. We included neonates without hypoxemic diseases to characterize the trajectories of SpO2 over time using a linear mixed model. We considered the 2.5th percentile as the reference value to define hypoxemic conditions. Results: A total of 1061 neonates were enrolled. Twenty-five had non-cardiac hypoxemic diseases, with 84% (21/25) presenting with abnormal SpO2 within 24 hours. One had tetralogy of Fallot identified by echocardiography. Among the 1035 asymptomatic neonates, SpO2 values declined from 6 hours after birth, reached a nadir at 48 hours, and tended to level off thereafter, with identical patterns for both pre- and post-ductal SpO2. The reference percentile was 92% for both pre- and post-ductal SpO2 and was time independent. Conclusions: A decline within 48 hours features SpO2 trajectories within the first 72 hours at moderate altitude. Our findings suggest that earlier screening may favorably achieve a benefit–risk balance in identifying asymptomatic hypoxemic diseases in this population. [ABSTRACT FROM AUTHOR]

Abstract Purpose To conduct a retrospective evaluation of a large clinical implementation of combined pulse oximeter (POX) and cardiac auscultation as a fast-screening device for congenital heart disease (CHD). Methods Every newborn in a large maternity healthcare center received auscultation and POX screening within 24 hours after delivery. When an abnormal heart murmur or SpO2 level was detected, an echocardiogram was ordered to confirm the diagnosis of CHD. Results From January 1, 2018 to December 31, 2019, there were 44,147 livebirths at the studied hospital where 498 suspected CHD were identified: 27 newborns by POX screening and 471 by cardiac auscultation. The diagnosis was further confirmed in 458 neonates through echocardiogram. This result put forth an overall diagnosis rate of 92.0%. Cardiac auscultation detected the majority of CHD cases 438 (95.6%) while POX only screened 20 (4.4%) cases. Interestingly, no CHD case was detected by both auscultation examination and POX screening. Auscultation detected most of the common types of CHD, but POX excelled in identifying rare and critical cases. POX screening alone had a very low accuracy of 74.07% in positive predict value (PPV). On the other hand, auscultation functioned well in terms of PPV and negative predict value (NPV) (92.99 and 99.95%, respectively), but the addition of POX improved the overall screening performance resulting in 100% NPV. We also validate the finding with the data 6 months after the study period. Conclusion Our study demonstrated that addition of pulse oximetry to routine cardiac auscultation could be used as an accurate and feasible screening for early screening of CHD in newborns in large-scale clinical practice.

We evaluated the association between implementation of state-mandated pulse oximetry screening (POS) and rates of emergency hospitalizations among infants with Critical Congenital Heart Disease (CCHD) and assessed differences in that association across race/ethnicity. We hypothesized that emergency hospitalizations among infants with CCHD decreased after implementation of mandated POS and that the reduction was larger among racial and ethnic minorities compared to non-Hispanic Whites. We utilized statewide inpatient databases from Arizona, California, Kentucky, New Jersey, New York, and Washington State (2010–2014). A difference-in-differences model with negative binomial regression was used. We identified patients with CCHD whose hospitalizations between three days and three months of life were coded as "emergency" or "urgent" or occurred through the emergency department. Numbers of emergency hospitalizations aggregated by month and state were used as outcomes. The intervention variable was an implementation of state-mandated POS. Difference in association across race/ethnicity was evaluated with interaction terms between the binary variable indicating the mandatory policy period and each race/ethnicity group. The model was adjusted for state-specific variables, such as percent of female infants and percent of private insurance. We identified 9,147 CCHD emergency hospitalizations. Among non-Hispanic Whites, there was a 22% (Confidence Interval [CI] 6%–36%) decline in CCHD emergency hospitalizations after implementation of mandated POS, on average. This decline was 65% less among non-Hispanic Blacks compared to non-Hispanic Whites. Our study detected an attenuated association with decreased number of emergency hospitalizations among Black compared to White infants. Further research is needed to clarify this disparity. [ABSTRACT FROM AUTHOR]

Background Low 5‐minute Apgar scores (AS) are predictive of term and preterm neonatal mortality but have not been well studied in the critical congenital heart disease (CCHD) population. We analyzed US national vital statistics data to evaluate the association between neonatal depression (AS 0–3) and 1‐year mortality in CCHD. Methods and Results We performed a retrospective cohort study using 2014 to 2018 Centers for Disease Control and Prevention cohort‐linked birth certificate and infant death records. Five‐minute AS were categorized as ≤3, 4 to 6, or ≥7. We calculated birth rates and associated mortality rates by AS group in infants with and without CCHD. Multivariable logistic regression analyzed neonatal, maternal, and pregnancy‐related risk factors for neonatal depression and 1‐year mortality. Of 11 642 neonates with CCHD (0.06% of all births), the 5.8% with AS 0 to 3 accounted for 23.3% of all 1‐year CCHD mortality, with 69.9% of deaths occurring within 1 month of life. Gestational age at birth, growth restriction, extracardiac defects, race, and low maternal education were associated with an increased odds of AS 0 to 3 in neonates with CCHD relative to those with AS 7 to 10 on multivariable analysis. AS 0 to 3 was associated with 1‐year CCHD mortality after adjusting for these factors, prenatal care, and delivery location (adjusted odds ratio, 14.57 [95% CI, 11.73–18.10]). Conclusions The AS is a routine clinical measure providing important prognostic information in CCHD. These findings suggest that prenatal and perinatal factors, beyond those included in current risk stratification tools, are important for CCHD outcomes. Multidisciplinary collaboration to understand the pathophysiology underlying neonatal depression may help identify interventions to improve CCHD mortality rates.

Background: Newborns with a critical congenital heart disease left undiagnosed and untreated have a substantial risk for serious complications and subsequent failure to thrive. Prenatal ultrasound screening is not widely available, nor is postnatal echocardiography. Physical examination is the standard for postnatal screening. Pulse oximetry has been proposed in numerous studies as an alternative screening method. This systematic review and meta-analysis aims to determine the diagnostic accuracies of both screening methods separately and combined. Methods: A systematic literature search of the Embase, PubMed, and Global Health databases up to 30 November 2023 was conducted with the following keywords: critical congenital heart disease, physical examination, clinical scores, pulse oximetry, and echocardiography. The search included all studies conducted in the newborn period using both physical examination and pulse oximetry as screening methods and excluded newborns admitted to the intensive care unit. All studies were assessed for risk of bias and applicability concerns using the QUADAS-2 score. The review adhered to the PRISMA 2020 statement guideline. Results: Out of 2711 articles, 20 articles were selected as eligible for meta-analysis. Cumulatively, the sample included 872,549 screened newborns. The pooled sensitivity of the physical examination screening method was found to be 0.69 (0.66–0.73 (95% CI)) and specificity was found to be 0.98 (0.98–0.98). For the pulse oximetry screening method, the pooled sensitivity and specificity yielded 0.78 (0.75–0.82) and 0.99 (0.99–0.99), respectively. The combined method of screening yielded improved diagnostic characteristics at a sensitivity and specificity of 0.93 (0.91–0.95) and 0.98 (0.98–0.98, respectively. Conclusions: The evidence indicates that combining both physical examination and pulse oximetry to screen for critical congenital heart disease exceeds the accuracy of either separate method. The main limitation is that solely newborns with suspected critical congenital heart disease were subjected to the reference standard. We recommend adapting both methods to screen for critical congenital heart diseases, especially in settings lacking standard fetal ultrasound screening. To increase the sensitivity further, we recommend increasing the screening time window and employing the peripheral perfusion index.

Abstract Background Screening of critical congenital heart disease (CCHD) using pulse oximetry is a routine procedure in many countries, but not in Indonesia. This study aimed to evaluate the feasibility of implementing CCHD screening with pulse oximetry for newborns in Yogyakarta, Indonesia. Methods A cross-sectional study was conducted at four hospitals in Yogyakarta, Indonesia. Newborns aged 24–48 hours who met the inclusion criteria were screened on the right hand and left or right foot using a pulse oximeter. Positive results were indicated by: either (1) SpO2 level 3% between the upper and lower extremity on three measurements conducted 1 hour apart. Positive findings were confirmed by echocardiography. Results Of 1452 newborns eligible for screening, 10 had positive results and were referred for echocardiographic evaluation. Of those, 8 (6 per 1000 live birth, 8/1452) had CCHD. Barriers found during screening processes were associated with hospital procedures, equipment, healthcare personnel, and condition of the newborn. Conclusion Pulse oximetry screening might be feasible to be implemented within the routine newborn care setting for CCHD in Indonesia. In order to successfully implement pulse oximetry screening to identify CCHD in Indonesia, the barriers will need to be addressed.

Abstract Background Almost eight children per 1000 live births are expected to have a congenital heart defect globally. The seven most critical congenital heart conditions that cause severe compromise on the patient’s quality and duration of life are collectively referred to as the Critical Congenital Heart Diseases (CCHD). CCHD is a critical condition that requires prompt detection and intervention as a life-saving measure. Pulse oximetry is a non-invasive, highly specific, and moderately sensitive method that can be used for screening new-borns for CCHD. The Emirates Health Services (EHS), UAE, adopted a strategy of developing a stringent program for newborn screening of Critical Congenital Heart disease, which would help in the early diagnosis and treatment of CCHD patients. An automated EMR (Wareed) driven solution was introduced to enhance this program as part of the routine workflow for the nurse care providers. Methods Our study is a retrospective observational study that aims to understand: the prevalence of CCHD in our target population and to study the impact of an automated program on screening compliance and its implications for early diagnosis of CCHD. Results We found that an EMR-driven automated screening program was highly effective in achieving high compliance (98.9%). It created a (statistically significant) improvement in the disease identification for CCHD in live births at EHS facilities. Conclusion We conclude that implementing an automated protocol through the EMR can effectively improve new-born screening coverage. It reduces the days to CCHD diagnosis, which would improve health outcomes in neonates.

Introduction:The early diagnosis and treatment of critical congenital heart diseases (CCHD), which require surgery or intervention during the 1st year of life, is an important issue. Screening of CCHD with pulse oximetry increases early diagnosis rates. Therefore, our study aimed to evaluate the results of CCHD screening with pulse oximetry among babies born in our hospital.Methods:The results of the CCHD screening with pulse oximetry of the babies with a gestational age of ≥34 weeks that were born in our hospital between January 1, 2018, and December 31, 2020, were retrospectively evaluated.Results:Among the 14,766 babies born during the study period, the screening results of 11,892 babies were evaluated; 5,826 of whom were female (48.9%), and 6,066 (51.1%) were male. The number of babies who passed the screening test was 11,871 (99.8%), whereas 21 (0.2%) failed. Among 21 babies who failed the screening test and were evaluated by echocardiography, 7 (33.3%) babies were found to have CCHD. Preductal and postductal saturation values were found to be significantly lower in patients with the positive screening test and in whom CCHD was detected, compared with those without CCHD.Conclusion:Early diagnosis of CCHD before discharge is possible with pulse oximetry screening. Better prognosis and lower mortality rates are targeted with early diagnosis in these babies. Therefore, arrangements should be made for the screening of all newborn babies with pulse oximetry.

Neurodevelopmental disabilities are common in infants with critical congenital heart disease (CCHD). A prospective, longitudinal cohort study was conducted to establish the prevalence and early determinants of adverse motor outcomes in infants who underwent cardiac surgery with cardiopulmonary bypass before six months of age. Motor development was assessed in 147 preschoolers using the Movement Assessment Battery for children-II. Although the majority displayed an average motor development, 22% of preschool children with CCHD deteriorated in their motor developmental score compared to their previous assessment at 18 months, especially in those with an aortic arch anomaly (AAA) (35%). Individual stability over time appeared to be moderate and the number of children with a motor delay increased, up to 20% in children with AAA. Motor development up to 42 months was best predicted by gestational age, cardio pulmonary bypass time, aortic cross clamp time, number of heart catheterizations up to 18 months and early motor outcomes. The increase in number of preschool children with a motor delay underlines the importance of longitudinal screening of motor skills in children with CCHD at risk for adverse motor outcomes. Offering early interventions may protect their current and future cardiovascular health as motor development is an independent predictor of exercise capacity, physical activity and participation in daily living. [ABSTRACT FROM AUTHOR]

Purpose: To conduct a retrospective evaluation of a large clinical implementation of combined pulse oximeter (POX) and cardiac auscultation as a fast-screening device for congenital heart disease (CHD).Methods: Every newborn in a large maternity healthcare center received auscultation and POX screening within 24 hours after delivery. When an abnormal heart murmur or SpO2 level was detected, an echocardiogram was ordered to confirm the diagnosis of CHD.Results: From January 1, 2018 to December 31, 2019, there were 44,147 livebirths at the studied hospital where 498 suspected CHD were identified: 27 newborns by POX screening and 471 by cardiac auscultation. The diagnosis was further confirmed in 458 neonates through echocardiogram. This result put forth an overall diagnosis rate of 92.0%. Cardiac auscultation detected the majority of CHD cases 438 (95.6%) while POX only screened 20 (4.4%) cases. Interestingly, no CHD case was detected by both auscultation examination and POX screening. Auscultation detected most of the common types of CHD, but POX excelled in identifying rare and critical cases. POX screening alone had a very low accuracy of 74.07% in positive predict value (PPV). On the other hand, auscultation functioned well in terms of PPV and negative predict value (NPV) (92.99 and 99.95%, respectively), but the addition of POX improved the overall screening performance resulting in 100% NPV. We also validate the finding with the data 6 months after the study period.Conclusion: Our study demonstrated that addition of pulse oximetry to routine cardiac auscultation could be used as an accurate and feasible screening for early screening of CHD in newborns in large-scale clinical practice. [ABSTRACT FROM AUTHOR]

Background: Almost eight children per 1000 live births are expected to have a congenital heart defect globally. The seven most critical congenital heart conditions that cause severe compromise on the patient's quality and duration of life are collectively referred to as the Critical Congenital Heart Diseases (CCHD). CCHD is a critical condition that requires prompt detection and intervention as a life-saving measure. Pulse oximetry is a non-invasive, highly specific, and moderately sensitive method that can be used for screening new-borns for CCHD. The Emirates Health Services (EHS), UAE, adopted a strategy of developing a stringent program for newborn screening of Critical Congenital Heart disease, which would help in the early diagnosis and treatment of CCHD patients. An automated EMR (Wareed) driven solution was introduced to enhance this program as part of the routine workflow for the nurse care providers.Methods: Our study is a retrospective observational study that aims to understand: the prevalence of CCHD in our target population and to study the impact of an automated program on screening compliance and its implications for early diagnosis of CCHD.Results: We found that an EMR-driven automated screening program was highly effective in achieving high compliance (98.9%). It created a (statistically significant) improvement in the disease identification for CCHD in live births at EHS facilities.Conclusion: We conclude that implementing an automated protocol through the EMR can effectively improve new-born screening coverage. It reduces the days to CCHD diagnosis, which would improve health outcomes in neonates. [ABSTRACT FROM AUTHOR]

Introduction: The early diagnosis and treatment of critical congenital heart diseases (CCHD), which require surgery or intervention during the 1st year of life, is an important issue. Screening of CCHD with pulse oximetry increases early diagnosis rates. Therefore, our study aimed to evaluate the results of CCHD screening with pulse oximetry among babies born in our hospital. Methods: The results of the CCHD screening with pulse oximetry of the babies with a gestational age of ≥34 weeks that were born in our hospital between January 1, 2018, and December 31, 2020, were retrospectively evaluated. Results: Among the 14,766 babies born during the study period, the screening results of 11,892 babies were evaluated; 5,826 of whom were female (48.9%), and 6,066 (51.1%) were male. The number of babies who passed the screening test was 11,871 (99.8%), whereas 21 (0.2%) failed. Among 21 babies who failed the screening test and were evaluated by echocardiography, 7 (33.3%) babies were found to have CCHD. Preductal and postductal saturation values were found to be significantly lower in patients with the positive screening test and in whom CCHD was detected, compared with those without CCHD. Conclusion: Early diagnosis of CCHD before discharge is possible with pulse oximetry screening. Better prognosis and lower mortality rates are targeted with early diagnosis in these babies. Therefore, arrangements should be made for the screening of all newborn babies with pulse oximetry. [ABSTRACT FROM AUTHOR]

Introduction: Screening for Congenital Heart Diseases (CHD) depends on the antenatal ultrasonography and clinical examination of the newborn, however both these methods have low detection rates and often life-threatening congenital heart diseases are missed. Pulse Oximetry (PO) is an easy, accurate, rapid, non invasive method of detecting hypoxaemia. The purpose of using PO to identify Critical Congenital Heart Disease (CCHD) is that clinically non detectable minimal hypoxaemia can be detected by pulseoximetry. Aim: To study the accuracy of pulse oxymetry as a screening tool for early detection of critical congenital heart diseases in asymptomatic newborns. Materials and Methods: This cross-sectional study was conducted in the Department of Paediatrics and the Postnatal Ward of Obstetrics and Gynaecology at Sri Venkateswara Medical College, Tirupathi, Andhra Pradesh, India, from January 2017 to December 2020. All the term asymptomatic newborns of age more than 24 hours were screened using PO. Screening was positive if a: PO was <90% in right hand or foot at any stage of screening, b was 90% to <95% on both; there was >3% absolute difference in oxygen saturation between the right hand and foot on three consecutive measures (each separated by one hour). All the screen positive babies were subjected to 2D echocardiography. All statistical analyses were performed using OpenEpi website epicalculator, and Chi-square's test was used to calculate the p-value. Results: The mean gestational age (weeks) was 38±4 days. Out of 14,400, PO screening was positive in 45 babies, and subsequent echocardiography detected CHD in 30 babies. The sensitivity was 66.67%, positive predictive value was 66.67%, negative predictive value was 99.90%, with a diagnostic accuracy of 99.79%. On 2D electrocardiography, 30 were true positive cases, whereas, false positives and false negatives were 15 each. Remaining 14340 newborns were true negatives. Conclusion: Pulse oximetry is a safe, accessible, feasible test that can be used for early detection of CCHD's that are often undetected on antenatal ultrasonography. [ABSTRACT FROM AUTHOR]

Infants with critical congenital heart defects (CCHDs) are at increased risk for neurodevelopmental delays. The early identification of motor delays is clinically relevant to prevent or reduce long-term consequences. The current study aims to describe the motor-developmental pathways of infants with a CCHD. Motor development was assessed in 215 infants and toddlers using the Dutch version of the Bayley-III. At 3 months (n = 165), 9 months (n = 188), and 18 months (n = 171) the motor composite scores were 97, 98, and 104, respectively. A motor composite score of ≤−2 SD was only seen in 2.4%, 0%, and 2.3%, respectively, with gross motor deficits being observed more often than fine motor deficits (12% vs. 0% at 18 months). Over 90% of infants who scored average at 9 months still did so at 18 months. The majority of infants with below-average gross motor scores (≤−1) at 9 months still had a below-average or delayed motor score (≤−2 SD) at 18 months. Abnormal gross motor scores (≤−2 SD) increased with age. Infants with single-ventricle physiology performed significantly (p ≤ 0.05) worse on both fine and gross motor skills at 9 and 18 months compared to infants with other CCHDs. [ABSTRACT FROM AUTHOR]

Introduction: Screening for Congenital Heart Diseases (CHD) depends on the antenatal ultrasonography and clinical examination of the newborn, however both these methods have low detection rates and often life-threatening congenital heart diseases are missed. Pulse Oximetry (PO) is an easy, accurate, rapid, non invasive method of detecting hypoxaemia. The purpose of using PO to identify Critical Congenital Heart Disease (CCHD) is that clinically non detectable minimal hypoxaemia can be detected by pulseoximetry. Aim: To study the accuracy of pulse oxymetry as a screening tool for early detection of critical congenital heart diseases in asymptomatic newborns. Materials and Methods: This cross-sectional study was conducted in the Department of Paediatrics and the Postnatal Ward of Obstetrics and Gynaecology at Sri Venkateswara Medical College, Tirupathi, Andhra Pradesh, India, from January 2017 to December 2020. All the term asymptomatic newborns of age more than 24 hours were screened using PO. Screening was positive if a: PO was 3% absolute difference in oxygen saturation between the right hand and foot on three consecutive measures (each separated by one hour). All the screen positive babies were subjected to 2D echocardiography. All statistical analyses were performed using OpenEpi website epicalculator, and Chi-square’s test was used to calculate the p-value. Results: The mean gestational age (weeks) was 38±4 days. Out of 14,400, PO screening was positive in 45 babies, and subsequent echocardiography detected CHD in 30 babies. The sensitivity was 66.67%, positive predictive value was 66.67%, negative predictive value was 99.90%, with a diagnostic accuracy of 99.79%. On 2D electrocardiography, 30 were true positive cases, whereas, false positives and false negatives were 15 each. Remaining 14340 newborns were true negatives. Conclusion: Pulse oximetry is a safe, accessible, feasible test that can be used for early detection of CCHD’s that are often undetected on antenatal ultrasonography.

Background: Critical Congenital Heart Disease (CCHD) is the leading cause of early new-born mortality. Its early detection and intervention is crucial for the survival of affected new-born. Pulse Oximetry (POX) has shown to be one of the feasible, accurate and cost-effective tools in screening CCHD in developed nations, it is yet to be practiced and established as standard of care in a low-resource setting. Objectives: This paper reports on the research protocol and preliminary results of an ongoing study regarding the performance of POX in detecting CCHD in new-borns in a low resource setting. Secondary objectives include investigating the burdens of CCHD and outcome at 12 months of age. Methods: The Tanzanian Pulse Oximetry Study (TPOXS) is a prospective cohort study which plans to enrol 30,000 mothers and new-borns delivered at two referral hospitals in Tanzania. New-borns are offered POX test 12 hours after birth, those positively undergoes echocardiography examinations. Confirmed with CCHD are placed under observation for up to first birthday. Results: During a 5-months pilot period, a total of 1,592 infants at the Muhimbili National Hospital, received POX test .65% of them were post-caesarean section and 52% being male. Most babies delivered through Spontaneous Vertex Delivery (SVD) were promptly discharge and did not get screened. The detection-rate of CCHD was 2.5 per 1,000 live births (at 95% confidence interval [CI] 0.9 to 6.7 per 1000 live birth); with a POX false positive rate of 0.6%. Seven false-positive infants out of 10 were found to carry significant other neonatal conditions, including persistent pulmonary hypertension of the new-born, transient tachypnoeic and neonatal sepsis. Conclusion: This paper provides the protocol of the ongoing TPOXS with the preliminary results showing prevalence matching closely the global data. It shows acceptability of POX screening for CCHD in a well-prepared low resource setting. Highlight: This study addresses the utilization of pulse oximeter in detecting critical congenital heart disease (CCHD) in a low-resource setting (such as sub-Saharan African countries).

What is the proportion of infants born as a result of assisted reproductive technology ART across different types of neonatal critical congenital heart disease (CCHD) in a Japanese population? A retrospective analysis of 418 consecutive infants with CCHD that required catheter treatment or surgery within the first 28 days of life or ductal-dependent lesions, in two paediatric centres in Japan, between January 2014 and December 2019. The proportion of ART in infants with each type of CCHD was evaluated. The proportion of ART in infants with univentricular heart defect (UVH) compared with those with biventricular heart defect (BVH) was evaluated. The study group included 229 boys and 189 girls, with a gestational age of 38 ± 2 weeks. Overall, 61 infants (14.6%) were conceived by fertility treatment with 46 (11.0%) conceived by ART. Univentricular heart defect and BVH were identified in 111 infants (26.6%) and 307 infants (73.4%), respectively. The proportion of infants conceived by ART was significantly higher in UVH (16.2%) than in BVH (9.1%) (OR 2.28, 95% CI 1.11 to 4.68, P = 0.025), regardless of maternal age and maternal history of miscarriage. The proportion of ART in infants with CCHD, especially UVH, was high. These findings could form the basis of a rationale for carrying out fetal echocardiography in fetuses conceived by ART. [ABSTRACT FROM AUTHOR]

Background: Critical Congenital Heart Disease (CCHD) is the leading cause of early new-born mortality. Its early detection and intervention is crucial for the survival of affected new-born. Pulse Oximetry (POX) has shown to be one of the feasible, accurate and cost-effective tools in screening CCHD in developed nations, it is yet to be practiced and established as standard of care in a low-resource setting. Objectives: This paper reports on the research protocol and preliminary results of an ongoing study regarding the performance of POX in detecting CCHD in new-borns in a low resource setting. Secondary objectives include investigating the burdens of CCHD and outcome at 12 months of age. Methods: The Tanzanian Pulse Oximetry Study (TPOXS) is a prospective cohort study which plans to enrol 30,000 mothers and new-borns delivered at two referral hospitals in Tanzania. New-borns are offered POX test 12 hours after birth, those positively undergoes echocardiography examinations. Confirmed with CCHD are placed under observation for up to first birthday. Results: During a 5-months pilot period, a total of 1,592 infants at the Muhimbili National Hospital, received POX test . 65% of them were post-caesarean section and 52% being male. Most babies delivered through Spontaneous Vertex Delivery (SVD) were promptly discharge and did not get screened. The detection-rate of CCHD was 2.5 per 1,000 live births (at 95% confidence interval [CI] 0.9 to 6.7 per 1000 live birth); with a POX false positive rate of 0.6%. Seven false-positive infants out of 10 were found to carry significant other neonatal conditions, including persistent pulmonary hypertension of the new-born, transient tachypnoeic and neonatal sepsis. Conclusion: This paper provides the protocol of the ongoing TPOXS with the preliminary results showing prevalence matching closely the global data. It shows acceptability of POX screening for CCHD in a well-prepared low resource setting. [ABSTRACT FROM AUTHOR]

Background: Critical congenital heart diseases (CCHDs) are among the most common birth malformations. This study aimed to determine the cardiac and noncardiac diseases in the Iranian healthy newborns using pulse oximetry (POX) as a suggested screening method.Methods: In this cross-sectional study, healthy term and near term neonates who were born from October 2017 to March 2018 were evaluated. Preductal and postductal POX was performed in all asymptomatic healthy newborns after 24 hours of life or at any time before discharge from the nursery. Oxygen saturation (SPO2) was considered normal if SPO2 was  95%, and the difference between preductal O2 saturation and postductal POX was obtained at ≤ 3%. The POX was repeated after 2 hours for abnormal patients. In the case of the same results in both repeated measures, echocardiography, chest X-ray, sepsis screening, and blood glucose were conducted.Results: A total of 413 asymptomatic healthy term and near term neonates underwent the pulse oximetry screening (POX). The mean birth weight and gestational age of the neonates were 3256.31±509.62 gr and 38.2 weeks, respectively. The POX was performed averagely 19.5 hours after birth. Finally, a total of 10 cases were detected with abnormal POX. Among these 10 patients, three cases had cardiac diseases (i.e., transposition of the great arteries, ventricular septal defect/pulmonary atresia, and ventricular septal defect/pulmonary hypertension), three cases had noncardiac diseases (i.e., esophageal stenosis, hypoglycemia, and persistent pulmonary hypertension/sepsis), and four subjects were healthy.Conclusion: The obtained findings showed that routine pox, along with clinical examinations could be applied, especially in developing countries for the early detection of cardiac and noncardiac diseases in asymptomatic newborns.

Aims : There are limited data regarding critical congenital heart disease (CCHD) from middle-income countries (MIC). This study aims to determine the birth prevalence, rate of late diagnosis, and influence of timing of diagnosis on the outcome of CCHD. Setting and Design : Retrospective observational cohort study in the State of Johor, Malaysia. Subjects and Methods : All infants born between January 2006 and December 2015 with a diagnosis of CCHD, defined as infants with duct-dependent lesions or cyanotic heart disease who may die without early intervention. The late diagnosis was defined as a diagnosis of CCHD after 3 days of age. Results : Congenital heart disease was diagnosed in 3557 of 531,904 live-born infants and were critical in 668 (18.7%). Of 668, 347 (52%) had duct-dependent pulmonary circulation. The birth prevalence of CCHD was 1.26 (95% confidence interval: 1.16–1.35) per 1000 live births, with no significant increase over time. The median age of diagnosis was 4 days (Q1 1, Q3 26), with 61 (9.1%) detected prenatally, and 342 (51.2%) detected late. The highest rate of late diagnosis was observed in coarctation of the aorta with a rate of 74%. Trend analysis shows a statistically significant reduction of late diagnosis and a significant increase in prenatal detection. However, Cox regression analysis shows the timing of diagnosis does not affect the outcome of CCHD. Conclusions : Due to limited resources in the MIC, the late diagnosis of CCHD is high but does not affect the outcome. Nevertheless, the timing of diagnosis has improved over time.

Objective:In-utero correction is an option for treatment of critical congenital heart diseases (CHDs). Fetal cardiac surgery for CHDs is dependent on the reliable use of fetal cardiopulmonary bypass (CPB), but this technology remains experimental. In this study, we established fetal CPB models with central and peripheral cannulation to explore the differences between the two cannulation strategies.Methods: Ten fetal sheep with 90–110 gestational days were randomized into central cannulation (n = 5) and peripheral cannulation (n = 5) groups. All fetal CPB models were successfully established. At each time point (0, 30, and 60 min after initiation of CPB), echocardiography was performed. Blood samples were also collected for blood gas analysis and tests of myocardial enzymes and liver and kidney function.Results: In the central cannulation group, right ventricular Tei index significantly increased (p = 0.016) over time. Compared with the peripheral cannulation group, the left ventricular Tei index of the central cannulation group was significantly higher (1.96 ± 0.31 vs. 0.45 ± 0.19, respectively; p = 0.028) and the stroke volume was lower (0.46 ± 0.55 vs. 2.13 ± 0.05, respectively; p = 0.008) at 60 min after CPB. Levels of liver and kidney injury markers and of acid-base balance, including alanine aminotransferase (ALT), aspartate aminotransferase/ALT ratio, blood urea nitrogen (BUN), BUN/creatinine ratio, base excess and bicarbonates, were significantly higher for peripheral than for central cannulation. Other important physiologic parameters, including heart rate, blood pressure, myocardial enzymes, umbilical artery beat index and resistance index, left ventricular Tei index, and left and right ventricular stroke volume, were comparable between the two groups.Conclusions: Both central and peripheral cannulations can be used to establish fetal CPB models. Central cannulation causes more adverse impacts for cardiac function, whereas peripheral cannulation is more susceptible to complications related to inadequate organ perfusion.

Objectives: In this literature review, we describe the progress of Indonesia's NBS program (which is heavily centered on CH screening), its current pilot projects, and what lies ahead for this program., Setting: Since its conception began with congenital hypothyroidism (CH) screening, Indonesia has experienced plodding progress in NBS. There is a shortage of literature discussing the history, or the lack of, and journey of NBS in Indonesia., Methods: We searched for literature in Pubmed and Google Scholar with keywords such as "Newborn Screening, "Neonatal Screening," "Indonesia," "Asia Pacific," "Congenital Hypothyroidism," "Congenital Adrenal Hyperplasia,""Critical Congenital Heart Disease," "Hearing Loss," and "Inborn Error of Metabolism.", Results: The only mandatory and regulated NBS program in Indonesia is congenital hypothyroid (CH) screening, with some pilot projects being conducted on screening for congenital adrenal hyperplasia (CAH), critical congenital heart disease (CCHD), hearing loss, and to a lesser extent, inborn error of metabolisms (IEMs)., Conclusion: Despite the evidence and benefits, the government does not mandate or regulate newborn diseases such as CHD, CAH, hearing loss, and IEMs. The lack of regulation exists despite multiple pilot projects and studies showing a benefit in at least trying to screen newborns for those conditions., Competing Interests: The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (© 2024 The Authors.)

Background: Oxygen saturation (Spo 2 ) screening has not led to earlier detection of critical congenital heart disease (CCHD). Adding pulse oximetry features (ie, perfusion data and radiofemoral pulse delay) may improve CCHD detection, especially coarctation of the aorta (CoA). We developed and tested a machine learning (ML) pulse oximetry algorithm to enhance CCHD detection., Methods and Results: Six sites prospectively enrolled newborns with and without CCHD and recorded simultaneous pre- and postductal pulse oximetry. We focused on models at 1 versus 2 time points and with/without pulse delay for our ML algorithms. The sensitivity, specificity, and area under the receiver operating characteristic curve were compared between the Spo 2 -alone and ML algorithms. A total of 523 newborns were enrolled (no CHD, 317; CHD, 74; CCHD, 132, of whom 21 had isolated CoA). When applying the Spo 2 -alone algorithm to all patients, 26.2% of CCHD would be missed. We narrowed the sample to patients with both 2 time point measurements and pulse-delay data (no CHD, 65; CCHD, 14) to compare ML performance. Among these patients, sensitivity for CCHD detection increased with both the addition of pulse delay and a second time point. All ML models had 100% specificity. With a 2-time-points+pulse-delay model, CCHD sensitivity increased to 92.86% ( P =0.25) compared with Spo 2 alone (71.43%), and CoA increased to 66.67% ( P =0.5) from 0. The area under the receiver operating characteristic curve for CCHD and CoA detection significantly improved (0.96 versus 0.83 for CCHD, 0.83 versus 0.48 for CoA; both P =0.03) using the 2-time-points+pulse-delay model compared with Spo 2 alone., Conclusions: ML pulse oximetry that combines oxygenation, perfusion data, and pulse delay at 2 time points may improve detection of CCHD and CoA within 48 hours after birth., Registration: URL: https://www.clinicaltrials.gov/study/NCT04056104?term=NCT04056104&rank=1; Unique identifier: NCT04056104.

Fetal cardiac intervention (FCI) is an emerging and rapidly advancing group of interventions designed to improve outcomes for fetuses with cardiovascular disease. Currently, FCI is comprised of pharmacologic therapies (e.g., trans-placental antiarrhythmics for fetal arrhythmia), open surgical procedures (e.g., surgical resection of pericardial teratoma), and catheter-based procedures (e.g., fetal aortic valvuloplasty for aortic stenosis). This review focuses on the rationale, criteria for inclusion, technical details, and current outcomes of the three most frequently performed catheter-based FCI procedures: (1) aortic valvuloplasty for critical aortic stenosis (AS) associated with evolving hypoplastic left heart syndrome (HLHS), (2) atrial septal intervention for HLHS with severely restrictive or intact atrial septum (R/IAS), and (3) pulmonary valvuloplasty for pulmonary atresia with intact ventricular septum (PA/IVS).

Background Pulse oximetry screening (POS) is acknowledged globally as a noninvasive method to detect critical congenital heart diseases (CCHDs) and respiratory illnesses. However, its value for early diagnosis and treatment remains unrecognized in many hospitals with limited resources around the world. This study aimed to evaluate POS's application in CCHDs, persistent pulmonary hypertension (PPHN), and respiratory distress syndrome (RDS) for early diagnosis and its influence on clinical procedures in rural areas. Methods This prospective observational study included all eligible newborn infants in the regional neonatal unit of a community healthcare center. Their peripheral oxygen saturation was assessed at <24 hours and >24 hours after birth, in the right upper limb and either lower limb. An oxygen saturation of <95% or >3% difference between pre-ductal and post-ductal circulations was considered abnormal. All neonates with abnormal oxygen saturations at >24 hours after birth were subjected to another POS test within two hours of the last test. If the oxygen saturation was still abnormal, it was considered a positive POS test. The POS results were classified as oxygen saturation abnormal (<90%), abnormal (90-94%), and normal (≥95%). All neonates with a positive POS test were referred for echocardiography. Results Overall, 440 infants had documented POS results. A total of 65 (14.77%) infants had a positive POS test result, out of which 39 (8.86%) cases were diagnosed on further evaluation. Four neonates had CCHD (positive predictive value (PPV) = 6.15%), 26 had RDS (PPV = 40%), and nine had PPHN (PPV = 13.85%). Without any further delay, the doctor directed them all to a more advanced facility. Conclusion Our research showed that, in large-scale clinical settings, the addition of pulse oximetry to routine cardiac auscultation could be a reliable and feasible method to screen newborns for CCHD, PPHN, and RDS early on. Our research underscores the importance of implementing routine POS to detect CCHD, RDS, and PPHN in clinical practice., Competing Interests: The authors have declared that no competing interests exist., (Copyright © 2024, Gaonkar et al.)

Neurodevelopmental disabilities are common in infants with critical congenital heart disease (CCHD). A prospective, longitudinal cohort study was conducted to establish the prevalence and early determinants of adverse motor outcomes in infants who underwent cardiac surgery with cardiopulmonary bypass before six months of age. Motor development was assessed in 147 preschoolers using the Movement Assessment Battery for children-II. Although the majority displayed an average motor development, 22% of preschool children with CCHD deteriorated in their motor developmental score compared to their previous assessment at 18 months, especially in those with an aortic arch anomaly (AAA) (35%). Individual stability over time appeared to be moderate and the number of children with a motor delay increased, up to 20% in children with AAA. Motor development up to 42 months was best predicted by gestational age, cardio pulmonary bypass time, aortic cross clamp time, number of heart catheterizations up to 18 months and early motor outcomes. The increase in number of preschool children with a motor delay underlines the importance of longitudinal screening of motor skills in children with CCHD at risk for adverse motor outcomes. Offering early interventions may protect their current and future cardiovascular health as motor development is an independent predictor of exercise capacity, physical activity and participation in daily living.

Pulse oximetry oxygen saturation (SpO2)-based critical congenital heart disease (CCHD) screening is effective in detection of cyanotic heart lesions. We report a full-term male infant with normal perfusion who had passed the CCHD screening at approximately 24 hours after birth with preductal SpO2 of 99% and postductal SpO2 of 97%. Detection of a loud systolic cardiac murmur before discharge led to the diagnosis of pulmonary atresia (PA) with ventricular septal defect (PA-VSD) by echocardiogram. The infant was transferred to a tertiary care center after initiation of prostaglandin E1 (PGE1) therapy. Throughout the initial course, he was breathing comfortably without respiratory distress or desaturations on pulse oximetry. We believe that this is the first documented report of PA missed by CCHD screening. Thorough and serial clinical examinations of the newborn infant proved vital in the timely diagnosis of this critical disease. We review the hemodynamics and the recent literature evaluating utility of CCHD screening in the diagnosis of PA-VSD. Pulse oximetry–based CCHD screening should be considered a tool to enhance CCHD detection with an emphasis on detailed serial physical examinations in newborn infants.

Late diagnosis of critical congenital heart disease (CCHD) is associated with higher levels of morbidity and mortality in neonates. Nearly all states have passed laws mandating universal pulse oximetry screening (POxS) of newborns to improve early detection rates of CCHD. We performed a retrospective chart review of all transthoracic echocardiograms (TTEs) interpreted by our institution on patients between 0 and 30 days of life in the years 2010 (prior to POxS) and 2015 (after POxS). Between 2010 and 2015, the number of neonatal TTEs interpreted by our institution decreased by 18.2%. In 2015, there were 46 neonates diagnosed with CCHD with a 78% prenatal detection rate. There was only one case of a true-positive POxS. Our study demonstrated that the initiation of POxS coincided with a significant decrease in neonatal TTEs, suggesting universal POxS may impart reassurance to primary providers leading to a decrease in TTE utilization. [ABSTRACT FROM AUTHOR]

Infants with critical congenital heart defects (CCHDs) are at increased risk for neurodevelopmental delays. The early identification of motor delays is clinically relevant to prevent or reduce long-term consequences. The current study aims to describe the motor-developmental pathways of infants with a CCHD. Motor development was assessed in 215 infants and toddlers using the Dutch version of the Bayley-III. At 3 months (n = 165), 9 months (n = 188), and 18 months (n = 171) the motor composite scores were 97, 98, and 104, respectively. A motor composite score of ≤−2 SD was only seen in 2.4%, 0%, and 2.3%, respectively, with gross motor deficits being observed more often than fine motor deficits (12% vs. 0% at 18 months). Over 90% of infants who scored average at 9 months still did so at 18 months. The majority of infants with below-average gross motor scores (≤−1) at 9 months still had a below-average or delayed motor score (≤−2 SD) at 18 months. Abnormal gross motor scores (≤−2 SD) increased with age. Infants with single-ventricle physiology performed significantly (p ≤ 0.05) worse on both fine and gross motor skills at 9 and 18 months compared to infants with other CCHDs.

Abstract Background Delayed diagnosis of critical congenital heart disease (CCHD) carries a serious risk of mortality, morbidity, and handicap. As echocardiography is commonly used to diagnose congenital heart disease (CHD), echocardiographic investigations in newborns may be helpful in detecting CCHD earlier and with higher sensitivity than when using other screening methods. The present study aimed to evaluate the effectiveness of echocardiographic screening for CCHD in a tertiary care center. Methods A retrospective chart review was conducted among newborns delivered at Hamamatsu University Hospital between June 2009 and May 2016. The study included consecutive newborns who underwent early echocardiographic screening (within the first 5 days of life) performed by pediatric cardiologists, were born at ≥36 weeks of gestation, had a birthweight ≥2300 g, and were cared for in the well-baby nursery. Newborns admitted to the neonatal intensive care unit, as well as those with prenatal diagnosis of CHD and/or clinical symptoms or signs of CHD were excluded. Four CHD outcome categories were defined: critical, serious, clinically significant, and clinically non-significant. Results A total of 4082 live newborns were delivered during the study period. Of 3434 newborns who met the inclusion criteria and had complete echocardiography data, 104 (3.0%) were diagnosed as having CHD. Among these, none was initially diagnosed as having critical or serious CHD. Of the 95 newborns who continued follow-up with a cardiologist, 61 (64%) were determined to have non-significant CHDs that resolved within 6 months of life. Review of excluded newborns revealed nine cases of critical or serious CHD; among these newborns, six were diagnosed prenatally and three had some clinical signs of CHD prior to hospital discharge. Conclusions In our tertiary care center, echocardiography screening within the first 5 days of life did not help improve CCHD detection rate in newborns without prenatal diagnosis or clinical signs of CHD. Echocardiographic screening may be associated with increased rate of false-positives (defects resulting in clinically non-significant CHDs) in newborns without prenatal diagnosis or suspicion of CHD.

INTRODUCTION: The incidence of congenital heart disease varies from about 8-10 /1,000. Critical CHD, defined as requiring surgery or catheter-based intervention in the first year of life, occurs in approximately 25 percent of those with CHD. Therefore, it's necessary to diagnose children with critical CHD as soon as possible, and develop a treatment plan. This study aims to screen newborns in terms of critical CHD in the early postnatal period using the Masimo Radical-7® pulse oximeter as well as revealing the screening results of our hospital. METHODS: All newborns, hospitalized in our hospital, in the Maternity Ward, and the newborns over 34 weeks of gestational age, who had been screened between July 2015 and March 2016 were included in the study. A total of 623 newborns were screened. RESULTS: Of the 623 neonates screened, 298 (47.8%) were female. 29 neonates(4.7%) were unable to pass the screening. These 29 neonates underwent echocardiography within the first 24 hours. Six (20.6%) neonates, who failed this screening, were diagnosed with critical CHD according to the results of echocardiography. Only one of the 594 neonates was diagnosed with critical CHD. In this study, the Masimo Radical-7® device was found to have 85.7% sensitivity, 96.3% selectivity, and 20.7% and 99.8% of positive and negative predictive values respectively. DISCUSSION AND CONCLUSION: Cardiovascular malformations are a common type of congenital malformations. However, significant portion of these malformations cannot be detected by routine neonatal screening. In line with our study results, newborn pulse oximetry screening is suggested for early detection of CHD.

Background/aim: Congenital heart disease (CHD) is the most common congenital malformation group and is the leading cause of newborn mortality in developed countries. Most of the infants with CHD develop preoperative or postoperative acute kidney injury (AKI). Acute kidney injury may develop before the serum creatinine rise and oliguria. Urinary biomarkers such as kidney injury molecule-1 (KIM-1), neutrophil gelatinase-associated lipocalin (NGAL), interleukin (IL)-18, and cystatin C may predict AKI in patients with critical CHD (CCHD) before the serum creatinine rise. In this study, we aimed to determine the AKI incidence among newborn patients with CCHD and investigate the predictivity of urinary biomarkers for AKI. Materials and methods: Newborns with a gestational age >34 weeks and birth weight >1500 g with a diagnosis of CCHD were enrolled in the study. Blood and urine samples were collected at birth, during the first 24--48 h, and in the preoperative and postoperative periods. Results: A total of 53 CCHD patients requiring surgery during the neonatal period were enrolled in the study. The 24--48 h KIM-1 levels of the cases with exitus were higher (P = 0.007). The 24--48 h cystatin C and preoperative NGAL levels were higher in patients with postoperative AKI (P = 0.02). Conclusion: In newborns with CCHD, high KIM-1 levels may predict mortality, whereas high cystatin C and preoperative NGAL levels may be indicative of AKI. These biomarkers deserve further investigation in larger study populations. [ABSTRACT FROM AUTHOR]

Background: Newborns with critical congenital heart disease (CCHD) with increased pulmonary blood flow (PBF) are at high risk for congestive heart failure. In this study, we aimed to evaluate the presence and degree of pulmonary edema in newborns with CCHD using lung ultrasound (LUS) during the perioperative period., Methods: Prospective clinical trial, 44 newborn patients with CCHD were evaluated in this prospective clinical trial. LUS was repeatedly performed to determine the course of pulmonary edema during the perioperative period. LUS was performed simultaneously with chest radiography (CXR), which was the main part of patient management. The primary outcome of this study was to identify whether a correlation existed between LUS and CXR findings. The secondary outcomes were to determine the relationship between LUS and the need for respiratory support, diuretic use, vasoactive inotropic score (VIS), and pro-B-type natriuretic peptide (pro-BNP) levels during the perioperative period., Results: The mean gestational age of the patients was 38.3 ± 1.7 weeks, with a mean birth weight of 3026 ± 432 g. In the preoperative period, both LUS and CXR images were consistent with clinical signs of pulmonary edema. On the first postoperative day, pulmonary edema increased compared to the preoperative period but gradually decreased by the 6th day of surgery (p < 0.05). Positive correlations were observed between the LUS and CXR findings at all study points (p < 0.05). The LUS findings exhibited trends parallel to those of VIS, serum pro-BNP levels, need for respiratory support, and diuretic requirements. As expected, these trends were more pronounced in CCHDs where PBF increased., Conclusion: In CCHD, serial lung ultrasound (LUS) assessments, particularly in cases with increased PBF, can provide valuable guidance for managing patients during the perioperative period., Competing Interests: Declaration of competing interest The authors declare no conflicts of interest relevant to this article., (Copyright © 2024 Taiwan Pediatric Association. Published by Elsevier B.V. All rights reserved.)

In Mexico, CHD incidence is estimated at 18,000-21,000 newborns per year, and at least 25% will have critical congenital heart disease. The mortality rates showed that 24% of the infant deaths in 2013 were attributable to CCHDs. Despite these, the CCHD screening is not performed in all hospitals. The general objective is to show the statistical relationships, compared with existing evidence of the power of repeat screenings on detection of CCHD, to better inform government recommendations for universal screening in Mexico. Three thousand seven pulse oximetry readings were performed on newborns (the 5th of February - the 1st of July of 2019). We aimed to perform the first screen on the subjects between 5-48 hrs of life. Some required a repeat reading due to a failure in the first. Screenings occurred between 6-69 hrs, with a mean time of 22hr post-delivery. Secondary readings were performed on 160, of which 29 were also given echocardiograms because they failed the secondary test. The average measurement on the foot was 93.8% and on the right hand was 93.5%. In the 29 subjects with repeated readings, seven were positive for CCHD; two were false positives. The data and analysis show promise in the association between early readings and the detection of potential CCHD. There is a correlation between the concerning readings and detection of CCHD through an echocardiogram. More data is needed to ascertain other relationships, but the results thus far imply low pulse oximetry readings associated with CCHDs and other secondary conditions associated with hypoxemia. [ABSTRACT FROM AUTHOR]

Introduction: Congenital heart defects (CHD) are common and are a frequent subject of research using large administrative databases such as the Pediatric Health Information System (PHIS) database. The capture rate of CHD within PHIS, however, has not been described. Methods: The PHIS database includes inpatient encounters from over 52 tertiary care pediatric hospitals across the United States. We identified all patients less than 1 year of age with a cardiac defect in PHIS from 2010 to 2014 and compared these results with national prevalence estimates based on the National Birth Defects Prevention Network annual report, which served as the gold standard. Results: The capture rate of CHD in PHIS ranged from 30 to 95% depending on the spectrum of severity and heterogeneity of the cardiac defect. The capture rate was higher for critical CHD (CCHD) at 66%, and all lesions with 70% or greater capture rate (interrupted aortic arch, truncus arteriosus, single ventricle, total anomalous pulmonary venous return, double outlet right ventricle, and hypoplastic left heart syndrome) fell within the CCHD category. Conclusions: Just over half of the predicted CHD patients were identified using the PHIS database. Although there is a high capture rate for CHD that require early hospitalization, there is a low capture rate for defects with a wider spectrum of disease presentation. These attributes of the PHIS database should be used to frame previous and future research using PHIS to study CHD. [ABSTRACT FROM AUTHOR]

Aims: There are limited data regarding critical congenital heart disease (CCHD) from middle-income countries (MIC). This study aims to determine the birth prevalence, rate of late diagnosis, and influence of timing of diagnosis on the outcome of CCHD. Setting and Design: Retrospective observational cohort study in the State of Johor, Malaysia. Subjects and Methods: All infants born between January 2006 and December 2015 with a diagnosis of CCHD, defined as infants with duct-dependent lesions or cyanotic heart disease who may die without early intervention. The late diagnosis was defined as a diagnosis of CCHD after 3 days of age. Results: Congenital heart disease was diagnosed in 3557 of 531,904 live-born infants and were critical in 668 (18.7%). Of 668, 347 (52%) had duct-dependent pulmonary circulation. The birth prevalence of CCHD was 1.26 (95% confidence interval: 1.16-1.35) per 1000 live births, with no significant increase over time. The median age of diagnosis was 4 days (Q1 1, Q3 26), with 61 (9.1%) detected prenatally, and 342 (51.2%) detected late. The highest rate of late diagnosis was observed in coarctation of the aorta with a rate of 74%. Trend analysis shows a statistically significant reduction of late diagnosis and a significant increase in prenatal detection. However, Cox regression analysis shows the timing of diagnosis does not affect the outcome of CCHD. Conclusions: Due to limited resources in the MIC, the late diagnosis of CCHD is high but does not affect the outcome. Nevertheless, the timing of diagnosis has improved over time. [ABSTRACT FROM AUTHOR]