The objective of this study is to investigate the distribution of increased nuchal translucency (NT) and its role in predicting fetal and neonatal losses in congenital heart disease (CHD). This retrospective study analyzed 18,050 CHDs with documented NT measurements. Maternal characteristics, CHD subtypes, prenatal diagnoses, and fetal and neonatal losses were compared across NT categories. Cox regression analysis was performed to identify independent predictors of adverse outcomes. Increased NT occurred in 424 (2%) CHDs, more frequently in older mothers, those with previous adverse perinatal outcomes and prior CHDs. NT>5.0mm was more prevalent in critical CHDs and CHDs with extracardiac anomalies. Prenatal diagnosis rates increased from 17% (NT<2.5mm) to 94% (NT>5.0mm), whereas CHD-involved mortality rose from 10% to 90% (both p<0.001). Cox regression analysis identified that severely increased NT increased at least a 3-fold higher risk of fetal and neonatal losses than the normal NT group. NT distribution varies by maternal sociodemographics. Increased NT is more common in critical CHD and CHD with extracardiac structural abnormalities. Increased NT also plays an important role in predicting fetal and neonatal losses in CHD.

Perinatal transition is uniquely complex in newborns with critical congenital heart disease (CCHD), whose cardiopulmonary physiology often diverges from the standard neonatal resuscitation framework. We developed lesion-specific clinical practice guidelines (CPGs) for delivery room (DR) management of six high-risk CCHD diagnoses - hypoplastic left heart syndrome, dextro- transposition of the great arteries, Ebstein anomaly, congenital complete heart block, total anomalous pulmonary venous return, and tetralogy of Fallot with absent pulmonary valve. Developed collaboratively between neonatologists, cardiologists, and cardiac intensivists, these guidelines standardize DR stabilization for high-risk, low frequency events, promote a shared mental model among multidisciplinary teams, and provide structured escalation thresholds for oxygen, respiratory support, intubation, and medication use. Beyond clinical standardization, these CPGs enhance provider education, team preparedness, and family counseling. They offer a scalable framework adaptable to centers with or without on-site cardiac care, bridging physiologic principles with practical implementation.

Neonatal nurses' performance in implementing the advancing newborn screening of critical congenital heart disease.

Dextro-transposition of the great arteries is a critical CHD traditionally considered sporadic, with low familial recurrence. Emerging evidence suggests a genetic component in select cases, particularly with rare familial clustering. We report concordant d-TGA in monochorionic diamniotic twins, a highly unusual occurrence, strengthening the argument for a heritable predisposition.

This study aims to examine the incidence and clinical outcomes of critical congenital heart disease (CCHD) in neonates in China, with a specific focus on prognostic indicators following surgical intervention. A retrospective analysis was conducted on neonates who underwent surgical correction of congenital heart disease (CHD) involving cardiopulmonary bypass (CPB) at a single tertiary care hospital between January 2022 and December 2024. Documented variables included patient weight, type of cardiac anomaly, duration of CPB, aortic cross-clamp time, and systemic circulation duration. Prognostic indicators, length of hospital stay, and duration of mechanical ventilation in the intensive care unit (ICU) were also recorded. A total of 234 neonates underwent cardiac surgery with CPB during the study period. The cohort comprised 146 males and 88 females, with a mean weight of 3.64 ± 3.43kg and a mean age of 12.10 ± 7.77 days. The mean duration of CPB time was 159.19 ± 67.51min, mean cross-clamp duration was 95.53 ± 44.20min, and mean bypass duration was 37.54 ± 28.98min. The mean length of hospital stay was 25.43 ± 13.61 days, and the mean mechanical ventilation duration was 3.64 ± 2.71 days. Among the patients, 139 were diagnosed with cyanotic CHD, and 95 with acyanotic CHD. Emergency procedures were performed in 39 cases, while 195 cases underwent elective surgery. Radical surgery was performed in 215 cases, single-stage palliation in 4 cases, and intrapartum surgery in 15 cases. 222 neonates were discharged following recovery, and 12 deaths were recorded. In China, CCHD remains prevalent among newborns, posing a significant threat to their lives. With advancements in surgical and cardiopulmonary bypass techniques, the treatment system for these critically ill newborns is being progressively refined. This has led to continuously improving success rates and an increasingly diverse range of treatment options available.

ABSTRACT Worldwide, approximately 1 in 100 children are born with a congenital heart defect, with 25% of those being classified as critical and posing risks for neurocognitive deficits due to cyanosis. Cognitive Disengagement Syndrome (CDS) has yet to be examined in children with critical congenital heart defects (cCHD) despite calls for research in pediatric populations with acquired brain injury and associated deficits. Children with cCHD, ages 9–13, were identified through patient registries and comparison classmates CC were matched after completing sociometric surveys of peer relationships in schools. Caregiver ratings of CDS symptoms and children’s self-report of peer interaction and social adjustment were obtained at home visits with both groups (NcCHD = 108, NCC = 72). Children with cCHD exhibited greater CDS symptoms than CC (d = 0.31, p = .011). CDS symptoms were associated with peer and self-reports of social difficulty, in particular the experience of peer victimization and fewer reciprocated friendships at school relative to healthy peers. CDS symptoms partially accounted for higher self-reported victimization and social problems in cCHD survivors but did not account for group differences in peer-reported social difficulties. These indirect effects were no longer significant after controlling for parent reports of broader symptoms of attention deficit hyperactivity disorder (ADHD). Future research is needed to better disentangle the comparative influence of CDS and ADHD symptoms on the psychosocial outcomes of children with cCHD and other chronic conditions involving brain injury and heightened neurodevelopmental risk.

Associations between cardiorespiratory fitness, activity behavior, physical literacy and parental sports participation in children with a critical congenital heart disease.

Missed Opportunities: Single-Center Insights into Prenatal Cardiac Palliative Care.

Surveillance of critical congenital heart defects (CCHDs) is important for research and public health practice. The recent implementation of universal pulse oximetry (POX) screening may provide an additional resource for improving the completeness of CCHD surveillance data. This analysis evaluates the utility of multiple data sources, including POX records, for CCHD case identification. Using the cohort of CCHD cases confirmed by the North Carolina Birth Defects Monitoring Program born 2018-2021 (N = 1035), sensitivity values were calculated for birth, infant death, and fetal death certificates; hospital discharge records; and POX records. Sensitivity was defined as the percentage of confirmed CCHD cases identifiable from a given data source. Sensitivity values were also stratified by demographic and clinical characteristics of cases. The sensitivity of the data sources for case identification varied widely: birth certificate (6.7%; 95% confidence interval [CI]: 5.1-8.3); fetal death certificate (29.8%; 95% CI: 18.0-41.7); POX record (59.5%; 95% CI: 56.2-62.8); infant death certificate (73.0%; 95% CI: 66.7-79.3); and discharge record (89.9%; 95% CI: 88.0-91.8). Sensitivity values for some data sources were significantly higher for cases delivered in larger hospitals, transferred after delivery, admitted to the neonatal intensive care unit, or prenatally diagnosed. The POX record was only moderately sensitive, in part due to missing records, limiting its added value for case finding, though improvements in reporting may increase its utility. To help optimize staff time and resources, surveillance programs should consider the utility of supplemental data sources for CCHD case ascertainment.

Pulse oximetry screening has become a cornerstone in the early detection of critical congenital heart disease in newborns, offering a non-invasive and accessible method to identify subtle disturbances in oxygenation that may not be clinically apparent during the first hours of life. This study evaluated the prevalence of abnormal screening results in a large cohort of clinically healthy neonates, using standardized preductal and postductal measurements and applying repeated assessments when initial values fell within borderline ranges. The findings showed that although most newborns exhibited oxygen saturation values within normal physiological limits, a small but clinically meaningful proportion required referral after persistent abnormal readings. Lower gestational age and low birth weight were consistently associated with higher rates of abnormal results, reflecting the immaturity of pulmonary and circulatory adaptation inherent to these groups. Additionally, screenings conducted shortly after 24 hours of life demonstrated a higher prevalence of abnormal values compared with those applied later, likely related to transitional hemodynamic changes characteristic of the early neonatal period. These results align with previous evidence indicating that transitional physiology, measurement timing, and neonatal characteristics influence screening performance. Overall, the study reinforces the importance of pulse oximetry as a practical and reliable tool for identifying neonates at potential risk of cardiopulmonary compromise, supporting timely clinical evaluation, reducing diagnostic delays, and contributing to improved neonatal outcomes. The consistency of the findings across different clinical contexts highlights the robustness of the screening protocol and emphasizes the need to maintain standardized procedures, adequate training, and appropriate follow-up to ensure the effectiveness of neonatal cardiovascular screening programs.

Critical congenital heart disease (CCHD) is a major cause of neonatal mortality. Early detection using pulse oximetry (SpO₂) within 24–48 hours of life improves survival by identifying hypoxemia before clinical deterioration. A feasibility study in Yogyakarta, Indonesia, screened 1,452 newborns and detected eight CCHD cases (~6 per 1,000 live births), confirming its value in limited-resource settings. A full-term female neonate delivered by elective cesarean section had an initial SpO₂ of 96% but developed cyanosis within 24 hours, with saturation dropping to 90%. Abnormal SpO₂ results led to referral, and echocardiography confirmed critical pulmonary stenosis with PDA and PFO. Balloon valvuloplasty was performed successfully, normalizing oxygen levels. Pulse oximetry screening shows moderate sensitivity (76–83%) and high specificity (~99.9%) for detecting CCHD. Despite logistical and training challenges, it remains feasible and cost-effective in low- and middle-income settings. Integrating SpO₂ screening into routine newborn assessment, supported by national policy and staff training, can enhance early diagnosis and reduce neonatal deaths related to undetected CCHD.

BackgroundThe transition from fetal to neonatal life involves significant physiological changes, particularly in arterial oxygen saturation (SpO₂), which can be visually observed as skin color changes. However, visual assessment alone is prone to variability. Pulse oximetry offers a reliable, non-invasive method to monitor SpO₂ levels, providing critical information on newborn oxygenation and aiding in the early detection of critical congenital heart diseases (CCHD).MethodsThis observational cross-sectional study was conducted at a tertiary care center over 18 months, involving 250 newborns. Pre-ductal and post-ductal SpO₂ were measured using pulse oximeters at 2, 3, 4, 5, 10, and 15 minutes or until levels surpassed 90%. Data analysis was performed using Student's t-test and the Mann-Whitney U test, with a significance threshold of p < 0.05.ResultsThe mean time for pre-ductal SpO₂ to reach 90% was 8.68 minutes, while post-ductal SpO₂ took 9.05 minutes. The time for pre-ductal and post-ductal SpO₂ to equalize was 11.57 minutes. Maternal age, gestational age, birth weight, and maternal hemoglobin levels had minimal impact on SpO₂ stabilization.ConclusionThis study highlights the critical role of oxygen supplementation in accelerating SpO₂ stabilization and the influence of maternal comorbidities on neonatal oxygenation. Despite minimal impact from other factors, targeted monitoring and intervention are essential, particularly for newborns born to mothers with health conditions. These insights emphasize the need for tailored neonatal care strategies to optimize outcomes during this critical period of adaptation. Targeted oxygen supplementation and maternal comorbidity screening may help optimize neonatal transition.

A focused, practical guide for general paediatricians and resident doctors managing neonates with suspected critical congenital heart disease (CHD), a spectrum of life-threatening cardiac defects requiring intervention. Through detailed case examples, we simulate real-world scenarios that highlight the diagnostic challenges and importance of early recognition. The article reviews essential clinical signs-including differential preductal and postductal oxygen saturations, persistent cyanosis unresponsive to oxygen, poor perfusion and weak femoral pulses-that should raise suspicion for critical CHD. It outlines a stepwise approach to initial management, encompassing immediate stabilisation with cautious fluid administration, and the early use of prostaglandin E1 infusions to maintain and increase ductal patency in duct-dependent lesions. Guidance is provided on prostaglandin, escalation, monitoring for side effects and the need for early discussion with tertiary cardiac centres. The article also addresses the careful titration of oxygen therapy to avoid potential risks unique to certain cardiac physiologies. Emphasis is placed on the limitations of prenatal screening programmes and the need for vigilance in postnatal care. Supplementary quiz questions reinforce key learning objectives and ensure knowledge retention. In summary, this article serves as an educational resource for prompt recognition, stabilisation and referral of neonates with critical CHD.

Background: Up to 50% of infants with critical congenital heart disease (CCHD) experience neurodevelopmental delay, potentially due in part to neuroinflammation and iron deficiency. These factors contribute to long-term neurodevelopmental disorders in preterm infants, but it is unclear whether similar mechanisms occur in CCHD and thus represent intervention targets. To address knowledge gaps about brain inflammation and iron status in CCHD, we developed a novel, non-invasive method to isolate brain-derived exosomes (BDEs) from peripheral blood using contactin-2 (CNTN2), a brain-specific glycoprotein. BDEs cross the blood-brain barrier and carry biomarkers reflecting their origin. Aim: Determine the feasibility of isolating plasma BDEs and assessing therein markers for neuroinflammation and iron status in infants with CCHD. Methods: This pilot study included infants ≤6 months old with transposition of the great arteries (TGA) or hypoplastic left heart syndrome (HLHS), using plasma from the Heart Centre Biobank (Toronto). CNTN2+ BDEs were isolated via size exclusion spin columns, enriched by immunoprecipitation, and analyzed for size, concentration, and integrity. BDE contents were assessed with a validated (for clinical use) panel of cytokines, chemokines, iron, and brain biomarkers. Analysis included data visualization and Pearson’s correlation matrix to explore relationships and compare results to published BDE values of healthy newborns from mothers with or without overweight/obesity (OWO). Results: Infants (n=11; 5 HLHS, 6 TGA) were 55% female and mean age 3.7 months. Compared to healthy newborns (Fig. 1), infants with CCHD had higher ferritin and lower transferrin and S100B. While peripheral CRP (850.16 ± 637.94 ng/mL) was elevated, BDE CRP was lower compared to healthy newborn groups. BDE Ferritin was positively correlated (Fig. 2) with PARK7, a cell metabolism marker, and TfR correlated with S100B (reflects astrocytosis). Conclusions: Assessing BDE biomarkers in infants with CCHD is feasible. In this small cohort, preliminary results showed that CCHD iron biomarker patterns aligned with those in newborns of mothers with OWO, an inflammatory condition that sequesters iron as ferritin. Further research is warranted to determine if patterns of low BDE CRP (amid systemic inflammation), reduced S100B, and higher BDNF (a nerve growth factor), are replicated in larger CCHD cohorts, and if BDE inflammation and iron biomarkers can indicate neurodevelopmental deficits.

Background: Critical congenital heart disease (CCHD) screening algorithms based on pulse oximetry have up to 27% false positive rate at high altitudes (&gt;2500 m) despite altitude-specific cutoff changes. We examined the added value of an adult-based AI model applied to phonocardiography (AI-PCG) in the digital stethoscope EKO Core 500 in these settings. Research Question: What is the diagnostic performance of AI-PCG model compared to pulse oximetry in detecting neonatal CCHD across different altitudes in Latin America? Methods: This observational, prospective, case-control study included newborns born at different altitudes from 0 to 4380 meters in Peru, Mexico, Colombia and Bolivia. All underwent preductal and postductal oximetry at least 18 hours after birth, electrocardiography and PCG with the digital stethoscope. All CCHD cases were confirmed by echocardiography. Non-CCHD cases were defined by echocardiography or clinically if they were alive for 1 month and had 1) negative pulse oximetry, 2) no hospitalization due to cardiac or pulmonary causes and 3) no cyanosis or pneumonia. Those with abnormal pulse oximetry, genetic syndromes or murmur detection underwent echocardiography. Diagnostic performance metrics [area under the receiving operating characteristic curve (AUROC), sensitivity, specificity and false positive rate] were evaluated per modality. Results: A total of 1152 newborns were enrolled, 725 at &lt;2500 m [13 (1.8%) with CCHD] and 427 at &gt;2500 m [6 (1.4%) with CCHD]. Out of 19 CCHD cases, 17 had positive pulse oximetry and 9 had a positive AI-PCG model. One newborn with severe coarctation of the aorta and atrial septal defect had negative pulse oximetry and AI-PCG model. Pulse oximetry showed superior AUROC (0.932 vs 0.664), sensitivity (89.5% vs 47.4%), specificity (97% vs 85.5%) and lower false positive rate (3% vs 14.5%) compared to the AI-PCG model across altitudes. Diagnostic accuracy varied with altitude (Figure): at &lt;2500 m, pulse oximetry showed higher AUROC (0.999 vs 0.612) and lower false positive rate (0.1% vs 16%) than AI-PCG model, but at &gt;2500 m, pulse oximetry had similar AUROC (0.794 vs 0.774) and lower false positive rate (7.8% vs 11.9%) than the AI-PCG model. Conclusion: Pulse oximetry has superior diagnostic performance than an adult-based AI-PCG model when screening for neonatal CCHD at &lt;2500 m, but similar performance is found &gt;2500 m.

Background: Neonates with critical congenital heart disease (CHD) have significant variability in outcomes not explained by traditional risk factors. Previous work showed that pregnancies with CHD have placental abnormalities likely related to abnormal vascular signaling. Variability in vascular signaling may identify neonates with increased risk for adverse outcomes. Our objective was to identify differences in maternal-fetal biomarkers and their associations with outcomes post-cardiac surgery. Methods: We examined the balance of proangiogenic (vascular endothelial growth factor A VEGF-A and placental growth factor PLGF) and anti-angiogenic (endothelin, vascular endothelial growth factor receptor VEGF-R) biomarkers in mother/infant dyads. We included Hypoplastic left Heart Syndrome (HLHS) and d-Transposition of the Great Arteries (TGA). Blood samples were collected from the mothers within 24h post-delivery and from cord venous blood. We included women 18-40 years of age with single gestation delivered at 36+ weeks. Excluded were infants with genetic syndromes, mothers with diabetes, smoking history, or substance use disorder. Data also included infant demographics, gestational age, age at surgery, birth weight, index surgery with bypass time, deep hypothermic circulatory arrest (DHCA) duration, use of antegrade cerebral perfusion (ACP), duration of cross-clamp, post-operative complications, and hospital length of stay (LOS). Spearman correlation coefficient ( r ) was used to assess associations of fetal and maternal markers with LOS. Results: TGA group (N=19) was more likely to have longer cross-clamp times (p=0.002). HLHS group (N=15) was more likely to have had DHCA and ACP, to have a longer LOS, and to return with an open chest (p&lt;0.003). In the combined cohort (N=34), lower maternal VEGF-R levels were associated with return with an open-chest and another bypass during admission (p=0.04). In HLHS, maternal VEGF-R levels were inversely correlated with LOS ( r = -0.65, p=0.01). No fetal markers were associated with LOS outcomes in either group. Conclusion: Maternal VEGF-R levels and not neonatal biomarkers were associated with some post-operative outcomes, with maternal VEGF-R inversely related to LOS in HLHS and directly related to a more complex post-op course in the combined group. This further emphasizes the importance of maternal-fetal interactions and underscores the need to better define the role of vascular signaling in CHD and post-op outcomes

Objective: To evaluate the value of combined fetal heart V-angle (VSA), cardiothoracic ratio (CTR), whole heart spherical index (GSI) and axis of the heart (CAx) in predicting congenital heart disease (CHD) in early pregnancy by using color Doppler ultrasonography. Methods: From January 2022 to March 2024, 2529 fetuses with normal fetal heart color Doppler ultrasonography and 50 fetuses with CHD were collected from 11+0 weeks to 16+0 weeks at the double center of Beijing Haidian District Maternal and Child Health Hospital and Fujian Provincial Maternal and Child Health Hospital. The correlation of parameters in early pregnancy and gestational week (GA) was analyzed. The normal reference range and model were established and verified. Based on the established model, the diagnostic efficacy of the four parameters for CHD was quantitatively evaluated and its clinical application value was discussed. Results: There was negative correlation between VSA and GA, positive correlation between CTR and GSI, and no correlation between CAx and GA. Complete the construction of Z-value model of four parameters and the normal reference range of four parameters in five groups of gestational weeks; The establishment of polynomial linear regression model can effectively improve the detection rate of CHD by monomial regression model with single parameter. According to different fetal CHD classification forms, the four parameters have statistical significance in abnormal CHD sites and critical CHD, and can be used as effective parameters for screening CHD in early pregnancy. Conclusion: In this study, the four parameters of CAx, CTR, VSA and CSI can be used as effective parameters for the diagnosis of fetal CHD in early pregnancy. The normal reference range of four parameters in early pregnancy and the combined prediction model of multiple parameters were established for the first time, and the correlation between each parameter and GA in early pregnancy was analyzed to provide quantitative indicators for CHD screening. Further improve the accuracy of CHD early pregnancy prediction.

Postnatal and postinterventional cerebral Doppler ultrasound in neonates with critical congenital heart disease.

Population studies of congenital heart disease (CHD) often include only children receiving cardiac interventions, underestimating the burden of cases without intervention. We evaluated outcomes for all detected structural CHD cases in England from fetal life to the age of 1 year. We linked the National Congenital Anomaly and Rare Disease Registration Service, the National Congenital Heart Disease Audit, and Office for National Statistics mortality records to construct an incident cohort with estimated delivery/birth dates 2018-2020. Outcomes were: termination of pregnancy, fetal loss (miscarriage/stillbirth), live birth with no cardiac intervention in infancy, and live birth with intervention(s) in infancy. Infant mortality at the age of 1 year was assessed. Among 11 265 CHD cases, 63.7% were antenatally detected (95% CI 62.8% to 64.6%), rising to 94.2% (92.0% to 96.0%) for hypoplastic left heart syndrome (HLHS). There were 1766 terminations (15.7%, 95% CI 14.7% to 16.7%), 295 fetal losses (2.6%, 95% CI 1.6% to 3.6%), 4538 live births with no infant cardiac intervention (40.3%, 95% CI 39.3% to 41.3%) and 4666 with intervention(s) (41.4%, 95% CI 40.4% to 42.4%). Termination was higher with greater CHD complexity (eg, HLHS 51.1% (95% CI 46.8% to 55.5%) versus isolated ventricular septal defect 6.0% (95% CI 4.3% to 7.7%), p<0.001), non-cardiac comorbidities (23.6% (95% CI 21.9% to 25.4%) vs 11.3% (95% CI 10.1% to 12.6%), p<0.001), and least versus most deprived areas (20.3% (95% CI 17.5% to 23.1%) vs 11.6% (95% CI 9.7% to 13.5%), p<0.001). Infant mortality was 13.3% (602/4538) in the no-intervention group and 5.2% (243/4666) in the intervention group; those deaths without intervention (n=602) were predominantly cases with critical CHD (n=154), preterm birth (n=301) and/or comorbidity (n=362). This national, linked cohort shows that un-intervened cases account for most infant deaths and that antenatal detection exceeds 90% for the most complex lesions. Registries and quality improvement should include all CHD care pathways to inform counselling and equitable service planning.

Pulse oximetry screening (POS) has been shown to be an effective, noninvasive screening method that can detect 50-70% of previously undiagnosed critical congenital heart diseases (CCHD). In this study, we sought to understand the role of POS in the detection of non-CCHD neonatal morbidities such as neonatal sepsis and polystemia. This cohort study was conducted in a central maternity hospital. Patients who failed POS were first evaluated by echocardiography, and then, other neonatal morbidities such as sepsis, polystemia and congenital pneumonia were evaluated. Overall, 29,840 infants had documented POS results in 34,806 live-born patients screened. A total of 301 (1%) infants had a positive test. A total of 23 (1.1%) patients had CCHD and significant congenital heart disease. Of those who failed pulse oximetry testing, noncardiac causes such as sepsis were observed in 101 (33.7%), congenital pneumonia in 16 (5.3%), polystemia in 32 (10.6%) and transient tachypnoea of the newborn in 52 (17.3%). POS can be a useful tool to aid clinical assessment in the diagnosis of significant non-cardiac morbidities such as sepsis, congenital pneumonia and polycythaemia in the newborn.