Diagnosis Of Congenital Heart Defects Research Articles

Investigation on ultrasound images for detection of fetal congenital heart defects.

Congenital heart defects (CHD) are one of the serious problems that arise during pregnancy. Early CHD detection reduces death rates and morbidity but is hampered by the relatively low detection rates (i.e., 60%) of current screening technology. The detection rate could be increased by supplementing ultrasound imaging with fetal ultrasound image evaluation (FUSI) using deep learning techniques. As a result, the non-invasive foetal ultrasound image has clear potential in the diagnosis of CHD and should be considered in addition to foetal echocardiography. This review paper highlights cutting-edge technologies for detecting CHD using ultrasound images, which involve pre-processing, localization, segmentation, and classification. Existing technique of preprocessing includes spatial domain filter, non-linear mean filter, transform domain filter, and denoising methods based on Convolutional Neural Network (CNN); segmentation includes thresholding-based techniques, region growing-based techniques, edge detection techniques, Artificial Neural Network (ANN) based segmentation methods, non-deep learning approaches and deep learning approaches. The paper also suggests future research directions for improving current methodologies.

Maternal obesity, interpregnancy weight changes and congenital heart defects in the offspring: a nationwide cohort study.

To evaluate the association between maternal BMI and congenital heart defects (CHDs) in the offspring when including live births, stillbirths, aborted and terminated pregnancies and to investigate if maternal interpregnancy weight changes between the first and second pregnancy influences the risk of foetal CHDs. A nationwide cohort study of all singleton pregnancies in Denmark from 2008 to 2018. Data were retrieved from the Danish Foetal Medicine Database, which included both pre- and postnatal diagnoses of CHDs. Children or foetuses with chromosomal aberrations were excluded. Odds ratios were calculated with logistic regression models for CHDs overall, severe CHDs and five of the most prevalent subtypes of CHDs. Of the 547 105 pregnancies included in the cohort, 5 442 had CHDs (1.0%). Risk of CHDs became gradually higher with higher maternal BMI; for BMI 25-29.9 kg/m2, adjusted odds ratio (aOR) 1.17 (95% CI 1.10-1.26), for BMI 30-34.9 kg/m2, aOR 1.21 (95% CI 1.09-1.33), for BMI 35-39.9 kg/m2, aOR 1.29 (95% CI 1.11-1.50) and for BMI ≥ 40 kg/m2, aOR 1.85 (95% CI 1.54-2.21). Data was adjusted for maternal age, smoking status and year of estimated due date. The same pattern was seen for the subgroup of severe CHDs. Among the atrioventricular septal defects (n = 231), an association with maternal BMI ≥ 30 kg/m2 was seen, OR 1.67 (95% CI 1.13-2.44). 109 654 women were identified with their first and second pregnancies in the cohort. Interpregnancy BMI change was associated with the risk of CHDs in the second pregnancy (BMI 2 to < 4 kg/m2: aOR 1.29, 95% CI 1.09-1.53; BMI ≥ 4 kg/m2: aOR 1.36, 95% CI 1.08-1.68). The risk of foetal CHDs became gradually higher with higher maternal BMI and interpregnancy weight increases above 2 BMI units were also associated with a higher risk of CHDs.

Photon-counting computed tomography for paediatric congenital heart defects yields images of high diagnostic quality with low radiation doses at both 70 kV and 90 kV.

Photon-counting computed tomography (PCCT) is a new clinical method that may show better diagnostic quality at lower radiation doses than conventional CT. To investigate the diagnostic quality and radiation dose of paediatric cardiovascular PCCT for diagnosis of congenital heart defects at 70kV and 90kV. This retrospective assessment included clinical non-gated paediatric PCCT examinations for assessment of congenital heart defects. Radiation doses were recorded, and overall and specific diagnostic quality (1-4) were scored by four paediatric radiologists. Agreement, differences, and trends were assessed by percent rater agreement, intraclass correlation, Mann-Whitney tests, and Jonckheere-Terpstra tests. Seventy children with congenital heart defects were examined at 70kV (n = 35; age 2days-16years; 63% boys) or 90kV (n = 35; age 2days-17years; 51% boys). All observers gave a median score of 4 (high diagnostic quality) for both 70kV and 90kV, with no difference in median values between tube voltages (allP > 0.06). Agreement for overall scores was 66-94% for 70kV and 60-77% for 90kV. Agreement for specific scores was 80-97% for 70kV and 83-89% for 90kV. Size-dependent dose estimate was 0.68 mGy (0.25-2.02 mGy) for 70kV and 1.10 mGy (0.58-2.71 mGy; P < 0.001) for 90 kV. Effective dose was 0.30 mSv (0.15-0.82 mSv) for 70 kV and 0.39 mSv (0.22-1.51 mSv; P = 0.01) for 90 kV. Paediatric cardiovascular PCCT yields images for congenital heart defects of high diagnostic quality with low radiation dose at both 70 kV and 90 kV.

Progesterone for Neurodevelopment in Fetuses With Congenital Heart Defects: A Randomized Clinical Trial.

Neurodevelopmental outcomes for children with congenital heart defects (CHD) have improved minimally over the past 20 years. To assess the feasibility and tolerability of maternal progesterone therapy as well as the magnitude of the effect on neurodevelopment for fetuses with CHD. This double-blinded individually randomized parallel-group clinical trial of vaginal natural progesterone therapy vs placebo in participants carrying fetuses with CHD was conducted between July 2014 and November 2021 at a quaternary care children's hospital. Participants included maternal-fetal dyads where the fetus had CHD identified before 28 weeks' gestational age and was likely to need surgery with cardiopulmonary bypass in the neonatal period. Exclusion criteria included a major genetic or extracardiac anomaly other than 22q11 deletion syndrome and known contraindication to progesterone. Statistical analysis was performed June 2022 to April 2024. Participants were 1:1 block-randomized to vaginal progesterone or placebo by diagnosis: hypoplastic left heart syndrome (HLHS), transposition of the great arteries (TGA), and other CHD diagnoses. Treatment was administered twice daily between 28 and up to 39 weeks' gestational age. The primary outcome was the motor score of the Bayley Scales of Infant and Toddler Development-III; secondary outcomes included language and cognitive scales. Exploratory prespecified subgroups included cardiac diagnosis, fetal sex, genetic profile, and maternal fetal environment. The 102 enrolled fetuses primarily had HLHS (n = 52 [50.9%]) and TGA (n = 38 [37.3%]), were more frequently male (n = 67 [65.7%]), and without genetic anomalies (n = 61 [59.8%]). The mean motor score differed by 2.5 units (90% CI, -1.9 to 6.9 units; P = .34) for progesterone compared with placebo, a value not statistically different from 0. Exploratory subgroup analyses suggested treatment heterogeneity for the motor score for cardiac diagnosis (P for interaction = .03) and fetal sex (P for interaction = .04), but not genetic profile (P for interaction = .16) or maternal-fetal environment (P for interaction = .70). In this randomized clinical trial of maternal progesterone therapy, the overall effect was not statistically different from 0. Subgroup analyses suggest heterogeneity of the response to progesterone among CHD diagnosis and fetal sex. ClinicalTrials.gov Identifier: NCT02133573.

Imaging of congenital heart defects with a focus on magnetic resonance imaging and computed tomography

Due to advances in diagnostics and therapy, the survival rate of patients with congenital heart defects is continuously increasing. The aim of this review is to compare various imaging modalities that are used in the diagnosis of congenital heart defects. Transthoracic echocardiography is the imaging method of choice in the presence of acongenital heart defect because of its wide availability and non-invasiveness. It can be complemented by transesophageal echocardiography, cardiac catheterization, computed tomography (CT), and magnetic resonance imaging (MRI) of the heart and vessels close to the heart. The radiation exposure of CT examinations of the heart is continuously decreasing because of improved technologies. MRI is also being continuously optimized, e.g., by the acquisition of MR angiographies without contrast medium application or athin three-dimensional (3D) visualization of the entire heart with the possibility of reconstruction in all spatial planes (whole-heart technique) as well as 2D to 4D flow. Due to the complexity of congenital heart defects and the variety of possible pathologies, the choice of imaging modality and its exact performance has to be coordinated in an interdisciplinary context and individually adapted.

Fetal cardiac screening: 1st trimester and beyond.

Congenital heart defects (CHD) are the most common birth defect and a leading cause of infant morbidity and mortality. CHD often occurs in low-risk pregnant patients, which underscores the importance of routine fetal cardiac screening at the time of the 2nd trimester ultrasound. Prenatal diagnosis of CHD is important for counseling and decision-making, focused diagnostic testing, and optimal perinatal and delivery management. As a result, prenatal diagnosis has led to improved neonatal and infant outcomes. Updated fetal cardiac screening guidelines, coupled with technological advancements and educational efforts, have resulted in increased prenatal detection of CHD in both low- and high-risk populations. However, room for improvement remains. In recent years, fetal cardiac screening for specific high-risk populations has started in the 1st trimester, which is a trend that is likely to expand over time. This review discusses fetal cardiac screening throughout pregnancy.

From phenotype to mechanism: Prenatal spectrum of NKAP mutation-related disorder and its pathogenesis inducing congenital heart disease.

NKAP mutations are associated with Hackmann-Di Donato-type X-linked syndromic intellectual developmental disorder (MRXSHD, MIM: #301039). Here, we elucidate the potential prenatal manifestation of NKAP mutation-associated disorder for the first time, alongside revealing the relationship between NKAP mutations and congenital heart defect (CHD) in the Chinese population. An NKAP mutation (NM_024528.4: c.988C>T, p.Arg330Cys) was identified in two foetuses presenting with CHD. Subsequent mechanistic exploration revealed a marked downregulation of NKAP transcription within HEK293T cells transfected with NKAP p.R330C. However, no significant change was observed at the protein level. Moreover, the mutation led to a dysregulation in the transcription of genes associated with cardiac morphogenesis, such as DHRS3, DNAH11 and JAG1. Additionally, our research determined that NKAP p.R330C affected Nkap protein intra-nuclear distribution, and binding with Hdac3. Summarily, our study strengthens NKAP mutations as a cause of CHD and prompts the reclassification of NKAP p.R330C as likely pathogenic, thereby establishing a prospective prenatal phenotypic spectrum that provides new insight into the prenatal diagnosis of CHD. Our findings also provide evidence of NKAP p.R330C pathogenicity and demonstrate the potential mechanism by which p.R330C dysregulates cardiac developmental gene transcription by altering Nkap intra-nuclear distribution and obstructing the interaction between Nkap and Hdac3, thereby leading to CHD.

Use of polygenic and clinical risk scores in wide spectrum congenital heart malformations: a diagnostic and therapeutic perspective

Worldwide, congenital heart defects (CHDs) are a leading cause of mortality and morbidity. Globally, the annual prevalence rate of CHDs is about 1.5 million. It is one of the most common life-threatening congenital malformations, with a visible difference between high-income countries (HICs) and developing countries. This difference may be attributed to the diagnostic facilities and interventions.1 Moreover, the use of genetic and clinical risk scores is less studied in this field compared to other diagnostic and therapeutic approaches. Thus, we comprehensively review the available literature on adult and pediatric syndromic or non-syndromic CHDs and propose limitations and future directions in this field. Risk factors for this fatal disease include genetic and environmental factors.2,3 Risk stratification based on prenatal diagnosis with genetic counseling has shown better clinical outcomes. The modified World Health Organization (mWHO) guidelines are among the first proposed for risk stratification based on clinical scores.4 The combination of polygenic risk scores (PRS) and clinical risk evaluation has been adopted in various populations as better diagnostic and therapeutic approaches for various diseases, including coronary artery disease,5 diabetes,6 obesity,7 and cancers.8,9 However, unlike these diseases, polygenic risk scores are rarely used for the genetic diagnosis of CHD patients. The clinical utility of polygenic risk scores for CHDs is still in the early stages and requires validation studies in different cohorts. Incorporating PRS into the clinical setting may improve CHD diagnosis and therapeutic strategies.10 Recently, an initial attempt was made to determine the clinical utility of polygenic risk scores in a large dataset of the European cohort. Data from this study suggested a high potential for PRS in distinguishing between clinical phenotypes (mild, moderate, and severe) of congenital heart malformations.11 Furthermore, this hypothesis was tested in patients with transposition of the great arteries (TGA) to assess the utility of risk stratification after arterial switch operation. The cumulative risk score was computed for single nucleotide polymorphisms (SNPs) that reached the threshold statistical significance of p&lt;1×10−5 in the initial analysis. Combined clinical and polygenic risk scores showed improved risk stratification in mild, moderate, and severe TGA phenotypes.12 Similarly, in another European cohort, the risk allele frequency was higher in the diseased group compared to the control group. However, statistical analysis suggested a non-significant association with p&gt;0.05. Interestingly, combined risk scores constructed for selected SNPs showed a significant association with the disease with a p-value of 0.002. This evidence further supports the hypothesis that the cumulative effect of polymorphisms has better diagnostic and therapeutic efficacy than individual SNPs.13 There are certain limitations to its clinical use. Firstly, social stigma and lack of awareness regarding this disease are major hurdles. Secondly, there is a need to recruit a large number of samples from different populations to validate the clinical utility of PRS. Additionally, a lack of resources in developing countries also contributes to fatal outcomes. We recommend conducting large cohort studies in different ethnic groups to predict better risk associations, develop better therapeutic strategies, and formulate management guidelines.

The Role of SHROOM3 in Congenital Heart Disease

Background and Hypothesis: Congenital heart defects (CHD) are the most common, and most frequently fatal birth defects, but most etiology remains unknown. We identified a patient with CHD and implicated a gene called SHROOM3. SHROOM3 binds Dishevelled2 which is the central cytoplasmic component of both canonical and noncanonical Wnt/planar cell polarity (PCP) signaling pathways. PCP drives cell movement and is important to embryogenesis and disruption causes CHD. We hypothesize CHD can result from SHROOM3-loss-of-function due to PCP disruption.&#x0D; Project Methods: To interrogate SHROOM3’s role in CHD and PCP we utilized an established in vivo SHROOM3-loss-of-function model, Shroom3 gene trap mice (Shroom3gt). We also utilized a loss-of-function model for PCP membrane component VANGL2, (Vangl2+/-). We assayed genetic interaction between Shroom3 and Vangl2 during cardiac development by crossing singly heterozygous null mice to produce compound heterozygous embryos, harvested embryos, and performed histologic analysis for cardiac defects. We also utilized a human in vitro SHROOM3-loss-of-function model, a CRISPR-Cas9 edited SHROOM3 knockout HELA cell line. We assayed cell movement using a scratch assay.&#x0D; Results: Compound heterozygous Shroom3+/gt;Vangl2+/- embryos had a three fold increase in heart defects compared to singly heterozygous Shroom3+/gt;Vangl2+/+ or Shroom3+/+;Vangl2+/- embryos (3 of 19 or 15.7%, versus 1 of 17 or 5.2%, and 1 of 19 or 4.8%, respectively), demonstrating a trend towards genetic interaction between SHROOM3 and VANGL2/PCP during cardiac development. The scratch assays demonstrated cell movement defects due to SHROOM3-loss-of-function consistent with increased cell movement.&#x0D; Conclusion and Potential Impact: We demonstrate SHROOM3 interacts with Wnt/PCP during cardiac development. Further interrogation of SHROOM3’s role in Wnt signaling will provide insight into the mechanisms by which a novel CHD candidate participates in cardiogenesis and will improve CHD diagnosis, management, and therapeutic development.

Patient-reported barriers to prenatal diagnosis of congenital heart defects: A mixed-methods study.

To ascertain patient-reported, modifiable barriers to prenatal diagnosis of congenital heart defects (CHDs). This was a mixed-methods study among caretakers of infants who received congenital heart surgery from 2019 to 2020 in the Chicagoland area. Quantitative variables measuring sociodemographic characteristics and prenatal care utilization, and qualitative data pertaining to patient-reported barriers to prenatal diagnosis were collected from electronic health records and semi-structured phone surveys. Thematic analysis was performed using a convergent parallel approach. In total, 160 caretakers completed the survey, 438 were eligible for survey, and 49 (31%) received prenatal care during the COVID-19 pandemic. When comparing respondents and non-respondents, there was a lower prevalence of maternal Hispanic ethnicity and a higher prevalence of non-English/Spanish-speaking households. Of all respondents, 34% reported an undetected CHD on ultrasound or echocardiogram, while 79% reported at least one barrier to prenatal diagnosis related to social determinants of health. Among those social barriers, the most common were difficulty with appointment scheduling (n=12, 9.5%), far distance to care/lack of access to transportation (n=12, 9.5%) and difficulty getting time off work to attend appointments (n=6, 4.8%). The latter two barriers were correlated. While technical improvements in the detection of CHDs remain an important area of research, it is equally critical to produce evidence for interventions that mitigate barriers to prenatal diagnosis due to social determinants of health.

Fetal premature atrial contractions: natural course, risk factors and adverse outcome.

Fetal premature atrial contractions (PAC) are usually benign but may be associated with congenital heart defect (CHD) and tachyarrhythmia, which in turn carry a risk of cardiac failure and fetal death. We aimed to explore the frequency of adverse outcome and to identify risk factors for tachyarrhythmia in pregnancies complicated by fetal PAC. This was a retrospective cohort study of fetuses diagnosed with PAC at two academic centers in Amsterdam, The Netherlands, between 2007 and 2022. Cases with a congenital anomaly and those with a prior diagnosis of CHD or other arrhythmias were excluded. M-mode and Doppler tracings were reanalyzed and the frequency of PAC was recorded. The incidence of the following adverse outcomes was examined: underlying CHD not identified at the 20-week fetal anomaly scan, tachyarrhythmia, other arrhythmia, administration of antiarrhythmic therapy and death. Risk factors for tachyarrhythmia were analyzed using odds ratios (OR). In 24.1% of 1439 referred cases, PAC resolved before confirmation at the fetal medicine unit (FMU). Of the 939 included cases with confirmed PAC, the total incidence of adverse outcome was 6.8% (64/939). CHD was diagnosed in 14 (1.5% (95% CI, 0.9-2.5%)) cases, of which eight were diagnosed prenatally and six postnatally. Compared with baseline, the incidence of CHD was higher in the presence of fetal PAC (OR, 1.8 (95% CI, 1.0-3.3); P = 0.034). Tachyarrhythmia occurred prenatally and/or postnatally in 32 (3.4%) cases, of which eight (25.0%) showed signs of cardiac failure, and in 23 (71.9%) cases, antiarrhythmic therapy was required. No cases of tachyarrhythmia led to fetal or infant death. Risk factors for tachyarrhythmia were PAC with short runs of supraventricular tachycardia (OR, 98.7), blocked PAC (OR, 30.3), PAC in bigeminy (OR, 21.8), frequent PAC (one per 5-10 beats) (OR, 6.9), signs of cardiac failure (OR, 14.2) and the presence of a foramen ovale aneurysm (OR, 5.0). PAC are generally benign and often resolve spontaneously. However, fetuses with an irregular heart rhythm should be referred for advanced ultrasonography, which should focus on classifying the type of PAC and risk of adverse outcome. When risk factors for tachyarrhythmia are identified, weekly fetal heart-rate monitoring is advised until resolution of the PAC. In the absence of risk factors, standard obstetric care may be sufficient, with additional instructions to report reduced fetal movements. Should tachyarrhythmia or cardiac failure develop, referral back to the FMU is indicated. © 2023 The Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology.

Association Between Maternal Factors in Early Pregnancy and Congenital Heart Defects in Offspring: The Japan Environment and Children's Study.

Background Many prenatal factors are reported to be associated with congenital heart defects (CHD) in offspring. However, these associations have not been adequately examined using large-scale birth cohorts. Methods and Results We evaluated a data set of the Japan Environmental and Children's Study. The primary outcome was a diagnosis of CHD by age 2 years. We defined the following variables as exposures: maternal baseline characteristics, fertilization treatment, maternal history of diseases, socioeconomic status, maternal alcohol intake, smoking, tea consumption, maternal dietary intake, and maternal medications and supplements up to 12 weeks of gestation. We used multivariable logistic regression analysis to assess the associations between various exposures and CHD in offspring. A total of 91 664 singletons were included, among which 1264 (1.38%) had CHD. In multivariable analysis, vitamin A supplements (adjusted odds ratio [aOR], 5.78 [95% CI, 2.30-14.51]), maternal use of valproic acid (aOR, 4.86 [95% CI, 1.51-15.64]), maternal use of antihypertensive agents (aOR, 3.80 [95% CI, 1.74-8.29]), maternal age ≥40 years (aOR, 1.59 [95% CI, 1.14-2.20]), and high maternal hemoglobin concentration in the second trimester (aOR, 1.10 per g/dL [95% CI, 1.03-1.17]) were associated with CHD in offspring. Conclusions Using a Japanese large-scale birth cohort study, we found 6 maternal factors to be associated with CHD in offspring.

Association Between Prenatal Diagnosis and Age at Surgery for Noncritical and Critical Congenital Heart Defects.

The relationship between the prenatal diagnosis of congenital heart defects (CHDs) and age at CHD surgery is poorly understood, despite the known relationships between age at surgery and long-term outcomes. The objective of this study was to determine the associations between prenatal diagnosis of CHD and age at surgery, and whether these associations differ for critical and noncritical CHDs. This is a cohort analysis of patients aged 0 to 9 years who received their initial cardiac surgery at Ann & Robert H. Lurie Children's Hospital of Chicago between 2015 and 2021 with prenatal diagnosis as the exposure variable. All data were obtained from the locally maintained Society of Thoracic Surgeons Congenital Heart Surgery Database at Lurie Children's Hospital. We used multivariable fixed effects regression models to estimate the strength of the association of prenatal diagnosis with age at surgery among patients with critical (surgery ≤60 days) and noncritical (surgery >60 days) CHDs. Of 1131 individuals who met inclusion criteria, 532 (47%) had a prenatal diagnosis, 428 (38%) had critical CHDs, 533 (47%) were female, and the median age at surgery was 119 days (interquartile range, 11-309 days). After controlling for demographics, comorbidities, and surgical complexity, the mean age at surgery was significantly younger in those with prenatally versus postnatally diagnosed critical CHD (7.1 days sooner, P<0.001) and noncritical CHDs (atrial septal defects [12.4 months sooner, P=0.037], ventricular septal defects [6.0 months sooner, P<0.003], and noncritical coarctation of the aorta [1.8 months sooner, P=0.010]). Younger age at CHD surgery, which is associated with postsurgical neurodevelopmental and physical outcomes, is significantly associated with prenatal CHD diagnosis. This relationship was identified for both critical and noncritical CHDs.

P49: Are We Timely Detecting Congenital Heart Defects in Bogotá and Cali (Colombia)?

Background: Congenital heart defects (CHD) are the main cause of infant mortality. Properly attending CHD demands strategies to improve prenatal diagnosis, planning birth on adequate hospitals, assure timely clinical care for complex cases, and guarantee follow-up and health care access for patients lifelong. Accordingly, Colombian normativity dictates that all pregnant women must have at least a first and second trimester screening with fetal heart examination, 7 to 10 prenatal control visits, and psychological support and information on voluntary termination. The aim of this study was to characterize demographics and prenatal care of expectant mothers of pediatric patients with a confirmed CHD diagnosis. Methods: This study was prospective and observational with an incidental sampling of 134 CHD patients treated at Fundación Cardioinfantil (Bogotá), Hospital Universitario San Ignacio (Bogotá), and Clinica Imbanaco (Cali) in Colombia. Women, after consent, were interviewed about demographics, prenatal care, pre and postnatal diagnosis, and children clinical evolution. We analyzed CHD according to their complexity (simple, moderate or complex) and clinical presentation (isolated, multiple anomalies or syndromes). Data were collected using the REDCap tool, descriptive statistics were calculated using Excel. Variables were expressed as mean (range). Results: 43% of all CDH were prenatally detected (66% of complex CHD were only detected postnatally). Mothers were young (mean age 28.1 years, DE 6.2), 82.1% had completed high school, 71.6% had low-income and 82.1% lived in urban areas with the father. Only 3% had twin pregnancies and 19% had chronic comorbidities (hypertensive disorders, diabetes, or hypothyroidism). On average, mothers had 6.8 prenatal control visits (DE 2.6) and 4.6 ultrasound scans (DE 2.5). As for the proper moment for ultrasound scans, only 61.1% of first-trimester scans and 58.9% of second-trimester scans were on time according to normative. 41% of women did not have psychological support, and 49% did not receive information on voluntary termination. About labor, 45% were spontaneous and 55% cesarian deliveries. Regarding babies (50.7% females), 24.0% were small for gestational age and 25.4% were born before 37 weeks. Most babies had an isolated CHD (15% simple, 76% complex), 5% had multiple anomalies, and 5% syndromes. Comparing prenatal diagnosis (ultrasound scans) and postnatal diagnosis, only in 22% of cases we found a complete agreement, and in 56% CDH was not reported on the ultrasound exams. Conclusion: Ultrasonography is a useful tool to detect CHD, but improving early detection requires better and timely access, especially for complex cases. Colombian normative for prenatal care is not working as expected. Delfos program is funded by Minciencias (Contract No.120484267276).

Classification of normal and abnormal fetal heart ultrasound images and identification of ventricular septal defects based on deep learning.

Congenital heart defects (CHDs) are the most common birth defects. Recently, artificial intelligence (AI) was used to assist in CHD diagnosis. No comparison has been made among the various types of algorithms that can assist in the prenatal diagnosis. Normal and abnormal fetal ultrasound heart images, including five standard views, were collected according to the International Society of Ultrasound in Obstetrics and Gynecology (ISUOG) Practice guidelines. You Only Look Once version 5 (YOLOv5) models were trained and tested. An excellent model was screened out after comparing YOLOv5 with other classic detection methods. On the training set, YOLOv5n performed slightly better than the others. On the validation set, YOLOv5n attained the highest overall accuracy (90.67 %). On the CHD test set, YOLOv5n, which only needed 0.007 s to recognize each image, had the highest overall accuracy (82.93 %), and YOLOv5l achieved the best accuracy on the abnormal dataset (71.93 %). On the VSD test set, YOLOv5l had the best performance, with a 92.79 % overall accuracy rate and 92.59 % accuracy on the abnormal dataset. The YOLOv5 models achieved better performance than the Fast region-based convolutional neural network (RCNN) & ResNet50 model and the Fast RCNN & MobileNetv2 model on the CHD test set (p<0.05) and VSD test set (p<0.01). YOLOv5 models are able to accurately distinguish normal and abnormal fetal heart ultrasound images, especially with respect to the identification of VSD, which have the potential to assist ultrasound in prenatal diagnosis.

Lack of consensus on the definition of severe congenital heart defects for research: A challenge for comparing international studies.

Lack of consensus on the definition of severe congenital heart defects for research: A challenge for comparing international studies.

Нейропсихічні розлади в дітей з вродженими вадами серця

The article is devoted to the actual problem of children’s neurology, children’s cardiology and children’s cardiac surgery - namely, the features of neuropsychological development (NPD) in children with congenital heart defects (CHD). Purpose - to review modern research on the diagnosis of NPD in children with CHD, which is a necessary condition for optimizing patient care and developing a rehabilitation plan. The topicality of the topic is due to the lack of research on the early diagnosis of the violation of the NPD of this category of children. Consider features of development and damage to the brain in children with congenital heart defects. The relationship between the action of various epigenetic factors and pathophysiological factors that influence neuropsychological development in children with CHD is highlighted. Features of diagnosis of NPD in children with CHD using neuromonitoring, scales and tests (near-infrared spectroscopy, electroencephalography, magnetic resonance imaging, ultrasound, Bailey scales, Peabody scale) are shown. Conclusions. The relationship between the type of heart defect and the features of the child’s NPD has been determined. The adverse effect of cyanotic heart defects on the child’s neurodevelopment has been confirmed. Early diagnosis of CHD, including prenatal, and timely surgical correction at an early age significantly improve the results of surgical treatment and exert a positive influence on further NPD. The emphasis is on continuing the search for early diagnostic markers in order to optimize the treatment of NPD in children with CHD, as well as the development of effective rehabilitation methods for this category of children. No conflict of interests was declared by the authors.

Impact of Fetal Echocardiography on Altering Course of Action Following A Prenatal Diagnosis of Congenital Heart Disease-A Thought Analysis

Objective: To assess the impact of fetal echocardiography in altering the course of action for neonatal cardiac expertise and services available in Pakistan following an antenatal diagnosis of congenital heart defect (CHD).&#x0D; Study Design: Cross-sectional study.&#x0D; Place and Duration of Study: Pediatric Cardiology Unit, Armed Forces Institute of Cardiology &amp; National Institute of Heart Diseases, Rawalpindi Pakistan, from Feb 2020 to Sep 2021.&#x0D; Methodology: Fetuses aged 18 to 38 weeks of gestational age referred to the Pediatric Cardiac Unit due to risk of or suspicion of congenital heart disease underwent fetal cardiac echo. Data were collected and reviewed retrospectively to seek any impact of the antenatal diagnosis on post-natal planning.Results: The mean age of the mothers was 29.79±5.24 years (range, 17-47 years), and the mean gestational age at which the fetal echocardiography examination was performed was 27.29±4.47weeks (range: 12–38 years). Of the 609 pregnancies, fetal echocardiogram evaluation was performed, and sixty-three (10.3%) fetal echocardiograms were abnormal. Of the 63, only 06(9.5%) returned to the neonatal cardiac unit for follow-up and treatment in the first ten days of life.&#x0D; Conclusion: The real impact of fetal echocardiography is possible only with the availability of well-developed, readily accessible fetal and neonatal cardiac services. Poverty and a struggling healthcare infrastructure confound the benefits.

Evaluation of the heart sounds in children using a Doppler Phonolyser

BackgroundHeart auscultation is an easy and inexpensive tool for early diagnosis of congenital heart defects. In this regard, a simple device which can be used easily by physicians for heart murmur detection will be very useful. The current study was conducted to evaluate the validity of a Doppler-based device named “Doppler Phonolyser” for the diagnosis of structural heart diseases in pediatric patients. In this cross-sectional study, 1272 patients under 16 years who were referred between April 2021 and February 2022, to a pediatric cardiology clinic in Mofid Children Hospital, Tehran, Iran, were enrolled. All the patients were examined by a single experienced pediatric cardiologist using a conventional stethoscope at the first step and a Doppler Phonolyser device at the second step. Afterward, the patient underwent trans-thoracic echocardiography, and the echocardiogram results were compared with the conventional stethoscope as well as the Doppler Phonolyser findings.ResultsSensitivity of the Doppler Phonolyser for detecting congenital heart defects was 90.5%. The specificity of the Doppler Phonolyser in detecting heart disease was 68.9% in compared with the specificity of the conventional stethoscope, which was 94.8%. Among the most common congenital heart defects in our study population, the sensitivity of the Doppler Phonolyser was 100% for detection of tetralogy of Fallot (TOF); In contrast, sensitivity of both the conventional stethoscope and the Doppler Phonolyser was relatively low for detecting atrial septal defect.ConclusionsDoppler Phonolyser could be useful as a diagnostic tool for the detection of congenital heart defects. The main advantages of the Doppler Phonolyser over the conventional stethoscope are no need for operator experience, the ability to distinguish innocent murmurs from the pathologic ones and no effect of environmental sounds on the performance of the device.

Scientific Abstracts from the Phoenix Children’s 13th Annual Fetal Cardiology Symposium December 8–11, 2022 at The Phoenician, Scottsdale, AZ

Best Abstract AwardPatient-Reported Barriers to Prenatal Diagnosis of Congenital Heart Defects: A Prospective, Mixed-Methods StudyAuthors: Sivakumar, Adithya, BE;1 Burton, Shelvonne;2 Gandhi, Rupali, MD, JD;3 Yee, Lynn, MD, MPH;4 Johnson, Joyce, MD, MSc;5 Patel, Angira, MD, MPH;2 Woo, Joyce, MD, MS.21Rush University, Chicago, IL. 2Ann & Robert H. Lurie Children’s Hospital, Northwestern University Feinberg School of Medicine, Chicago, IL. 3Advocate Children’s Hospital, Chicago, IL. 4Northwestern University Feinberg School of Medicine, Chicago, IL. 5Johns Hopkins All Children’s Hospital, Baltimore, MD. Research performed at Ann & Robert H. Lurie Children’s Hospital, Northwestern University Feinberg School of Medicine, Chicago, IL.Background/Hypothesis: The sensitivity of fetal echocardiography in the prenatal diagnosis of congenital heart defects (CHDs) approaches 90%, yet national prenatal diagnosis rates of CHD are only 30–50%. Previous analyses with large administrative data have revealed socioeconomic factors, such as public insurance, to be associated with disparate prenatal diagnosis rates. More granular, prospective data can identify modifiable barriers to prenatal CHD diagnosis. This study elucidates patient-reported barriers to prenatal CHD diagnosis within the Chicagoland area. Materials and Methods: Semi-structured telephone surveys were administered to mothers of children who had CHD surgery at Lurie Children’s Hospital between 2019–2020. The survey was developed using a mixed-methods, convergent parallel design with closed and open-ended questions about perceived barriers to prenatal CHD diagnosis. Quantitative data were summarized with descriptive statistics, while qualitative data were coded to thematic domains. Results: In total, 39 respondents completed the survey. Of these, 26% (n = 10) were of Hispanic ethnicity, 5% (n = 2) were of non-Hispanic Black race, 67% (n = 26) received fetal echocardiogram, and 64% (n = 25) reported a barrier to prenatal diagnosis. Reported barriers were matched into three themes (Fig. 1): perceived inefficiency with prenatal care (n = 7, 18%), difficulty obtaining access to a fetal echocardiogram (n = 5, 13%), and no fetal echocardiogram obtained (n = 13, 33%). Within these themes, responses included missed diagnoses by obstetric ultrasound or fetal echocardiogram (n = 12), lack of prenatal or maternal–fetal medicine care (n = 2), difficulty obtaining insurance approval (n = 2), and distance to care (n = 2). Of the reported barriers, only two were specifically related to the COVID-19 pandemic. Conclusions: Barriers to prenatal diagnosis of CHD are not limited to missed diagnoses by prenatal imaging. Public health barriers such as difficulty accessing obstetric or maternal–fetal-medicine care, geographic barriers such as distance to care, and systems-level barriers such as insurance approval, are modifiable targets for intervention by institutional, local, and regional healthcare policy.Fig. 1Categorization of barriers reported among mothers of children diagnosed with congenital heart diseaseFull size imageTable 1 HLHS characteristics and outcomes by FR-VTI subgroupsFull size table