Prevalence Of Congenital Heart Defects Research Articles

Hypothyroidism in Patients with Down Syndrome: Prevalence and Association with Congenital Heart Defects.

This population-based study aimed to assess the prevalence of congenital hypothyroidism (CH) and overt hypothyroidism (OH) and their association with congenital heart defects (CHDs) in patients with Down syndrome (DS). The population included all live births residing in Tuscany (Italy) diagnosed with DS recorded in the Registry of Congenital Defects and in the Registry of Rare Diseases of Tuscany in the years 2003-2017. The prevalence of CH and OH in DS patients was calculated by sex and by period. The association of CH and OH with CHDs in DS patients was assessed using multivariate logistic regression. The cohort included 228 subjects. The prevalence of CH and OH was 11.4% (95%CI: 7.4-16.7%) and 12.7% (95%CI: 8.5-12.3%), respectively, with no significant difference by sex. A significant increase in the prevalence of CH (p < 0.0001) was found in the years 2010-2017 compared to the previous period, and among preterm infants (p = 0.009). The presence of CH was associated with a higher prevalence of CHDs (adjusted OR = 2.24, p = 0.082). A significant association between ventricular septal defects (VSDs) and the occurrence of OH (adjusted OR = 3.07, p = 0.025) was also observed. This study confirmed the higher prevalence of both CH and OH in DS compared to the general population. Furthermore, the risk of association between DS and CHDs was higher in the presence of CH, while VSDs are associated with OH, providing relevant insights into the epidemiology of hypothyroidism in DS and associated anomalies.

Cardiac adaptation and malformation in twin-twin transfusion syndrome and selective fetal growth restriction: A systematic review.

This systematic review explores cardiac adaptation in monochorionic (MC) twins with twin-twin transfusion syndrome (TTTS) or selective fetal growth restriction (sFGR) and assesses the risk of congenital heart defects (CHDs). Adhering to PRISMA guidelines, 63 studies were reviewed (49 on cardiac adaptation, 13 on CHD, one on both). A narrative synthesis of cardiac adaptation patterns was performed. Additionally, a meta-analysis compared the livebirth prevalence of CHD in TTTS and sFGR against uncomplicated MC twins. In TTTS recipients, cardiac function may be impaired for diastolic, systolic, as well as global functions, while in donors, cardiac function is generally preserved. In sFGR, large twins may show hypertrophic cardiomyopathy, and small twins may show impaired systolic function. Co-occurrence of TTTS and sFGR magnifies cardiac impact but is often underreported. Meta-analysis for CHD prevalence revealed a relative risk ratio of 3.5 (95% CI: 2.5-4.9) for TTTS and 2.2 (95%CI: 1.3-3.5) for sFGR compared with uncomplicated MC twins. This study highlights the well-documented cardiac adaptation in TTTS, contrasting with limited understanding in sFGR. Elevated CHD risks were observed in both conditions. Enhanced cardiovascular surveillance is warranted in complicated MC twin pregnancies. Future research should explore cardiac adaptation in sFGR and its long-term consequences.

Cardiac Complications in Trisomy 21 Patients in a Secondary Hospital: A Descriptive Study.

This retrospective study addresses the intersection of Down syndrome (DS) and congenital heart defects (CHD), including the prevalence and characteristics of CHD in trisomy 21 patients at a secondary hospital in the Eastern Province of Saudi Arabia. The study investigated the electronic medical records retrieved from the Qatif Central Hospital database, specifically targeting individuals diagnosed with DS (identified by the International Classification of Diseases, Tenth Revision (ICD-10) code Q90.9) between March 2012 and March 2022. The primary aim was to detect cardiac anomalies diagnosed via echocardiography performed at the hospital, along with subsequent follow-up assessments and documented patient outcomes. Among the 161 patients reviewed, the study revealed a significant prevalence of diagnosed heart defects through echocardiograms, constituting approximately 72.7%. Notably, patent ductus arteriosus was the most common condition, found in 29.81% of cases, followed by atrial septal defect (27.95%) and atrioventricular septal defect (17.39%). Among the study participants, 22.98% required surgical intervention. Unfortunately, mortality impacted 32.3% of individuals, while the majority (60.87%) remained alive. In addition, a small percentage (6.83%) discontinued follow-up within our center. This study contributes significant data on cardiac anomalies in DS patients in Saudi Arabia, highlighting a high prevalence of CHD with specific patterns of anomalies. The need for early diagnosis, timely surgical intervention, and ongoing management is evident. These findings provide a foundation for improving clinical practices and shaping public health policies tailored to the needs of this population in Saudi Arabia and similar regions.

Діти з дефектами генів - група ризику щодо розвитку аномалій серцево-судинної системи

To date, the prevalence of congenital heart defects (CHD), the level of disability and mortality from them in children remains an unsolved problem in pediatrics, despite the improvement of preventive measures, diagnostics and treatment in pediatric cardiology. There are a number of genetic diseases that are manifested by congenital anomalies of the cardiovascular system. Purpose - to analyze the abnormalities of the cardiovascular system in children with gene defects for the early diagnosis of genetic diseases in patients and the detection of congenital pathology of the heart and blood vessels in them, followed by their treatment tactics. This article describes a number of genetic syndromes in children, in which congenital anomalies of the heart and blood vessels are the most common. The characteristics of each of the syndromes include its definition, clinical symptoms with an emphasis on the external signs of the patient, the study of abnormalities of the cardiovascular system in this genetic disease, the examination plan for the patient and genetic testing used for the accuracy of the diagnosis. Conclusions. Based on the results of our analysis, we can conclude that there is a certain regularity between genetic diseases in children and the development of CHD in them, according to which certain CHD are formed with certain gene defects. Knowledge of the main clinical symptoms, especially external dysmorphism, in such patients helps in faster diagnosis and treatment of a genetic disease, in particular CHD. The research was carried out in accordance with the principles of the Helsinki Declaration. The study protocol was approved by the Local Ethics Committee of the participating institution. The informed consent of the patient was obtained for conducting the studies. No conflict of interests was declared by the authors.

Associations of maternal exposure to multiple plasma trace elements with the prevalence of fetal congenital heart defects: A nested case-control study

BackgroundScanty knowledge prevails regarding the combined impact of multiple plasma trace elements and main contributors on the prevalence of congenital heart defects (CHDs) in offspring. Thus, we performed a nested case-control analysis in a neonates cohort to investigate this important public health issue. MethodsWe selected 164 pairs of cases and non-malformed controls from live births registered in the parent cohort (n = 11,578) at the same hospital. Plasma levels of 14 trace elements were determined by inductively coupled plasma-mass spectrometry. The odds ratios (ORs) of exposure were compared between cases and controls. Bayesian Kernel Machine Regression (BKMR) and Quantile g-Computation (QgC) models were employed to assess the cumulative effect of exposure to trace elements. ResultsWe found positive associations and linear dose-response relationships between plasma Pb and Sn and CHD. BKMR models indicated that the overall effect of the trace element mixture was associated with CHDs below the 45th percentile or above the 50th percentile, and the combined effect was primarily attributed to Sn and Pb. The QgC model indicated significantly increased odds of CHD with simultaneous exposure to all studied trace elements (OR: 2.19, 95%CI: 1.44–3.33). ConclusionsThis study is the first to report an association between elevated levels of mixed trace elements in maternal plasma with an increased prevalence of fetal CHDs, particularly in the case of Pb and Sn. Findings from this study provide further evidence of the important of heavy metal pollution to human health, and can help stakeholders prioritize policies and develop interventions to target the leading contributors to human exposure.

Editorial: Congenital Heart Defects in Pakistan: Addressing Challenges and Enhancing Care

Introduction:&#x0D; Congenital heart defects (CHDs) are a significant health concern worldwide, affecting millions of infants each year. In Pakistan, the prevalence of CHDs is alarmingly high, posing a considerable burden on the healthcare system and placing numerous families in distress. This editorial aims to shed light on the challenges associated with CHDs in Pakistan and highlight the need for improved strategies and resources to enhance the care and outcomes for affected individuals.&#x0D; &#x0D; High Prevalence:&#x0D; Pakistan witnesses a high incidence of CHDs, with estimates suggesting that around 50,000 children are born with these defects every year [1]. The exact causes for this high prevalence are not yet fully understood, but factors such as consanguineous marriages, maternal malnutrition, exposure to environmental toxins, and limited access to prenatal care may contribute to the increased occurrence [2].&#x0D; &#x0D; Challenges Faced:&#x0D; Several challenges impede the effective management of CHDs in Pakistan. Limited awareness among the general population, particularly in rural areas, hampers early detection and timely intervention. Late diagnosis often leads to complications and reduced chances of successful treatment. Moreover, the shortage of specialized pediatric cardiac centers and trained healthcare professionals further exacerbates the problem [3].&#x0D; &#x0D; Inadequate Infrastructure:&#x0D; Pakistan faces a scarcity of dedicated pediatric cardiac centers equipped with the necessary technology and facilities to diagnose and treat CHDs effectively. The existing infrastructure is insufficient to cater to the overwhelming demand, resulting in long waiting times and delayed interventions. Investment in establishing more centers with state-of-the-art equipment and skilled medical staff is essential to ensure timely and accessible care for affected children throughout the country.&#x0D; Financial Barriers:&#x0D; The cost of treating CHDs can be exorbitant, making it unaffordable for many families in Pakistan. Surgical interventions and long-term medical management impose a significant financial burden, further compounded by the lack of health insurance coverage for congenital conditions. Public and private collaborations, along with governmental initiatives, are needed to develop financial assistance programs and insurance schemes that provide necessary support to families affected by CHDs [4].&#x0D; &#x0D; Improving Awareness and Education:&#x0D; Raising awareness about CHDs is crucial in order to promote early diagnosis, timely intervention, and prevention strategies. Public health campaigns, educational programs in schools and colleges, and community outreach initiatives should be implemented to disseminate information about CHDs, their signs and symptoms, and the importance of seeking medical attention. Empowering healthcare professionals with specialized training and knowledge in pediatric cardiology is also essential to enhance the capacity for accurate diagnosis and appropriate management[5].&#x0D; &#x0D; Collaboration and Research:&#x0D; Strengthening collaboration between healthcare institutions, researchers, and policymakers is vital to tackle the challenges associated with CHDs effectively. Increased investment in research on the causes, prevention, and treatment of CHDs in the Pakistani context can lead to significant advancements in understanding the disease and developing targeted interventions. Furthermore, fostering international collaborations can facilitate knowledge exchange and promote best practices in CHD management.&#x0D; &#x0D; Conclusion:&#x0D; Congenital heart defects present a significant healthcare challenge in Pakistan, affecting a large number of children and placing a strain on families and the healthcare system. Addressing the challenges associated with CHDs requires a comprehensive approach that includes improved infrastructure, enhanced awareness, financial support, and collaborative research efforts. By investing in these areas, Pakistan can pave the way for better outcomes and improved quality of life for individuals with CHDs.

Pregnancy Termination and Postnatal Major Congenital Heart Defect Prevalence After Introduction of Prenatal Cardiac Screening

Prenatal cardiac screening of the first and second trimesters has had a major impact on postnatal prevalence of congenital heart defects (CHDs), rates of termination of pregnancy (TOP), and outcomes among children born alive with CHDs. To examine the prenatal and postnatal incidence of major CHDs (ie, necessitating intervention within the first year of life), detection rate trends, rates of TOP, and the association of cardiac screening with postnatal outcomes. In this cross-sectional study, 3827 fetuses with antenatally diagnosed major CHDs in the Czech Republic (population 10.7 million) between 1991 and 2021 were prospectively evaluated with known outcomes and associated comorbidities. Prenatal and postnatal prevalence of CHD in an unselected population was assessed by comparison with a retrospective analysis of all children born alive with major CHDs in the same period (5454 children), using national data registry. Data analysis was conducted from January 1991 to December 2021. Prenatal detection and postnatal prevalence of major CHDs and rate of TOPs in a setting with a centralized health care system over 31 years. A total of 3 300 068 children were born alive during the study period. Major CHD was diagnosed in 3827 fetuses, of whom 1646 (43.0%) were born, 2069 (54.1%) resulted in TOP, and 112 (2.9%) died prenatally. The prenatal detection rate increased from 6.2% in 1991 to 82.8% in 2021 (P < .001). Termination of pregnancy decreased from 70% in 1991 to 43% (P < .001) in 2021. Of 627 fetuses diagnosed in the first trimester (introduced in 2007), 460 were terminated (73.3%). Since 2007, of 2066 fetuses diagnosed in the second trimester, 880 (42.6%) were terminated, resulting in an odds ratio of 3.6 (95% CI, 2.8-4.6; P < .001) for TOP in the first trimester compared with the second trimester. Postnatal prevalence of major CHDs declined from 0.21% to 0.14% (P < .001). The total incidence (combining prenatal detection of terminated fetuses with postnatal prevalence) of major CHD remained at 0.23% during the study period. In this cross-sectional study, the total incidence of major CHD did not change significantly during the 31-year study period. The prenatal detection of major CHD approached 83% in the current era. Postnatal prevalence of major CHD decreased significantly due to early TOPs and intrauterine deaths. The introduction of first trimester screening resulted in a higher termination rate in the first trimester but did not revert the overall decreasing trend of termination for CHDs in general.

Prevalence of Congenital Heart Defects in Term Children in the First Month of Life in the Arkhangelsk Region

The article presents an analysis of the incidence of congenital heart defects in children of the first month of life in one of the cities of the Arkhangelsk region for 5 years. The results of echocardiography of full-term infants in the first month of life, carried out in 2018-2022, were analyzed. The total number of full-term children in the first month of life who underwent echocardiography during the reporting period was 1112 people. The incidence of all CHD was 3.1%, while the most common CHD was atrial septal defect and accounted for 47% of all identified CHD. In second place in terms of prevalence is the defect of the interventricular septum, in the third place is the patent ductus arteriosus. Coarctation of the aorta was detected in 5.9% of patients; it was not critical and required only dynamic monitoring. Stenosis of the pulmonary artery was not detected during this period of time, but moderate stenosis of the branches of the pulmonary arteries (right and left) was detected in 0.36% of patients due to narrowing of their trunks. The prevalence of complex combined heart defects was 1.8% (tetralogy of Fallot with severe pulmonary artery stenosis, double outlet vessels from the right ventricle).

Gender differences in congenital heart defects: a narrative review.

Congenital heart defects (CHD) represent the most frequent human birth defects, occurring in almost 1% of all live newborns. Understanding the effects of gender in the prevalence of CHD has a key role in defining personalized prevention, disease identification, prognosis definition and individualized therapeutic strategies. Recently, the attempt to achieve a holistic approach to patients with CHD cannot be separated from accounting for existing gender differences. The main aim of this narrative review is to provide an overview of gender differences in the epidemiology of CHD. A standardized research through three electronic databases (PubMed/Scopus/Embase) was performed using a combination of keywords and Medical Subject Headings (MeSH) terms to include congenital heart diseases, gender difference(s), prevalence. Observational, prospective, population based and retrospective studies reporting gender differences in the prevalence of CHD were included. Conference abstracts were excluded as well as studies not written in English language and non-human studies. Further relevant papers were selected by hand-searching of the references list of selected articles. Search results returned 1,904 papers. Screening articles by title and abstracts resulted in 17 articles for full text review. Of these, 10 were included for analysis and additional 11 articles were included after hand searching review of reference lists. A total of 21 articles were included. Our narrative review confirms that there is a significant gender variation in specific CHD subgroups. In particular, we summarized the evidence that there is a significantly greater risk for males to be born with severe CHD and for females with milder CHD subtypes. The etiology of the different distribution of CHD among genders is still under investigation and a deeper understanding of how gender influences the risk for CHD is warranted. In the future, a gender-based management of CHD should become an established medical approach.

A reflection of Africa's cardiac surgery capacity to manage congenital heart defects: a perspective.

Congenital heart defects (CHDs) are birth abnormalities that may drastically alter the structure and functionality of the heart. For 70% of infants with congenital disorders to survive or maintain a better quality of life, surgery is necessary. Over 500000 of the 1.5 million CHD cases reported annually, or 1% of all live births, occur in Africa, according to the WHO. A surmounted 90% of these patients are from Africa, and as a consequence, 300000 infants die annually as a result of poor care or difficulty accessing adequate healthcare. However, the high prevalence of CHDs, precipitated by a plethora of aetiologies worldwide, is particularly pronounced in Africa due to maternal infectious diseases like syphilis and rubella amongst the pregnant populace. In low- and middle-income countries, especially in Africa, where foreign missions and organizations care for the majority of complicated cardiac surgical patients, access to secure and affordable cardiac surgical therapy is a substantial issue. Interventions for CHDs are very expensive in Africa as many of the continent's domiciles possess low expenditures and funding, thereby cannot afford the costs indicated by associated surgical treatments. Access to management and healthcare for CHDs is further hampered by a lack of trained surgical personnel, specialized tools, infrastructure, and diagnostic facilities in Africa.

Cardiovascular Manifestations of Turner Syndrome: Phenotypic Differences Between Karyotype Subtypes.

Turner syndrome (TS) is a genetic disorder presenting in phenotypic females with total or partial monosomy of the X chromosome. Cardiovascular abnormalities are common, including congenital heart defects (CHD) and aortic dilation. Although mosaic TS is suspected to have less severe phenotype as compared to non-mosaic TS, differences in cardiovascular manifestations between karyotypes are not well studied. This is a single-center retrospective cohort study including patients with TS seen from 2000 to 2022. Demographic data, chromosomal analysis, and imaging were reviewed. Karyotypes were categorized as monosomy X (45X), 45X mosaicism, isochromosome Xq, partial X deletions, ring X(r(X)), TS with Y material, and others. Prevalence of CHD and aortic dilation were compared between monosomy X and other subtypes using Pearson's chi-square test and Welch two-sample t-test. We included 182 TS patients with median age 18 (range 4-33) years. CHD was more common in monosomy X as compared with others (61.4%vs.26.8%, p < 0.001), including bicuspid aortic valve (44.3%vs.16.1%, p < 0.001), partial anomalous pulmonary venous return (12.9%vs.2.7%, p = 0.023), persistent left superior vena cava (12.9%vs.1.8%, p = 0.008), and coarctation of the aorta (20.0%vs.4.5%, p = 0.003). Cardiac surgery (24.3%vs.8.9%, p = 0.017) was more prevalent in the monosomy X group. There was no statistically significant difference for presence of aortic dilation (7.1% vs 1.8%, p = 0.187). Although CHD and need for cardiac surgery are more common in TS with monosomy X as compared to others, all TS subtypes may have similar risk of developing aortic dilation. All TS patients should have similar cardiovascular surveillance testing to monitor for aortic dilation.

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.

Congenital heart defects in monochorionic twin pregnancy complicated by selective fetal growth restriction.

To evaluate the prevalence, subtypes and postnatal outcomes of congenital heart defects (CHD) in a cohort of monochorionic diamniotic (MCDA) twin pregnancies complicated by selective fetal growth restriction (sFGR), and to compare this population with a cohort of uncomplicated MCDA pregnancies evaluated during the same period. This was a retrospective analysis of all consecutive MCDA pregnancies referred between 2009 and 2018, including those complicated by sFGR (Group A) and those without complications (Group B). All neonates delivered in our center were screened for CHD before discharge. Discharge letters for all those delivered elsewhere were retrieved. Pregnancies with complications other than sFGR and those without perinatal follow-up were excluded. Pregnancies in Group A were divided into three types according to the Gratacós system of sFGR classification. A total of 870 MCDA twin pregnancies were included: 296 in Group A and 574 in Group B. In Group A, the prevalence of CHD was 3.7% (22/592 twins), with no significant difference in CHD frequency between the three types of sFGR (Type I, 3.7%; Type II, 3.2%; Type III, 4.2%; P = 0.55). Of four Type-III sFGR pregnancies with CHD, one had pulmonary stenosis (PS) in the larger twin and isolated coarctation of the aorta in the smaller cotwin, and three had PS in the larger twin only. No Type-III sFGR pregnancies in which only the smaller twin was affected by CHD were observed. Of 11 CHD cases in the larger twin, 10 (91%) were right ventricular outflow tract abnormalities (RVOTA), and one (9%) was a ventricular septal defect. In the smaller twins, 11 cases of CHD were observed, covering a broad spectrum of cardiac abnormalities. In Group B, the CHD prevalence was 1.1% (13/1148 twins), which was similar to that in the general population, according to the EUROCAT registry for the same period and geographical area of the study (0.96%; P = 0.579). The CHD prevalence was significantly higher in Group A compared with Group B (3.7% vs 1.1%; P = 0.0002; odds ratio, 3.57 (95% CI, 1.78-7.22)). In all pregnancies with CHD in the study population, the anomaly was discordant. In MCDA twin pregnancy, sFGR was associated with a three-fold higher prevalence of CHD. Women with such pregnancies should be referred to a tertiary care hospital for pre- and postnatal cardiac evaluation, treatment and long-term follow-up. In larger twins, the only major CHD observed was RVOTA, while a broad spectrum of CHD was noted in smaller twins. The higher risk of CHD in MCDA pregnancies appears to be due to the typical complications of the monochorionic pregnancy, rather than to the monochorionic nature of the pregnancy itself. © 2022 International Society of Ultrasound in Obstetrics and Gynecology.

Maternal diabetes as a teratogenic factor for congenital heart defects in infants of diabetic mothers.

Congenital heart defects (CHDs) are shown to have an association with maternal diabetes mellitus. The Bahraini population has a high prevalence of diabetes 16.3% thus putting it at increased risk of developing CHDs in infants of diabetic mothers (IDMs). Describing the prevalence of CHDs in IDM in the Kingdom of Bahrain. A retrospective clinical study. Bahrain Defense Force Hospital, Kingdom of Bahrain. The study took place from January 1998 to January 2020. A history was recorded for all patients who were referred to the only tertiary cardiac center in Bahrain for echocardiography. Data was recorded on an Excel Sheet for analysis. A cardiac anatomy survey was conducted by an experienced pediatric cardiologist for each patient and the defects were categorized into acyanotic and cyanotic lesions. Five thousand five hundred sixty-nine patients were referred for cardiac echocardiography. Three thousand two hundred fifty-six patients were diagnosed with CHDs, 2,987 were non-IDM whereas 269 were IDM. Patients diagnosed with non-structural defects were excluded. Atrial septal defect (ASD) was identified in 744 patients and was more likely to occur in non-IDM (p-value=.005). Hypertrophic obstructive cardiomyopathy (HOCM) was identified in 35 patients and was more likely to occur in IDM (p-value < .001). Transposition of the great arteries (TGAs) was identified in 80 patients and was more likely to occur in IDM (p-value .002). Double inlet left ventricle (DILV), Hypoplastic Left Heart Syndrome (HPLHS), and Other Uni-Ventricular Hearts were all more likely to occur in IDM with p-values < .05. This study showed significant association between fetal exposure to diabetes and the development of ASD, HOCM, TGA, DILV, HPLHS, and Other Uni-Ventricular Hearts.

Maternal age and the prevalence of congenital heart defects in Europe, 1995-2015: A register-based study.

Evidence on the direction and strength of association between maternal age and the prevalence of congenital heart defects (CHD) in different age group categories is conflicting. Some studies have illustrated different trends with an increase in prevalence in younger and older age groups while other studies have reported a linear relationship. Given the increase in maternal age over recent years, it is important to study the CHD prevalence by maternal age. To examine the association between maternal age and the prevalence of CHD in Europe between 1995 and 2015 using population-based data from 24 registries belonging to the European Surveillance of Congenital Anomalies (EUROCAT) network. Associations over time of all nonsyndromic CHD according to maternal age category and for three CHD severity groupings (severity group I: very severe; severity group II: severe; severity group III: less severe) were examined using Bayesian multilevel Poisson regression modeling. Further subgroup analyses were undertaken within four maternal age-bands: ≤24, 25-29, 30-34 and 35-44 years. Descriptive summaries are also presented. There were 51,608 nonsyndromic CHD cases in Europe over the 20-year study period. Total prevalence for all CHD combined was increased for younger mothers (≤24 years) and for mothers 35-44 years of age when compared with mothers aged 25-29 years (reference group) (IRR: 1.05, 95% CI: 1.02, 1.07). The total prevalence was increased for severity group I (very severe) only for younger mothers compared to those aged 25-29 years (IRR: 1.14, 95% CI: 1.04, 1.23). We found an increased prevalence of the following CHD subtypes: double outlet right ventricle (IRR:1.33, 95% CI: 1.09, 1.60), hypoplastic left heart syndrome (IRR: 1.18, 95% CI: 1.05, 1.32), hypoplastic right heart syndrome (IRR: 1.41, 95% CI: 1.05, 1.84), atrioventricular septal defect (IRR: 1.15, 95% CI: 1.01, 1.32), coarctation of aorta (IRR: 1.15, 95% CI: 1.03, 1.28) and atrial septal defect (IRR: 1.08, 95% CI: 1.02, 1.13). For older mothers (35-44 years) compared to the reference category, we observed an increased risk in the prevalence for severity group II (IRR: 1.09, 95% CI: 1.03, 1.14), severity group III (IRR: 1.05, 95% CI: 1.01, 1.08) and an increased prevalence of the CHD subtypes: Pulmonary valve stenosis (IRR: 1.22, 95% CI: 1.09, 1.34), ASD (IRR: 1.07, 95% CI: 1.02, 1.13), CoA (IRR: 1.18, 95% CI: 1.06, 1.32) and Tetralogy of Fallot (IRR: 1.14, 95% CI: 1.01, 1.28). Finally, for all age categories compared to the reference category, different associations of ASD and an increased prevalence of CoA was also observed. Based on data for cases of CHD from 24 European population-based registries, evidence of a positive association between maternal age and the total prevalence of CHD for younger (≤24 years old) and older (35-44 years old) mothers was observed. The results suggest that young maternal age (≤24 years old) is a factor associated with severe CHD phenotypes while a positive association between advanced maternal age (35-44 years old) and mild CHD phenotypes was observed.

Prevalence and Trends of Birth Defects - Five Counties, Shanxi Province, China, 2003-2022.

The Shanxi Province, located in northern China, holds the highest prevalence of birth defects (BDs) across the country. Following the implementation of a nationwide folic acid supplementation program in 2009, a significant reduction of 53.89% in the prevalence of neural tube defects (NTDs) was observed in Shanxi from 2012 to 2017. However, despite this decrease, the prevalence rate for congenital heart defects (CHDs) in 2017 was over four times that of the 2012 rate. Since 2014, CHDs have emerged as the most predominant BD in Shanxi. The present study has identified a marked reduction in the prevalence of both total BDs and NTDs in five counties within Shanxi over the past two decades. As of 2017-2022, NTDs continue to be the most prevalent BDs recorded in this region. Contrarily, there has been a noteworthy increase in the prevalence of CHDs, ranking them among the top five most common BDs in the region between 2017 and 2022, though their rate remains below the national average. Additionally, the proportion of external anomalies remains high. Nevertheless, due to constrained access to primary healthcare services and diagnostic facilities, the early detection rate for internal anomalies, particularly CHDs, may be underestimated in the region. The results of this study underscore the necessity for augmented efforts in promoting folic acid supplementation as a preventive measure for NTDs. Moreover, improvements in the distribution of medical resources within this region are recommended, particularly the introduction and enforcement of local training programs aimed at enhancing CHD screening and diagnostic processes in these respective counties.

Epidemiology of birth defects based on a birth defects surveillance system in southwestern China and the associated risk factors.

Birth defects (BDs) are associated with many potential risk factors, and its causes are complex. This study aimed to explore the epidemiological characteristics of BDs in Guangxi of China and the associated risk factors of BDs. BDs data of perinatal infants (PIs) were obtained from the Guangxi birth defects monitoring network between 2016 and 2020. Univariate Poisson regression was used to calculate the prevalence-rate ratios (PRR) to explore the changing trends of BDs prevalence by year and the correlation between the regarding of characteristics of BDs (including infant gender, maternal age, and quarter) and BDs. Clinical characteristics of PIs with BDs and general characteristics of their mothers were documented, and Spearman correlation analysis was used to explore the potential associated risk factors of BDs. Between 2016 and 2020, 44,146 PIs with BDs were monitored, with an overall BDs prevalence of 121.71 (95% CI: 120.58-122.84) per 10,000 PIs, showing a significant increase trend (PRR = 1.116, 95% CI: 1.108-1.123), especially the prevalence of congenital heart defects (CHDs) that most significantly increased (PRR = 1.300, 95% CI: 1.283-1.318). The 10 most common BDs were CHDs, polydactyly, congenital talipes equinovarus, other malformation of external ear, syndactyly, hypospadias, cleft lip with cleft palate, cleft lip, hemoglobin Bart's hydrops fetalis syndrome (BHFS), and congenital atresia of the rectum and anus. BDs were positively correlated with pregnant women's age (R = 0.732, P < 0.01) and education level (R = 0.586, P < 0.05) and having pre-gestational diabetes mellitus (PGDM)/gestational diabetes mellitus (GDM) (R = 0.711, P < 0.01), while when the pregnant women had a family history of a dead fetus (R = -0.536, P < 0.05) and a birth of a fetus with BDs (R = -0.528, P < 0.05) were negatively correlated with BDs. A significant increase in the prevalence of BDs was detected between 2016 and 2020 in Guangxi, especially the prevalence of CHDs that most significantly increased. Older maternal age, higher maternal education level, and having PGDM before pregnancy or GDM in early pregnancy were the risk factors for BDs.

Prevalence of congenital heart defects in infants of diabetic mothers in Aseer region, Southwestern, Saudi Arabia

Background: Maternal diabetes mellitus is a risk factor for adverse maternal and fetal outcomes, including anatomical malformations such as congenital heart defects (CHD). Objectives: To determine the prevalence of CHD in babies born to mothers with pre-existing or gestational diabetes. Patients and Methods: A retrospective study of all births of type 1, type 2 diabetic mothers, gestational diabetic mothers, and non-diabetic mothers admitted to the newborn nursery and the neonatal intensive care unit between July 2011 and June 2022 was performed. Results: A total of 2079 mothers and their offspring were enrolled in the study. Of 2079 mothers 1397 (67.2%) were non-diabetic and 682 (32.8%) were diabetic. In terms of diabetic status, the incidence of cardiovascular anomalies in infants of diabetic mothers is significantly higher than the infants of non-diabetic mothers (p

A Cross Sectional Study on Prevalence and Pattern of Murmur and CHD in Children of District Shopian

Background: Congenital heart defects (CHD) are among the common congenital birth defects with an estimated incidence of 8–10/1000 live births which can be easily identified on occasions on routine checkup visits on auscultation and confirmed by echocardiography. With the advanced diagnostics and corrective therapies for CHDs, the percentage of individuals surviving to adulthood has increased over past few decades, it is imperative to identify the disease at the earliest. Methods: This was a hospital-based outpatient study conducted in the pediatric OPD of the hospital in children aged 12 years or less with no previous known heart disease. Children were seen for any murmur or features of heart disease. A total of 14000 patients were attended with 100 having murmur and an echocardiogram was advised.Results: Of the 14000 children seen in the OPD, 100 had a murmur on auscultation accounting for about 0.714% patientsi.e 7 per 1000 children. Of the 100 patients with murmur, 60 patients came back with an echocardiogram of which38 had an abnormal echo corresponding to 63.33% cases. Hence the murmur was present in approximately 7 per 1000 children and the incidence of heart lesions among those with murmur was 63.33% with VSD &amp; ASD in combination as the most occurring lesion.Conclusion: The prevalence of murmur in children was approximately 7 per 1000 and the sensitivity of auscultation in finding a heart disease was 63.33%. However, a large study over a greater period of time with a good follow up of the patients is recommended.

A Hospital-Based Study on Congenital Heart Defects - Haidian District, Beijing Municipality, China, 2013-2022.

Congenital heart defects (CHDs) represent the most prevalent birth defects in China, exhibiting significant mortality and morbidity rates. Recent years have witnessed a steady increase in the occurrence of CHDs, highlighting a crucial need for rigorous research focus. The cumulative birth prevalence of CHDs in Haidian District from 2013 to 2022 was 80.77 per 10,000 births, reflective of an upward trend primarily influenced by the diagnosis of minor, non-critical congenital defects (non-CCHDs). This increase can be attributed to advancements in diagnostic methodologies. Despite the progress in detection, the survival rate for CHDs did not correspondingly improve. Policies need to be formulated to promote the graded management of CHDs. There should be timely updates to the diagnostic criteria to align with advancements in diagnostic techniques. Moreover, in instances where therapeutic abortion is not required, the provision of appropriate medical consultation post-diagnosis should be enhanced.