Rate Of Congenital Heart Defects Research Articles

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<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>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.

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.

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

Pediatric Liver Transplant Survival in Alagille Syndrome Is Comparable to Biliary Atresia-A Linked Database Analysis.

This study aims to report liver transplantation (LT) outcomes and cardiac disease manifestations in children with Alagille Syndrome (ALGS) in a contemporary cohort. This project used a novel linkage between the Scientific Registry of Transplant Recipients and Pediatric Health Information System databases. All children ≤21 years undergoing a first LT were identified (2002-2018). The presence of ALGS was identified using Scientific Registry of Transplant Recipients diagnosis coding. Subjects with ALGS were age-matched 1:2 to LT recipients with biliary atresia (BA). The Kaplan-Meier method and log-rank test were used to compare patient and graft survival between groups. A total of 156 LT recipients with ALGS were identified and matched to a control group of 312 LT recipients with BA. Children with ALGS were more likely to have an associated diagnosis of congenital heart disease (80.7% vs 16.4%; P = 0.001) compared with children with BA with 40 (25.6%) children with AGS requiring cardiac intervention (catheter or surgical) either before or after LT. Those patients with ALGS had a higher creatinine, laboratory MELD, and PELD scores before LT. No difference was observed regarding patient or graft survival between children with ALGS and children with BA ( P = 0.08 and P = 0.27, respectively). Despite increased rate of congenital heart defects and cardiac interventions, higher creatinine, and higher laboratory MELD/PELD scores at time of transplant, this study demonstrates that there is no difference in either patient or graft survival between patients with ALGS and BA.

Hypersensitivity of Zebrafish htr2b Mutant Embryos to Sertraline Indicates a Role for Serotonin Signaling in Cardiac Development.

Selective serotonin reuptake inhibitors (SSRIs) are antidepressants prescribed in 10% of pregnancies in the United States. Maternal use of SSRIs has been linked to an elevated rate of congenital heart defects, but the exact mechanism of pathogenesis is unknown. Previously, we have shown a decrease in cardiomyocyte proliferation, left ventricle size, and reduced cardiac expression of the serotonin receptor 5-HT 2B in offspring of mice exposed to the SSRI sertraline during pregnancy, relative to offspring of untreated mice. These results suggest that disruption of serotonin signaling leads to heart defects. Supporting this conclusion, we show here that zebrafish embryos exposed to sertraline develop with a smaller ventricle, reduced cardiomyocyte number, and lower cardiac expression of htr2b relative to untreated embryos. Moreover, zebrafish embryos homozygous for a nonsense mutation of htr2b ( htr2bsa16649 ) were sensitized to sertraline treatment relative to wild-type embryos. Specifically, the ventricle area was reduced in the homozygous htr2b mutants treated with sertraline compared with wild-type embryos treated with sertraline and homozygous htr2b mutants treated with vehicle control. Whereas long-term effects on left ventricle shortening fraction and stroke volume were observed by echocardiography in adult mice exposed to sertraline in utero, echocardiograms of adult zebrafish exposed to sertraline as embryos were normal. These results implicate the 5-HT 2B receptor functions in heart development and suggest zebrafish are a relevant animal model that can be used to investigate the connection between maternal SSRI use and elevated risk of congenital heart defects.

Clinical outcomes of hypertensive disorders in pregnancy in the offspring during perinatal period, childhood, and adolescence.

Hypertensive disorders during pregnancy (HDP) could have significant clinical impact not only on the mother's, but also on the offspring's health. The clinical impact of HDP may be evident early in the perinatal period or during childhood and adolescence. The cardiovascular system seems to be primarily affected with higher rates of congenital heart defects reported from cohort studies in the offspring of mothers with HDP. HDP are associated with alterations in cardiac and vascular structure and higher BP during childhood. HDP may also affect brain development and could result in increased prevalence of adverse cognitive outcomes and neuropsychiatric disorders in children and adolescents. The kidney, immune, endocrine, and gastrointestinal system abnormalities could also have their origin in exposure to HDP. The aim of this narrative review is to examine the clinical impact of HDP on the offspring with a focus on the perinatal period, childhood, and adolescence.

Incidence, Distribution, Disease Spectrum, and Genetic Deficits of Congenital Heart Defects in China: Implementation of Prenatal Ultrasound Screening Identified 18,171 Affected Fetuses From 2,452,249 Pregnancies

Background: Congenital heart defects (CHDs) are the most common cause of birth defects. Assessment of the incidence, distribution, disease spectrum, and genetic deficits of fetal CHDs in China is urgently needed. Methods: A national echocardiography screening program for fetal CHDs was implemented in 92 prenatal screening–diagnostic centers in China. Findings: A total of 18,171 fetal CHD cases were identified from 2,452,249 pregnancies, resulting in 7·4/1,000 as the national incidence rate of fetal CHD. The incidences of fetal CHD in the six geographical regions, the southern, central, eastern, southwestern, northern, and northwestern, were 8·174 (CI: 7·802–8·554), 7·839 (CI: 7·680–8·000), 7·647 (CI: 7·383–7·915), 7·562 (CI: 7·225–7·907), 5·618 (CI: 5·337–5·906), and 4·716 (CI: 4·341–5·108), respectively, per 1,000 pregnancies. A total of 76·24% cases of fetal CHD were found to be an isolated intracardiac single defect. Among all extracardiac malformations, the CNS was the most common tissue with extracardiac anomalies associated with CHD, accounting for 22·89% of fetal CHD cases. Chromosomal karyotyping identified trisomy 18 as the most common chromosomal abnormality in fetal CHD. Molecular genetic study of copy number variations characterized microdeletion and/or microrepetition/duplication and uniparental disomy. CHD-associated syndromes could be identified with a comprehensive approach integrating prenatal ultrasound, MRI, pathological autopsy, and cytogenetics and molecular genetics. Interpretation: Implementation of prenatal echocardiography is a practically feasible platform to screen fetal CHD, which may reduce the financial and emotional burden of CHD. Funding: This study was supported in part by the Key Project of Science and Technology Planning Project of Hubei Province (2010CDA038), the Hubei Province Natural Science Foundation (2012FFB01203), the Key Project of Hubei Province Natural Science Foundation (2011CDA012 and 2014CFA062), and the New York State Research Foundation for Mental Hygiene (914-3280, 914-3257). Declaration of Interest: All authors have declared that there are no financial conflicts or conflicts of interest with other individuals or organizations. Ethical Approval: The procedures and protocols implemented were reviewed and approved by the Ethics Committees of Maternal and Child Health Hospital of Hubei Province.

A "holistic" sonographic view on congenital heart disease: How automatic reconstruction using fetal intelligent navigation echocardiography eases unveiling of abnormal cardiac anatomy part II-Left heart anomalies.

Volume ultrasound has been shown to provide valid complementary information on fetal anatomy. Four-dimensional assessment (4D) of the fetal cardiovascular system using spatial-temporal image correlation (STIC) allows for detailed examination of a highly complex organ from the early second trimester onward. There is compelling evidence that this technique harbors quite a number of diagnostic opportunities, but manual navigation through STIC volume datasets is highly operator dependent. In fact, STIC is not incorporated yet into daily practice. Application of the novel fetal intelligent navigation echocardiography (FINE) considerably simplifies fetal cardiac volumetric examinations. This automatic technique applied on cardiac volume datasets reportedly has both high sensitivity and specificity for the detection of congenital heart defects (CHDs). Part I reviewed current data regarding detection rates of CHDs and illustrated the additional value of an automatic approach in delineating cardiac anatomy exemplified by congenital lesions of the right heart. In part II of this pictorial essay, we focused on left heart anomalies and aimed to tabulate recent findings on the quantification of normal and abnormal cardiac anatomy.

Congenital Heart Defects in Patients with Classic Bladder Exstrophy: A Hitherto Neglected Association?

Classic bladder exstrophy (BE) is regarded as an isolated malformation without any further anomalies, but some studies have indicated a higher incidence of cardiac anomalies. This cross-sectional study is planned to evaluate the prevalence of congenital heart defects (CHDs) and the clinical relevance for patients with BE admitted for primary closure. Patients were prospectively recruited between March 2012 and January 2019. Patients' profiles including demographic data, results of transthoracic echocardiography (TTE), as well as essential peri- and postoperative data were assessed. Thirty-nine (25 boys and 14 girls) patients with BE (median age 61 days) underwent delayed primary bladder closure. Thirty-seven (24 boys and 13 girls) patients had received TTE 1 day before surgery. CHD was detected in 7 (18.9%) out of the 39 patients, but no clinical differences between patients with and without CHD were observed peri- or postoperatively. This prospective systematic evaluation shows an even higher rate of CHD in patients with BE than assumed previously. Although peri- and postoperative outcome did not differ between patients with and without CHD, we consider TTE an important additional method for ensuring a safe peri- and postoperative courses and a short- and long-term care for patients with CHD.

Capture rate of congenital heart defects in the Pediatric Health Information System database.

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

RECONSIDERING AMERICAN HEART ASSOCIATION RECOMMENDATIONS TO PERFORM FETAL ECHOCARDIOGRAM FOR ALL IN-VITRO FERTILIZATION PREGNANCIES: IS THERE A LOW-RISK GROUP?

The AHA recommends a fetal echocardiogram in all in-vitro fertilization (IVF) conceived pregnancies citing increased rates of congenital heart defects (CHD) in this group. Retrospective review of all fetal echos January 1, 2004 to December 31, 2018 at a single center were reviewed and categorized

A preliminary examination of brain morphometry in youth with Down syndrome with and without parent-reported sleep difficulties

BackgroundDown syndrome is associated with poor sleep but little is known about its neural correlates. AimsThe current research compared brain morphometry in youth with Down syndrome with parent-reported sleep problems (DS-S) to peers with Down syndrome (DS) and typical development (TD) without parent-reported sleep problems matched on age (M = 15.15) and sex ratio (62 % female). Methods and proceduresMagnetic resonance imaging was completed on a 3 T scanner. Participants were stratified into groups based on parent-report: DS-S (n = 17), DS (n = 9), TD (n = 22). Brain morphometry, processed with the FreeSurfer Image Analysis Suite, was compared across groups. In addition, the co-occurrence of medical conditions in the DS groups was examined. Outcomes and resultsYouth with DS-S had reduced total, frontal, parietal, and temporal brain volumes relative to DS and TD peers. They also had higher rates of congenital heart defects than the DS-only group; however, this comorbidity did not appear to account for morphometry differences. Conclusions and implicationsParent-reported sleep problems in DS appear to relate to global and localized volume reductions. These preliminary results have implications for understanding the neural correlates of poor sleep in DS; they also highlight the importance of examining relations between sleep and other medical comorbidities.

Epidemiology of birth defects based on a birth defect surveillance system in Southern Jiangsu, China, 2014–2018

Introduction Changzhou has been confronted with great challenges in birth defects (BDs) prevention, as the prevalence rates of BDs in Changzhou increased rapidly. The aims of this study were to describe the epidemiology of BDs in perinatal infants (PIs, including dead fetus, stillbirth, or live birth between 28 weeks of gestation and 7 days after birth) in Changzhou during the period from 2014 to 2018. Methods The BD surveillance data of PIs were collected from 56 hospitals of Changzhou. The prevalence rate of BDs with 95% confidence interval (CI) were calculated by Poisson distribution. Univariate and multivariate Poisson regression was performed to identify the changing trends of prevalence rates of BDs by year and the association of regarding BD characteristics including year, infant gender, maternal age, and season with BDs successively. Results From 2014 to 2018, there were a total of 238,712 PIs of which 1707 had BDs, with the average prevalence of 71.509 per 10,000 PIs, showing a remarkable uptrend (aPRR = 1.133, 95%CI: 1.094–1.173). The ten leading BDs were polydactyly, congenital heart defects (CHD), syndactyly, microtia, cleft lip and palate (CLP), hypospadias, cleft palate, other malformation of external ear (OMEE), congenital atresia of rectum and anus, and congenital talipes equinovarus (CTE). During the study period, the prevalence rates of polydactyly, CHD and syndactyly increased significantly (PRR = 1.195, 95%CI: 1.109–1.288, PRR = 1.194, 95%CI: 1.105–1.291, and PRR = 1.143, 95%CI: 1.007–1.297, respectively); the prevalence rates of congenital esophageal atresia decreased significantly (PRR = 0.571, 95%CI: 0.395–0.826). The risk of BDs was higher in male PIs versus female PIs (aPRR = 1.235, 95%CI: 1.123–1.358). Conclusions A significant increase in the prevalence of BDs was detected from 2014 to 2018 in Changzhou. CHD, polydactyly, and syndactyly increased much and congenital esophageal atresia declined much. Male PIs was risk factor for occurrence of BDs. Collecting information on factors associated with BDs, setting the report time of BDs system at smaller gestational age so as to get an exact prevalence and make better prevention strategy, strengthening the publicity and education, improving the ability of monitoring, and wider use of new diagnosis technology are important to reduce the prevalence of BDs in PIs.

Caracterización de la exposición prenatal de un grupo de niños de 0 a 5 años con cardiopatía congénita atendidos en Cali, Colombia. La importancia del ácido fólico

Introducción. Con una prevalencia estimada de 4 a 9 casos por cada 1 000 nacimientos, las cardiopatías congénitas (CC) tienen gran impacto en la morbimortalidad pediátrica. La variabilidad de prevalencia se ha atribuido a diferencias regionales en cuanto a factores genéticos, ambientales, entre otros.Objetivo. Obtener datos sobre variables de exposición prenatales de pacientes con CC atendidos en Cali, Colombia.Materiales y métodos. Se aplicó una encuesta a las madres de 30 pacientes de 0 a 5 años con CC atendidos en 2 clínicas de alta complejidad (tercer y cuarto nivel) de Cali. La encuesta estaba orientada a múltiples variables de exposición y la información recolectada fue digitalizada en una base de datos en el programa Microsoft Excel para hacer un análisis estadístico descriptivo.Resultados. Se evidenciaron varias exposiciones potencialmente asociadas a CC, tales como índice de masa corporal alterado, administración inadecuada de suplementos de ácido fólico y exposición a vitamina A, rayos X, alcohol y cigarrillo.Conclusión. El consumo insuficiente o inoportuno de ácido fólico podría facilitar la generación de efectos teratogénicos de sustancias oxidantes. Por lo tanto, se debe educar a las mujeres de Cali sobre la importancia de una ingesta adecuada de ácido fólico y sobre los riesgos de la exposición a agentes teratogénicos durante el embarazo para reducir las tasas de incidencia de CC en esta ciudad.

Analysis of the Seasonal Trend of Congenital Heart Defects

To determine the seasonal trend of congenital heart defects (CHDs) in China using hospital-based clinical data. We included 40 501 patients with CHD hospitalized at the Shanghai Children Medical Center between 2006 and 2017. The birth rate of CHD in each month was adjusted by sex, year of birth, and monthly birth rate of the general population. Negative binomial regression models were used to assess the seasonal trend of CHD. The included patients consisted of 22 600 boys (55.8%), resulting in a male-to-female ratio of 1.26:1. Among subtypes of CHDs, ventricular septal defects and atrial septal defects were the most common, accounting for 39.7% and 12.6%, respectively. A statistically significant seasonal trend in the monthly birth rate of patients with CHDs was found; the highest relative rate of CHD was found in October and the lowest in April. After adjusting for the potential confounders, the highest relative rate of CHD was found in October and the lowest in November. There seems to be a significant monthly birth rate variation of CHDs in China. The highest relative rate of CHDs occurred in October, suggesting possible maternal exposure to environmental hazards from January to March. These hazards may include air pollution, virus infection, and unhealthy lifestyle behaviors during the Spring Festival.

Fetal MRI and prenatal diagnosis of congenital heart defects

Fetal MRI and prenatal diagnosis of congenital heart defects

Parents’ request for termination of pregnancy due to a congenital heart defect of the fetus in a country with liberal interruption laws

Objectives: This study aimed to evaluate the prenatal rate of congenital heart defects (CHDs) and the frequency of termination of pregnancy (TOP) due to a CHD, depending on the severity of the defect and concomitant diseases of the fetus.Methods: The data were assessed retrospectively between 2002 and 2017. Ultrasound examination was performed mostly in the second trimester. For analysis, the CHDs were divided into three groups of severity and three groups of fetus impairment.Results: A total of 40,885 fetuses underwent echocardiography. The CHDs were detected in 1.0% (398/40,885) and were an isolated anomaly in 69% (275/398). Forty-nine percent (197/398) of families decided to TOP. In all groups of severity, the rate of TOP rose linearly when comparing isolated defects and cases with associated morphological and genetic impairments. The TOP was significantly dependent on the associated anomalies in patients with the most correctable defects (p < .001) and the severity of CHDs in isolated cases without any other impairment (p < .001).Conclusion: The parents’ decision to terminate increased with the severity of the defect and the associated anomalies of the fetus. The parents were mostly influenced by the associated anomalies when the CHD was correctable, and genetic factors played a more important role than morphological ones.

Epidemiology and major subtypes of congenital heart defects in Hunan Province, China.

Congenital heart defects (CHDs) are the most common birth defects (BDs) and account for nearly one-third of all BDs. The aim of this article was to investigate the epidemiology and major subtypes of CHDs in Hunan Province, China in the last 5 years.CHD surveillance data from 2012 to 2016 were collected from 52 registered hospitals in Hunan. The prevalence rates of CHDs, incidence rates of CHDs combined with other BDs, and rates of termination of pregnancy (TOP) for CHDs among different regions, infant sexes, and maternal ages were calculated for both early fetuses (<28 weeks of gestation) and perinatal infants (PIs) (between 28 weeks of gestation and 7 days after birth). Both the constituent ratio and prevalence rates were computed among subtypes.CHDs were found in 6289 out of 673,060 births. The overall prevalence was 93.44 per 10,000 PIs, with 19.27 and 74.17 per 10,000 in early fetuses and PIs, respectively. The risks of CHDs were higher in infants from urban areas than those from rural areas during the whole gestation and were higher in male infants than in female infants during the perinatal period. The total prevalence of CHDs increased significantly with maternal age (χ2 trend = 141.84, P < .05). Among fetuses in early gestation, there were 288 cases (22.21%) of CHDs combined with other BDs and 1292 cases (99.61%) of TOP for CHD. The 3 major subtypes of CHDs were ventricular septal defect (VSD) (22.06%), Tetralogy of Fallot (TOF) (9.43%), and atrioventricular septal defect (AVSD) (6.69%). Among PIs, there were 1541 cases (30.87%) of CHD diagnosed before delivery and 1184 cases (76.83%) were TOP. The 3 major subtypes were atrial septal defect (ASD) (42.81%), patent ductus arteriosus (PDA) (16.07%), and VSDs (15.21%).The total prevalence of CHD in Hunan Province and the rate of TOP for CHD was high, especially for early-gestation fetuses. Pregnancies in urban women, male PIs, and maternal age were the risk factors for CHDs. Among early-gestation fetuses, the most common types were VSD, TOF, and ASD, and among PIs, the most common types were ASD, PDA, and VSD.

Congenital heart defects according to the types of the risk factors – a single center experience

Objective: The main aim of this study was to compare the prevalence of congenital heart defects (CHDs) between pregnant women with and those without the risk factors. The secondary aim was to determine the influence of the specific risk factors, divided into subgroups, on the development of the CHD.Methods: The presented results were obtained over the course of a 15-year study between years 2002 and 2016. Fetal echocardiography was performed as a planned screening examination during the second trimester of gravidity. A total of 35,831 singleton pregnancies were examined at our center. Risk factors for the development of CHDs were analyzed and divide into the following groups: (i) maternal age ≥35 years; (ii) mother-related risk factors; (iii) pregnancy- and fetus-related risk factors; (iv) pregnancy after in vitro fertilization (IVF); (v) history of CHDs in the first-degree family member; (vi) history of CHDs in the second-degree family member; and (vii) positive genetic family history.Results: The risk factors were identified in 25% (8990/35,831) of pregnancies. In total, CHDs were detected in 1.1% (394/35,831) of fetuses. The prevalence rate of CHDs was higher in the pregnancies with than in those without the risk factors (2.5% [221/8990] versus 0.6% [173/26,841]; p < .0001). The presence of pregnancy- and fetus-related risk factors (odds ratio [OR], 6.5; 95% confidence interval [CI], 4.3–9.7) and pregnancy after IVF (OR, 2.8; 95% CI, 1.5–5.2) were found to be independent risk factors of CHDs.Conclusions: The presence of specific risk factors is related to the increasing prevalence of CHDs. Pregnancy- and fetus-related risk factors and in vitro fertilization were found to be the independent risk factors of CHD.

Severity of congenital heart defects associated with assisted reproductive technologies: Case series and review of the literature

Assisted reproductive technology (ART) has been associated with a higher incidence of congenital anomalies, including a specific increase in the rate of congenital heart defects (CHD). In this study, the rate of CHD in pregnancies resulting from ART at a single high-risk pregnancy referral center are compared to the published literature. Pregnancies were screened by fetal echocardiography for the indication of ART over a 2-year period. CHD were classified as either mild or severe based on the need for postnatal surgical intervention. Results were compared to findings from a literature review of studies examining CHD in pregnancies resulting from ART since 1980. Over the course of two years, 363 fetuses in 264 pregnancies from our cohort were screened for CHD. The incidence of mild CHD in fetuses from ART pregnancies was 2.75% (10 out of 363 fetuses). None of the affected fetuses had severe CHD. Review of the literature yielded 20 studies since 1980 that examined CHD in pregnancies resulting from ART. Composite data from the studies was described based on characterization of severity of the CHD anomalies. The incidence of mild CHD in ART pregnancies was 2.2%, compared to 1% in non-ART pregnancies (out of 332,157 infants). The incidence of severe CHD in ART pregnancies and naturally conceived pregnancies was 1.4% and 1.2%, respectively (out of 661,455 infants). The incidence of unspecified CHD in ART pregnancies was 1.8%, compared to 1% in naturally conceived pregnancies (out of 1,593,277 infants). The greatest increase in risk appears to be for mild CHD (nonsurgical), which may inform counseling of patients prior to use of assisted reproductive technologies.