Assessing sociodemographic differences (or lack thereof) in prenatal diagnosis of congenital heart defects: a population-based study.
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ABSTRACT:
SUBMITTER: Khoshnood B
PROVIDER: S-EPMC4809075 | biostudies-other | 2016 Mar
REPOSITORIES: biostudies-other
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Project description:ImportancePrenatal diagnosis of complex congenital heart defects reduces mortality and morbidity in affected infants. However, fetal echocardiography can be limited by poor acoustic windows, and there is a need for improved diagnostic methods.ObjectiveTo assess the clinical utility of fetal cardiovascular magnetic resonance imaging in cases in which fetal echocardiography could not visualize all relevant anatomy.Design, setting, and participantsThis cohort study was conducted between January 20, 2017, and June 29, 2020, at Skåne University Hospital (Lund, Sweden), a tertiary center for pediatric cardiology and thoracic surgery. Participants were fetuses referred for fetal cardiovascular magnetic resonance examination by a pediatric cardiologist after an inconclusive echocardiograph.ExposuresFetal cardiovascular magnetic resonance examination requested by the patient's pediatric cardiologist.Main outcomes and measuresAny change in patient management because of diagnostic information gained from fetal cardiovascular magnetic resonance imaging.ResultsA total of 31 fetuses underwent cardiovascular magnetic resonance examination at a median gestational age of 36 weeks (range, 31-39 weeks). Overall, fetal cardiovascular magnetic resonance imaging had clinical utility, affecting patient management and/or parental counseling in 26 cases (84%). For aortic arch anatomy including signs of coarctation (20 fetuses), fetal cardiovascular magnetic resonance imaging added diagnostic information in 16 cases (80%). For assessment of univentricular vs biventricular outcome in borderline left ventricle, unbalanced atrioventricular septal defect, and pulmonary atresia with intact ventricular septum (15 fetuses), fetal cardiovascular magnetic resonance imaging visualized intracardiac anatomy and ventricular function, allowing assessment of outcome in 13 cases (87%). In 4 fetuses with hypoplastic left heart syndrome, fetal cardiovascular magnetic resonance imaging helped delivery planning in 3 cases (75%). Finally, fetal cardiovascular magnetic resonance imaging provided valuable information for parental counseling in 21 cases (68%).Conclusions and relevanceIn this cohort study, fetal cardiovascular magnetic resonance imaging added clinically useful information to what was available from echocardiography. These findings suggest that fetal CMR has the potential to affect clinical decision-making in challenging cases of congenital heart defects with inconclusive data from echocardiography. Fetal cardiovascular magnetic resonance imaging showed an association with clinical decision-making, including mode of delivery and early postnatal care, as well as with parental counseling.
| S-EPMC8008290 | biostudies-literature
Project description:OBJECTIVES:To assess international trends and patterns of prenatal diagnosis of critical congenital heart defects (CCHDs) and their relation to total and live birth CCHD prevalence and mortality. SETTING:Fifteen birth defect surveillance programmes that participate in the International Clearinghouse for Birth Defects Surveillance and Research from 12 countries in Europe, North and South America and Asia. PARTICIPANTS:Live births, stillbirths and elective terminations of pregnancy for fetal anomaly diagnosed with 1 of 12 selected CCHD, ascertained by the 15 programmes for delivery years 2000 to 2014. RESULTS:18 243 CCHD cases were reported among 8 847 081 births. The median total prevalence was 19.1 per 10 000 births but varied threefold between programmes from 10.1 to 31.0 per 10 000. CCHD were prenatally detected for at least 50% of the cases in one-third of the programmes. However, prenatal detection varied from 13% in Slovak Republic to 87% in some areas in France. Prenatal detection was consistently high for hypoplastic left heart syndrome (64% overall) and was lowest for total anomalous pulmonary venous return (28% overall). Surveillance programmes in countries that do not legally permit terminations of pregnancy tended to have higher live birth prevalence of CCHD. Most programmes showed an increasing trend in prenatally diagnosed CCHD cases. DISCUSSION AND CONCLUSIONS:Prenatal detection already accounts for 50% or more of CCHD detected in many programmes and is increasing. Local policies and access likely account for the wide variability of reported occurrence and prenatal diagnosis. Detection rates are high especially for CCHD that are more easily diagnosed on a standard obstetric four-chamber ultrasound or for fetuses that have extracardiac anomalies. These ongoing trends in prenatal diagnosis, potentially in combination with newborn pulse oximetry, are likely to modify the epidemiology and clinical outcomes of CCHD in the near future.
| S-EPMC6609145 | biostudies-literature
Project description:BackgroundThe 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.MethodsThis 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.ResultsOf 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]).ConclusionsYounger 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.
| S-EPMC10524984 | biostudies-literature
Project description:BackgroundThere are still inconsistent conclusions about the association of prenatal alcohol drinking with congenital heart defects (CHDs). We conducted this meta-analysis to investigate the association between prenatal alcohol exposure and the risk of overall CHDs and the CHDs subtypes.MethodsCase-control and cohort studies published before March 2015 were searched through PubMed and Embase. Two authors independently extracted data and scored the study quality according to the Newcastle-0ttawa Scale. The pooled ORs and 95%CI were estimated using the random-effects model and heterogeneity was assessed by the Q test and I2 statistic.ResultsA total of 20 studies were finally included. The results provided no evidence of the association between prenatal alcohol exposure and the risk of overall CHDs (OR = 1.06, 95%CI = 0.93-1.22), ventricular septal defects (VSDs) (OR = 1.04, 95%CI = 0.86-1.25), or atrial septal defects (ASDs) (OR = 1.40, 95%CI = 0.88-2.23). However, prenatal alcohol drinking was marginally significantly associated with conotruncal defects (CTDs) (OR = 1.24, 95%CI = 0.97-1.59) and statistically significantly associated with d-Transposition of the Great Arteries (dTGA) (OR = 1.64, 95%CI = 1.17-2.30). Moreover, both prenatal heavy drinking and binge drinking have a strong association with overall CHDs (heavy drinking: OR = 3.76, 95%CI = 1.00-14.10; binge drinking: OR = 2.49, 95%CI = 1.04-5.97), and prenatal moderate drinking has a modest association with CTDs (OR = 1.35, 95%CI = 1.05-1.75) and dTGA (OR = 1.86, 95%CI = 1.09-3.20).ConclusionsIn conclusion, the results suggested that prenatal alcohol exposure was not associated with overall CHDs or some subtypes, whereas marginally significant association was found for CTDs and statistically significant association was found for dTGA. Further prospective studies with large population and better designs are needed to explore the association of prenatal alcohol exposure with CHDs including the subtypes in specific groups.
| S-EPMC4482023 | biostudies-literature
Project description:This study aimed to assess the efficiency of CNV-seq and WES in detecting genetic cause of congenital heart disease (CHDs) in prenatal diagnoses and to compare CNV detection rate between isolated and non-isolated CHD cases. We conducted a retrospective study of 118 Chinese fetuses diagnosed with CHD by prenatal ultrasound. Participants underwent CNV-seq and, if necessary, WES to detect chromosomal and single nucleotide variations. The overall detection rate for pathogenic or likely pathogenic chromosomal abnormalities was 16.9%, including 7.6% aneuploidies and 9.3% pathogenic/likely pathogenic copy number variations (CNVs), predominantly 22q11.2 deletion syndrome (54.4%). The sensitivity and specificity of CNV-Seq for detecting P/Lp CNVs were 95% and 100%, respectively. CNV-Seq offered a 6.7% improvement in detecting chromosomal abnormalities over karyotyping. WES further identified significant single nucleotide and small indel variations contributing to CHD in genes such as TMEM67, PLD1, ANKRD11, and PNKP, enhancing diagnostic yield by 14.8% in cases negative for CNVs. Non-isolated CHD cases exhibited higher rates of detectable chromosomal abnormalities compared to isolated cases (32.4% vs. 9.9%, p = 0.005), underlining the genetic complexity of these conditions. The combined use of CNV-seq and WES provides a comprehensive approach to prenatal genetic testing for CHDs, unveiling significant genetic cause that could impact clinical management and parental decision-making. This study supports the integration of these advanced genomic technologies in routine prenatal diagnostics to increase detection diagnostic yields of causal genetic variants associated with CHDs.
| S-EPMC11349688 | biostudies-literature
Project description:ObjectiveThe study was designed to assess the impact of socioeconomic barriers on the rate of prenatal diagnosis of critical congenital heart disease (CCHD).MethodsThis was a retrospective review of the Medicaid analytic extract (MAX) dataset, a national Medicaid administrative claims database with linked maternal-infant claims, from 2007 to 2012. Infants with CCHD were identified by searching for International Classification of Diseases (ICD) 9 codes and Procedural Coding System (PCS) codes for CCHD within the first 6 months after the delivery date. Multivariate logistic regression was used to evaluate the effect of maternal and socioeconomic factors on the prenatal diagnosis rate.ResultsThere were 4702 mother-infant dyads included in the analysis. The prenatal diagnosis rate of CCHD was 27.9%. Factors independently associated with odds of prenatal diagnosis of CCHD were presence of maternal diabetes (OR, 2.055; P < .001), ZIP code level median household income (OR, 1.005; P = .015), sonographer labor quotient (OR, 1.804; P = .047), the year of the delivery (OR, 1.155; P < .001), and needing a view other than a 4 chamber or outflow tract view to obtain the diagnosis (OR, 0.383; P < .001).ConclusionMaternal health, diabetes, socioeconomic factors, and access to sonographers impacts prenatal diagnosis of CCHD.
| S-EPMC7933065 | biostudies-literature
Project description:Congenital heart defects (CHDs) are the most common group of major birth defects. Presently there are no clinically used biomarkers for prenatally detecting CHDs. Here, we performed a comprehensive maternal serum proteomics assessment, combined with immunoassays, for the discovery of non-invasive biomarkers for prenatal diagnosis of CHDs. A total of 370 women were included in this study. An isobaric tagging for relative and absolute quantification (iTRAQ) proteomic approach was used first to compare protein profiles in pooled serum collected from women who had CHD-possessing or normal fetuses, and 47 proteins displayed significant differential expressions. Targeted verifications were performed on 11 proteins using multiple reaction monitoring mass spectrometry (MRM-MS), and the resultant candidate biomarkers were then further validated using ELISA analysis. Finally, we identified a biomarker panel composed of 4 cytoskeletal proteins capable of differentiating CHD-pregnancies from normal ones [with an area under the receiver operating characteristic curve (AUC) of 0.938, P < 0.0001]. The discovery of cytoskeletal protein changes in maternal serum not only could help us in prenatal diagnosis of CHDs, but also may shed new light on CHD embryogenesis studies.
| S-EPMC4707500 | biostudies-literature
Project description:ObjectiveWe aimed to examine trends in timing of diagnosis of critical congenital heart defects (CCHDs) and factors associated with delayed diagnosis (diagnosis after discharge home following delivery).MethodsWe examined a population-based retrospective cohort of CCHD cases among live births identified through the Massachusetts Birth Defects Monitoring Program. Congenital heart defects were considered critical if the infant received corrective surgery, interventional catheterization, palliative care, or died as a result of the defect within 12 months of birth. Timing of initial diagnosis was classified as prenatal, postnatal before discharge home, or delayed. Demographic, perinatal, and mortality information was obtained from the Registry of Vital Records and Statistics. Prevalence ratios (PRs) were used to examine associations with delayed diagnosis.ResultsAmong 460 467 live births to Massachusetts residents between 2004 and 2009, we identified 916 CCHD cases, of which 126 (13.8%) had delayed diagnosis. Rates of prenatal CCHD diagnosis increased from 44.9% in 2004 to 63.8% in 2009, whereas rates of delayed diagnosis decreased from 17.1% to 10.6% over the same time period. Among cases with delayed diagnosis, the most common defects were coarctation, pulmonary valve stenosis, and tetralogy of Fallot. Delayed diagnosis was associated with delivery outside a tertiary hospital (adjusted PR: 3.6 [95% confidence interval: 2.5-5.2]) and isolated CCHD (adjusted PR: 1.7 [95% confidence interval: 1.1-2.7]).ConclusionsDespite increasing prenatal diagnosis of CCHDs, delayed diagnosis still occurs in over 10% of cases. Understanding factors associated with delayed diagnosis could help to improve prenatal and postnatal screening efforts, including pulse oximetry testing.
| S-EPMC9923616 | biostudies-literature
Project description:Fitness level, fatigue and adaptation are important factors for determining the optimal training schedule and predicting future performance. We think that adding analysis of the mutual relationships between cardiac and respiratory activity enables better athlete profiling and feedback for improving training. Therefore, the main objectives were (1) to apply several methods for temporal causality analysis to cardiorespiratory data; (2) to establish causal links between the signals; and (3) to determine how parameterized connections differed across various subgroups. One hundred elite athletes (31 female) and a control group of 20 healthy students (6 female) took part in the study. All were asked to follow a protocol comprising two 5-min sessions of free breathing - once supine, once standing. The data were collected using Pneumonitor 2. Respiratory-related curves were obtained through impedance pneumography, along with a single-lead ECG. Several signals (e.g., tidal volume, instantaneous respiratory rate, and instantaneous heart rate) were derived and stored as: (1) raw data down-sampled to 25Hz; (2) further down-sampled to 2.5Hz; and (3) beat-by-beat sequences. Granger causality frameworks (pairwise-conditional, spectral or extended), along with Time Series Models with Independent Noise (TiMINo), were studied. The connections enabling the best distinctions were found using recursive feature elimination with a random forest kernel. Temporal causal links are the most evident between tidal volume and instantaneous heart rate signals. Predictions of the "effect" variable were improved by adding preceding "cause" samples, by medians of 20.3% for supine and 14.2% for standing body positions. Parameterized causal link structures and directions distinguish athletes from non-athletes with 83.3% accuracy on average. They may also be used to supplement standard analysis and enable classification into groups exhibiting different static and dynamic components during performance. Physiological markers of training may be extended to include cardiorespiratory data, and causality analysis may improve the resolution of training profiling and the precision of outcome prediction.
| S-EPMC6370652 | biostudies-literature
Project description:BackgroundWhen a heart defect is prenatally diagnosed in the fetus, expectant parents experience a great need for information about various topics. After the diagnosis, the Web is used for supplemental information, and the scarcity of research calls attention to the need to explore patient information websites from the perspectives of the intended consumers.ObjectiveThe overarching aim of this study was to explore the quality of Swedish patient information websites about congenital heart defects, from the perspectives of individuals with experience of a prenatal diagnosis of congenital heart defect in the fetus.MethodsThis was a mixed-methods study of websites identified through systematic searches in the two most used Web-based search engines. Of the total 80 screened hits, 10 hits led to patient information websites about congenital heart defects. A quality assessment tool inspired by a previous study was used to evaluate each website's appearance, details, relevance, suitability, information about treatment choices, and overall quality. Answers were given on a 5-point Likert scale, ranging from 1, representing the lowest score, to 5, representing the highest score. Each website was assessed individually by persons with experience of continued (n=4) and terminated (n=5) pregnancy following a prenatal diagnosis. Assessments were analyzed with Kendall's coefficient of concordance W, Mann-Whitney U test, Friedman's test, and a Wilcoxon-Nemenyi-McDonald-Thompson test. In addition, each assessor submitted written responses to open-ended questions in the quality assessment tool, and two joint focus group discussions were conducted with each group of assessors. The qualitative data were analyzed with inductive manifest content analysis.ResultsAssessments represented a low score (median=2.0) for treatment choices and moderate scores (median=3.0) for appearance, details, relevance, suitability, and overall quality. No website had a median of the highest achievable score for any of the questions in the quality assessment tool. Medians of the lowest achievable score were found in questions about treatment choices (n=4 websites), details (n=2 websites), suitability (n=1 website), and overall quality (n=1 website). Websites had significantly different scores for appearance (P=.01), details (P<.001), relevance (P<.001), suitability (P<.001), treatment choices (P=.04), and overall quality (P<.001). The content analysis of the qualitative data generated six categories: (1) advertisements, (2) comprehensiveness, (3) design, (4) illustrations and pictures, (5) language, and (6) trustworthiness. Various issues with the included websites were highlighted, including the use of inappropriate advertisements, biased information, poor illustrations, complex language, and poor trustworthiness.ConclusionsFrom the perspectives of the intended consumers, patient information websites about congenital heart defects are, to a large extent, inadequate tools for supplemental information following a prenatal diagnosis. Health professionals should initiate discussions with patients about their intentions to use the Web, inform them about the varied quality in the Web-based landscape, and offer recommendations for appropriate Web-based sources.
| S-EPMC5615220 | biostudies-literature