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AIMS: The aim of this study was to evaluate the relationship between preoperative left atrial function and recurrence of atrial fibrillation (AF) after mitral valve surgery and Cox Maze procedure in patients with moderate-to-severe rheumatic mitral stenosis (MS) combined with AF, in order to facilitate clinical risk stratification and to guide treatment strategies. METHODS AND RESULTS: Patients with moderate-to-severe rheumatic MS attending Beijing Anzhen Hospital of Capital Medical University from April 2022 to September 2023 were prospectively collected, and all of them underwent transthoracic two-dimensional speckle-tracking echocardiography to assess left atrial structure and function before undergoing mitral valve surgery and Cox Maze procedure and postoperative follow-up. 121 patients were enrolled, of whom 77.69â¯% (94/121) were female, with a median follow-up time of 9.56⯱â¯1.83â¯months, and 48 patients (39.7â¯%, 48/121) had postoperative recurrence of AF. Preoperative left atrial stiffness index (LASI) [3.76(3.10-5.44) vs. 2.41(1.75-3.33), Pâ¯<â¯0.001] and left atrial mechanical dispersion (SD-TPS) (15.84⯱â¯5.92vs. 11.58⯱â¯5.96, Pâ¯=â¯0.001) were significantly higher in the postoperative AF recurrence group than in the without recurrence group; Multivariable cox regression analysis showed that LASI>3.15 and SD -TPSâ¯>â¯13.2 were associated with independent risk factors for AF recurrence (hazard ratioâ¯=â¯2.957, 95â¯%CI,1.366-6.399, Pâ¯=â¯0.006 and hazard ratioâ¯=â¯2.892, 95â¯%CI,1.381-6.057, Pâ¯=â¯0.005). CONCLUSION: LASI and SD-TPS were effective predictors of postoperative recurrence of AF in patients with moderate-to-severe rheumatic MS, and LASI >3.15 and SD-TPS% >13.2 were independent influences on the recurrence of AF after Cox Maze in this group of patients.
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Importance: Previous evidence suggests that maternal hepatitis B virus (HBV) infection during prepregnancy or pregnancy is associated with congenital heart diseases (CHDs) in offspring. However, the association of paternal HBV infection with CHDs is not well examined. Objective: To explore the association of paternal preconception HBV infection with CHDs in offspring. Design, Setting, and Participants: This retrospective cohort study used propensity score matching of data from the Chinese National Free Preconception Checkup Project (NFPCP) from January 1, 2010, to December 31, 2018. Male participants whose wives were aged 20 to 49 years, were uninfected with HBV, and successfully conceived within 1 year after prepregnancy examination were enrolled. Data were analyzed from March 2023 to February 2024. Exposures: The primary exposure was paternal preconception HBV infection status, including uninfected, previous infection (both serum hepatitis B surface antigen and hepatitis B envelope antigen negative), and new infection (serum hepatitis B surface antigen positive). Maternal HBV immune status was further classified as immune or susceptible. Main Outcomes and Measures: The main outcome was CHDs, which were collected from the birth defect registration card of the NFPCP. Logistic regression with robust error variances was used to estimate the association between paternal preconception HBV infection and CHDs in offspring. Results: A total of 6 675 540 couples participated in the NFPCP service. After matching husbands with and without preconception HBV infection in a 1:4 ratio, 3 047 924 couples (median age of husbands, 27 years [IQR, 25-30 years]) were included in this study. Of these couples, 0.025% had offspring with CHDs. Previous paternal HBV infection was independently associated with CHDs in offspring (adjusted relative risk [ARR], 1.40; 95% CI, 1.11-1.76) compared with no infection. Similar results were obtained in subgroup analyses according to maternal HBV immune status. Compared with couples with uninfected husbands and susceptible wives, the risk of CHDs in offspring among couples with previously HBV-infected husbands was similar in couples with wives with susceptible immune status (ARR, 1.49; 95% CI, 1.10-2.03) and in those with wives with immunity (ARR, 1.49; 95%CI, 1.07-2.09). A significantly higher CHD risk in offspring was found among couples with newly infected husbands and immune wives (ARR, 1.38; 95% CI, 1.05-1.82), but there was no difference in risk among those with newly infected husbands and susceptible wives (ARR, 0.99; 95% CI, 0.72-1.36). No interactions were found between maternal immune status and paternal HBV infection. Conclusions and Relevance: In this cohort study using propensity score matching, previous paternal preconception HBV infection was associated with CHD risk in offspring. The findings suggest that personalized reproductive guidance regarding HBV screening and staying free of HBV infection should be provided for both wives and husbands.
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AIMS: To retrospectively compare the long-term outcomes following atrial fibrillation (AF) ablation between heart failure (HF) with preserved ejection fraction (EF) (HFpEF) and reduced/mildly reduced EF (HFr-mrEF) patients, and to identify novel predictors of adverse clinical events. METHODS: In total, 1402 AF patients with HF who underwent successful ablation were consecutively enrolled. Adverse clinical events including all-cause death, HF hospitalization, and stroke were followed up. Cox proportional hazards models were used to assess the associations between clinical factors and events. Kaplan-Meier analysis was performed to estimate the cumulative incidences of these events. A receiver operating characteristic curve was used to test the ability of these predictors. RESULTS: During a follow-up period of 42 ± 15 months, 265 (18.9%) patients experienced adverse clinical events after ablation. The cumulative incidence of adverse clinical events was significantly higher in HFr-mrEF than in HFpEF (25.4% vs. 15.7%, P < 0.001), the similar tendency was observed on all-cause death (10.5% vs. 6.5%, P = 0.011) and HF hospitalization (17.2% vs. 10.1%, P < 0.001). After multivariate adjustment, non-paroxysmal AF [hazard ratio (HR) 1.922, 95% confidence interval (CI) 1.130-3.268, P = 0.016], LAD ≥ 45 mm (HR 2.197, 95% CI 1.206-4.003, P < 0.001), LVEF (HR 0.959, 95% CI 0.946-0.981, P < 0.001), and RAD ≥ 45 mm (HR 2.044, 95% CI 1.362-3.238, P < 0.001) remained the independent predictors for developing adverse clinical events. A predictive model performed with non-paroxysmal AF, LAD ≥ 45 mm and RAD ≥ 45 mm yielded an area under curve of 0.728 (95% CI 0.696-0.760, P < 0.001). CONCLUSIONS: AF patients with HFpEF had better long-term outcomes than those with HFr-mrEF, and moderate/severe biatrial dilation could predict adverse clinical events following catheter ablation in AF and HF patients.
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OBJECTIVE: This study aimed to improve the accuracy of prenatal diagnosis by analyzing fetal echocardiographic features of criss-cross heart (CCH), to provide an effective basis for the development of management strategies and improve the prognosis of patients. METHODS: A retrospective analysis was performed on CCH cases diagnosed prenatally at our center between July 2016 and June 2022. Clinical data and prenatal fetal echocardiographic images were reviewed. Literature on prenatal diagnosis of CCH was searched from January 2000 to December 2023 in the PubMed database. RESULTS: Fourteen (0.03%) CCH cases were diagnosed from a database of fetal echocardiograms of 41354 cases at our center. The prenatal genetic testing results were normal in 10 cases and 4 cases didn't check. All cases underwent termination of pregnancy. All cases showed crossed ventricular inflow tracts and combined with other cardiac structural abnormalities. A total of eight articles containing 25 cases were found in the literature review and all cases were associated with other cardiac structural abnormalities. CONCLUSION: Prenatal echocardiography is the primary tool for fetal diagnosis of CCH. Continuous scanning helps avoid missing data and misdiagnosis.
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Corazón con Ventrículos Entrecruzados , Ecocardiografía , Ultrasonografía Prenatal , Humanos , Femenino , Embarazo , Ultrasonografía Prenatal/métodos , Estudios Retrospectivos , Adulto , Ecocardiografía/métodos , Corazón con Ventrículos Entrecruzados/diagnóstico por imagen , Corazón con Ventrículos Entrecruzados/diagnóstico , Corazón Fetal/diagnóstico por imagenAsunto(s)
Paraganglioma , Neoplasias de la Vejiga Urinaria , Humanos , Neoplasias de la Vejiga Urinaria/diagnóstico por imagen , Neoplasias de la Vejiga Urinaria/cirugía , Neoplasias de la Vejiga Urinaria/patología , Paraganglioma/diagnóstico por imagen , Paraganglioma/cirugía , Paraganglioma/patología , Imagen Multimodal , Imagen por Resonancia Magnética , Masculino , Tomografía Computarizada por Rayos X , Femenino , Persona de Mediana EdadAsunto(s)
Neoplasias Cardíacas , Ventrículos Cardíacos , Leiomioma , Humanos , Neoplasias Cardíacas/diagnóstico por imagen , Neoplasias Cardíacas/cirugía , Ventrículos Cardíacos/diagnóstico por imagen , Femenino , Leiomioma/diagnóstico por imagen , Leiomioma/cirugía , Ecocardiografía , Lipoma/diagnóstico por imagen , Lipoma/cirugía , Imagen por Resonancia Cinemagnética/métodos , Persona de Mediana Edad , Diagnóstico DiferencialRESUMEN
Leizhou goats are famous for their delicious meat but have inferior growth performance. There is little information on rumen-protected fat (RPF) from the Leizhou goat. Hence, we observed the effects of RPF on growth, fecal short-chain fatty acids, and bacteria community with respect to Leizhou goats. Twelve goats (13.34 ± 0.024 kg) were selected and assigned randomly to one of two treatments: (1) a control diet (CON) and (2) 2.4% RPF with a control diet (RPF). The final body weight and average daily gain (ADG) were greater (p < 0.05), and the dry matter intake (DMI): ADG was lower (p < 0.05) in the RPF group than in the CON group. There were no differences in DMI between the CON and RPF groups. The concentrations of total short-chain fatty acids, acetate, propionate, and butyrate were lower (p < 0.05) in the RPF group than in the CON group. The relative abundances of Ruminococcus, Rikenellaceae_RC9_gut_group, Treponema, norank_f__norank_o__RF39, Eubacterium_siraeum_group, and Ruminococcus_torques_group were lower (p < 0.05) in the RPF group than in the CON group. The relative abundances of Bacteroides, norank_f__norank_o__Clostridia_UCG-014, norank_f__Eubacterium_coprostanoligenes_group, Eubacterium_ruminantium_group, norank_f__Oscillospirale-UCG-010, Oscillospiraceae_UCG-002, and Family_XIII_AD3011_group were greater (p < 0.05) in the RPF group than in the CON group. It was concluded that RPF could improve the goats' growth performance by regulating their fecal bacteria communities.
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Background: There is no relevant study on landmarks detection, one of the Convolutional Neural Network algorithms, in the field of fetal echocardiography (FE). This study aimed to explore whether automatic landmarks detection could be used in FE correctly and whether the atrial length (AL) to ventricular length (VL) ratio (AVLR) could be used to diagnose atrioventricular septal defect (AVSD) prenatally. Methods: This was an observational study. Two hundred and seventy-eight four-chamber views in end diastole, divided into the normal, AVSD, and differential diagnosis groups, were retrospectively included in this study. Seven landmarks were labeled sequentially by the experts on these images, and all images were divided into the training and test sets for normal, AVSD, and differential diagnosis groups. U-net, MA-net, and Link-net were used as landmark prediction neural networks. The accuracy of the landmark detection, AL, and VL measurements, as well as the prenatal diagnostic effectiveness of AVLR for AVSD, was compared with the expert labeled. Results: U-net, MA-net, and Link-net could detect the landmarks precisely (within the localization error of 0.09 and 0.13 on X and Y axis) and measure AL and VL accurately (the measured pixel distance error of AL and VL were 0.12 and 0.01 separately). AVLR in AVSD was greater than in other groups (P<0.0001), but the statistical difference was not obvious in the complete, partial, and transitional subgroups (P>0.05). The diagnostic effectiveness of AVLR calculated by three models, area under receiver operating characteristic curve could reach 0.992 (0.968-1.000), was consistent with the expert labeled. Conclusions: U-net, Link-net, and MA-net could detect landmarks and make the measurements accurately. AVLR calculated by three neural networks could be used to make the prenatal diagnosis of AVSD.
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Ecocardiografía Tridimensional , Ecocardiografía Transesofágica , Neoplasias Cardíacas , Hemangioma Cavernoso , Humanos , Persona de Mediana Edad , Tabique Interatrial/diagnóstico por imagen , Ecocardiografía Tridimensional/métodos , Ecocardiografía Transesofágica/métodos , Neoplasias Cardíacas/diagnóstico por imagen , Hemangioma Cavernoso/diagnóstico por imagen , Hemangioma Cavernoso/cirugíaAsunto(s)
Atrios Cardíacos , Imagen Multimodal , Tuberculosis Cardiovascular , Humanos , Ecocardiografía , Granuloma/diagnóstico por imagen , Atrios Cardíacos/diagnóstico por imagen , Cardiopatías/diagnóstico por imagen , Imagen por Resonancia Cinemagnética/métodos , Imagen Multimodal/métodos , Tomografía Computarizada por Rayos X/métodos , Tuberculosis Cardiovascular/diagnóstico por imagenRESUMEN
The plectin (PLEC) gene is crucial in regulating muscle development and maintaining the cytoskeleton. An abnormal expression of PLEC can lead to muscle atrophy and muscular dystrophy. In a previous study, we found that Leizhou black goats exhibit abundant structural variations in the PLEC gene. However, the genetic effects of these variations on growth traits and meat quality in goats are not fully understood. In this study, three PLEC copy number variations (CNVs) were identified in a population of 417 Leizhou black goats, using quantitative polymerase chain reaction (qPCR) technology. Population distribution analysis revealed a high abundance of various types of these three CNVs. PLEC mRNA was found to be highly expressed in muscle tissue and remained consistently high from 1 month to 24 months after birth. Specifically, the gain type of CNV-1 (chr14: 81056401-81064800) showed a significant association with PLEC mRNA expression in muscle tissue (p < 0.01). The sequence of CNV-1 in PLEC shares similarities with three domain superfamilies associated with muscle development and skin disease. Furthermore, there were significant differences in chest circumference, body weight, carcass weight, the cross-sectional area of the longissimus dorsi lumbar muscle, and shear stress between different types of CNV-1 (p < 0.05). Notably, goats with the CNV-1 gain type demonstrated better phenotypic values compared to those with loss and normal types. These findings suggest that PLEC CNV-1 could play a crucial role in the growth and muscle development of Leizhou black goats, making it a potential marker for assisted selection in goat breeding.
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Background: Patients with total anomalous pulmonary venous connection (TAPVC) generally have symptoms during the neonatal period and infancy, and the fatality rate is extremely high. Most patients do not survive to adulthood. This study analyzed the clinical and transthoracic echocardiographic (TTE) manifestations of adult patients with TAPVC, summarized the echocardiographic characteristics of TAPVC, and identified the factors influencing pulmonary hypertension. Methods: Data from adult patients with TAPVC from Beijing Anzhen Hospital, China, were retrospectively collected for analyses, including sex, age, history of gestation, clinical manifestations, echocardiographic parameters, and blood oxygen levels. Patients were grouped for comparative analyses based on their pulmonary artery systolic pressure (PASP) (≥60 vs. <60 mmHg); 32 atrial septal defect (ASD) patients were included as a control group. Results: (I) Sixteen patients were identified with TAPVC (11 women and 5 men; mean age: 32.2±9.5 years), including 8, 4, and 4 patients with supra-cardiac, mixed, and intracardiac type TAPVC, respectively. Furthermore, 10 patients had moderate or severe tricuspid regurgitation, and 6 had a PASP of ≥60 mmHg. Echocardiography misdiagnosed 2 patients with an ASD. (II) The TAPVC group patients had a smaller left atrium (LA) and a lower aorta/pulmonary artery ratio than ASD-only group patients. However, the right ventricular diameter (RVd) and right atrium were larger in patients with TAPVC than in those with only ASD. (III) The RVd was larger and the LA was smaller in patients with a PASP of ≥60 mmHg than in those with a PASP of <60 mmHg. (IV) Of those with a PASP of ≥60 mmHg, TAPVC patients had a smaller LA and a larger RVd than those with only ASD. (V) Pregnancy affected the PASP (adjusted odds ratio: 15.000, 95% confidence interval: 1.031-218.300, P=0.047). (VI) Echocardiography indicated that TAPVC patients with ASD had a right to left shunt at the atrial level and the pulmonary vein (PV) was not connected to the LA. Conclusions: Searching for the PV by TTE is necessary for patients with ASDs, which may help avoid misdiagnosis. Moreover, pregnancy affects the PASP. Patients with TAPVC may present with a larger right heart, smaller LA, and lower aorta/pulmonary artery ration than those with only ASD.
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OBJECTIVE: To summarize the clinical features and spectrum of genetic variants in 12 patients with Loeys-Dietz syndrome (LDS), and to explore the correlation between the type of genetic variants and clinical phenotypes. METHODS: Twelve patients suspected for LDS at Beijing Anzhen Hospital Affiliated to Capital Medical University from January 2015 to January 2022 were selected as the study subjects. Clinical data of the patients were collected. Genomic DNA was extracted from peripheral blood samples and subjected to genetic testing. Pathogenicity of candidate variants was analyzed. RESULTS: The clinical phenotypes of the 12 patients have mainly included cardiovascular, musculoskeletal, craniofacial, skin, ocular and other systemic signs. Four patients (patients 5-1, 5-2, 6, 7) have carried heterozygous missense variants of the TGFBR1 gene, 5 patients (patients 1-1, 1-2, 2, 3, 4) have carried heterozygous variants of the TGFBR2 gene, and 2 patients (patients 8-1, 8-2) had carried heterozygous frameshift variants of the TGFB3 gene. One patient (patient 9) had carried a heterozygous missense variant of the SMAD3 gene. Among these, TGFBR1 c.603T>G (p.1201M) and TGFB3 c.536delA (p.H179FS35) had not been reported previously. CONCLUSION: Variants of the TGFBR1, TGFBR2, SMAD3, TGFB2, TGFB3 and SMAD2 genes are mainly associated with LDS. The severity of the disease phenotype caused by the same variant may vary, whilst the clinical phenotype caused by different variant sites may be specific.
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Síndrome de Loeys-Dietz , Humanos , Síndrome de Loeys-Dietz/genética , Receptor Tipo I de Factor de Crecimiento Transformador beta/genética , Receptor Tipo II de Factor de Crecimiento Transformador beta/genética , Factor de Crecimiento Transformador beta3 , CaraRESUMEN
Fetal congenital heart disease (FCHD) is a common, serious birth defect affecting â¼1% of newborns annually. Fetal echocardiography is the most effective and important technique for prenatal FCHD diagnosis. The prerequisites for accurate ultrasound FCHD diagnosis are accurate view recognition and high-quality diagnostic view extraction. However, these manual clinical procedures have drawbacks such as, varying technical capabilities and inefficiency. Therefore, the automatic identification of high-quality multiview fetal heart scan images is highly desirable to improve prenatal diagnosis efficiency and accuracy of FCHD. Here, we present a framework for multiview fetal heart ultrasound image recognition and quality assessment that comprises two parts: a multiview classification and localization network (MCLN) and an improved contrastive learning network (ICLN). In the MCLN, a multihead enhanced self-attention mechanism is applied to construct the classification network and identify six accurate and interpretable views of the fetal heart. In the ICLN, anatomical structure standardization and image clarity are considered. With contrastive learning, the absolute loss, feature relative loss and predicted value relative loss are combined to achieve favorable quality assessment results. Experiments show that the MCLN outperforms other state-of-the-art networks by 1.52-13.61% when determining the F1 score in six standard view recognition tasks, and the ICLN is comparable to the performance of expert cardiologists in the quality assessment of fetal heart ultrasound images, reaching 97% on a test set within 2 points for the four-chamber view task. Thus, our architecture offers great potential in helping cardiologists improve quality control for fetal echocardiographic images in clinical practice.
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Cardiopatías Congénitas , Diagnóstico Prenatal , Embarazo , Femenino , Recién Nacido , Humanos , Ecocardiografía , Cardiopatías Congénitas/diagnóstico , Corazón Fetal/diagnóstico por imagen , Ultrasonografía Prenatal/métodosRESUMEN
Background: Premature ductus arteriosus constriction (DA Con) can result in right ventricular enlargement, right ventricular hypertrophy, and tricuspid regurgitation. Method: This study retrospectively analyzed 34 singleton fetuses that underwent fetal echocardiography with a diagnosis of DA Con (16 cases with mild to moderate, and 18 cases with moderate to severe) and 45 healthy fetuses. The morphology and function parameters of cardiac, as well as the 24-Segment of ventricles, were compared between the DA Con group and controls, and between the mild to moderate and moderate to severe groups, using the fetal heart quantification (FHQ) technology. Results: There were no significant difference in left ventricular parameters in DA Con group when compared to controls. Moreover, fetal 4CV-GSI was significantly reduced, as well as the sphericity index (SI), fractional shortening (FS), global longitudinal strain (GS) and fractional area change (FAC) of right ventricle, especially in the basal-middle segments. Compared with the mild to moderate group, LV-FS increased and RV-FS decreased in moderate to severe group. Conclusion: The results showed that the fetal heart in the DA Con group was different from the controls in morphology and function. FHQ technology provides a comprehensive assessment for the evaluation of cardiac morphological and functional changes in DA Con fetuses.
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The tissue inhibitors of metalloproteinases 3 (TIMP3) play an essential role in the tumorigenesis of human pancreatic endocrine tumors and Sorsby fundus dystrophy. To further investigate the significance of TIMP3 in disease, we used CRISPR/Cas9 to create a TIMP3 knock out human embryonic stem cell line (WAe009-A-89) that can differentiate into any desired cell type. Our results show that the WAe009-A-89 cell line retains the typical colony form and normal karyotype of stem cells. The cells strongly expressed pluripotency markers and could differentiate into tissues of all three germ layers in vivo. This cell line allowed exploring the role of the TIMP3 gene in related diseases.
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Células Madre Embrionarias Humanas , Degeneración Macular , Humanos , Sistemas CRISPR-Cas , Línea Celular , Células Madre Embrionarias/metabolismo , Degeneración Macular/genética , Células Madre Embrionarias Humanas/metabolismo , Inhibidor Tisular de Metaloproteinasa-3/genética , Inhibidor Tisular de Metaloproteinasa-3/metabolismoRESUMEN
Congenital heart disease (CHD) is a worldwide problem with high morbidity and mortality. Early diagnosis of congenital heart disease is still a challenge in clinical work. In recent years, few studies indicated that placental methylation may be predictors of CHD. More studies are needed to confirm the association between placental methylation and CHD. The aim of this study was to investigate the association between prenatal placental DNA methylation and CHD. Placental tissues were obtained from four fetuses during the second trimester with isolated, non-syndromic congenital heart disease, including three cases with double outlet right ventricle (DORV) and one case with tetralogy of Fallot (TOF), and four unaffected fetuses as controls. The Illumina Infinium Human Methylation 850K BeadChip assay was employed to identify differential methylation sites (DMSs) and differential methylation regions (DMRs). Differential methylation was evaluated by comparing the ß-values for individual CpG loci in cases vs. controls. In addition, the function of genes was assessed through KEGG enrichment analysis, Gene Ontology (GO) analysis and KEGG pathway analysis. Compared with the control group, we identified 9625 differential methylation genes on 26,202 DMSs (p < 0.05), of which 6997 were hyper-methylation and 2628 were hypo-methylation. The top 30 terms of GO biological process and KEGG enrichment analysis of DMSs were connected with multiple important pathways of heart development and disease. Ten differentially methylated regions and the genes related to DMRs, such as TLL1, CRABP1, FDFT1, and PCK2, were identified. The deformity caused by the loss of function of these genes is remarkably consistent with the clinical phenotype of our cases. The DNA methylation level of placental tissue is closely associated with fetal congenital heart disease.
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Cardiopatías Congénitas , Tetralogía de Fallot , Femenino , Humanos , Embarazo , Metilación de ADN/genética , Placenta , Cardiopatías Congénitas/genética , Tetralogía de Fallot/genética , Feto , Epigénesis Genética , Metaloproteinasas Similares a Tolloid/genéticaRESUMEN
AIMS: Copy number variant-sequencing (CNV-seq) and exome sequencing (ES) have been used as powerful tools in understanding the role of genetic variants in congenital heart diseases (CHDs). A few previous large cohort studies have utilized CNV-seq and ES to investigate prenatally diagnosed CHD. Here, we sought to determine the value of CNV-seq and ES for genetic evaluation of foetal CHDs. METHODS AND RESULTS: We recruited 398 pregnant women diagnosed with CHDs between 8 January 2017 and 30 November 2020. CNV-seq and ES were performed on foetal and parent samples. CHD cases were classified following the guidelines of the International Paediatric and Congenital Cardiac Code and the Tenth and Eleventh Revisions of the International Classification of Diseases. Data on aneuploids (AUP), pathogenic CNVs (pCNVs), and single nucleotide variants (SNVs) were collected and compared, following appropriate procedures. We identified genetic abnormalities in 129 (32.41%) foetuses. These abnormalities included AUP (10.80%), pCNVs (13.32%), and SNVs (8.04%). ES analysis yielded higher SNVs in cases without AUP or pCNVs. Non-isolated CHDs were associated with higher genetic abnormalities than isolated CHDs, mainly due to AUP differences between the two groups. The prevalence of genetic defects was the highest in foetuses with atrioventricular septal defects (AVSD), left ventricular outflow tract obstruction (LVOTO), and conotruncal defects (CTD). AVSD and anomalies of atrioventricular junctions and valves were associated with AUP abnormalities. CTD, anomalies of extrapericardial arterial trunks, and anomalies of the ventricular outflow tracts were the most common CHD categories diagnosed using CNVs. The most common CHDs associated with single ventricle (SV) abnormalities were heterotaxy (Hex) (14.89%), LVOTO (14.58%), and ventricular septal defect (VSD) (26.67%, 4/15). Although the ES yields were higher than CNV-seq for VSD (44.4%, 4/9), LVOTO (20%, 7/35), Hex (14.89%, 7/47), and CTD (9.1%, 11/121), its diagnostic yield did not increase for SV (6.7%, 1/15), AVSD (3.8%, 1/26), or right ventricular obstruction defects (2.6%, 1/38). The most common mutations were observed in KMT2D, CHD7, and NOTCH1. CONCLUSIONS: To our knowledge, this is the largest cohort study to investigate the incidence of SNVs using ES in foetal CHD. CNV-seq and ES identified genetic abnormalities in nearly 1/3 of foetal CHD cases. Thus, CNV-seq and ES can provide clinically relevant information for pregnancy management.
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Cardiopatías Congénitas , Defectos de los Tabiques Cardíacos , Humanos , Femenino , Embarazo , Niño , Estudios de Cohortes , Cardiopatías Congénitas/epidemiología , Cardiopatías Congénitas/genética , Cardiopatías Congénitas/diagnóstico , FetoRESUMEN
Despite recent breakthroughs in diagnosis and treatment, congenital heart defects (CHDs) continue to be the leading cause of death among newborns. Fetal echocardiography is the most effective and non-invasive method for the prenatal diagnosis of CHDs. However, the challenge of obtaining standard views can lead to a low diagnostic accuracy. To explore new methods for training, the combined use of cardiovascular casting, computed tomography (CT) scanning, and virtual ultrasound generation methods was studied to preserve the cardiac structures of a fetus in digital form. The feasibility of the proposed workflow was verified by testing three fetal heart specimens collected after the termination of pregnancy. As a result, the anatomical structures were imaged clearly by a CT scan after cardiovascular casting, and the virtually generated ultrasound images based on the use of the Public software Library for UltraSound imaging research (PLUS) toolkit successfully demonstrated both the standard views and the views with diagnostic values for the visualization of the cardiovascular structures. This solution provides great data extensibility while being simple and cost-effective for end users. Therefore, the proposed method could provide a promising educational system for trainees to understand standard views of fetal echocardiography and the corresponding anatomical correlations.