Search Results (48)

Background and Clinical Significance: Brugada syndrome (BrS) is a rare inherited cardiac channelopathy, often associated with SCN5A loss-of-function mutations. Clinical presentations range from asymptomatic to malignant arrhythmias and sudden cardiac death. Physiological and pharmacological stressors affecting sodium channel function—such as pyrexia, certain medications, and possibly pregnancy—may unmask or exacerbate arrhythmic risk. However, there is limited information regarding pregnancy and obstetric outcomes. Obstetric management remains largely informed by isolated case reports and small case series. A literature review was conducted using OVID Medline and Embase, identifying case reports, case series, and one retrospective cohort study reporting clinical presentation, obstetric management, and outcomes in maternal BrS. A case is presented detailing coordinated multidisciplinary input, antenatal surveillance, and intrapartum and postpartum care to contribute to the growing evidence base guiding obstetric care in this complex setting. Case Presentation: A 30-year-old G2P0 woman with asymptomatic BrS (SCN5A-positive) was referred at 31 + 5 weeks’ gestation for multidisciplinary antenatal care. Regular review and collaborative planning involving cardiology, anaesthetics, maternal–fetal medicine, and obstetrics guided a plan for vaginal delivery with continuous cardiac and fetal monitoring. At 38 + 0 weeks, the woman presented with spontaneous rupture of membranes and underwent induction of labour. A normal vaginal delivery was achieved without arrhythmic events. Epidural block with ropivacaine and local anaesthesia with lignocaine were well tolerated, and 24 h postpartum monitoring revealed no abnormalities. Conclusions: This case adds to the limited but growing literature suggesting that with individualised planning and multidisciplinary care, pregnancies in women with BrS can proceed safely and without complication. Ongoing case reporting is essential to inform future guidelines and optimise maternal and fetal outcomes. Full article

Background: Tricuspid regurgitation (TR) is increasingly recognized as a detectable finding during routine fetal echocardiography. Although previous studies have explored its potential role as an indirect marker for congenital heart disease (CHD) in the first trimester, the prognostic significance of isolated mild TR in chromosomally normal and low-risk fetuses during the second and third trimesters remains unclear. Clarifying the clinical relevance of this commonly encountered Doppler finding is essential to guide appropriate prenatal management and avoid unnecessary interventions in low-risk pregnancies. Materials and Methods: This retrospective study reviewed fetal echocardiography reports of 1592 pregnant women referred to a pediatric cardiology clinic after the 20th gestational week between 1 January 2024 and 1 January 2025. Following exclusion criteria, 1072 low-risk pregnancies were included. A total of 136 fetuses with TR were identified, and among them, postnatal echocardiographic outcomes of 60 neonates who underwent transthoracic echocardiography within the first 10 days after birth were analyzed. Results: Among the 1072 low-risk pregnancies included in the study, a total of 136 fetuses were diagnosed with TR on fetal echocardiography. The majority of these cases were characterized as mild and isolated, without accompanying structural abnormalities. Postnatal echocardiographic assessments revealed no major congenital cardiac anomalies, reinforcing the interpretation that isolated mild TR in the context of low-risk pregnancies represents a benign and likely transient physiological finding. Conclusion: Isolated mild TR, particularly in low-risk and chromosomally normal pregnancies, appears to be a transient and clinically insignificant finding. These results support the interpretation of fetal TR in the context of overall clinical and structural evaluation, helping to avoid unnecessary interventions and reduce parental anxiety. Full article

Congenital long QT syndrome (LQTS) is a group of heritable conditions that are associated with cardiac repolarization abnormalities characterized by QT prolongation on electrocardiogram and the risk of life-threatening arrhythmias. The prenatal detection of LQTS presents significant challenges for clinicians, and a multidisciplinary approach is required for optimal prenatal and postnatal management. In this comprehensive literature review, we describe strategies for the fetal diagnosis of LQTS with variable initial presentation, genetic testing in suspected fetal LQTS, the utility of fetal magnetocardiography as an additional diagnostic tool, prenatal management, and postnatal treatment. We focus on a multidisciplinary team approach including fetal cardiology, adult and pediatric electrophysiology, neonatology, maternal–fetal medicine, and genetic counselors, all playing vital roles in the comprehensive prenatal management and orchestration of postnatal treatment to optimize neonatal outcomes. Full article

Background/Objectives: Congenital heart disease (CHD) is the most common birth defect, an important cause of morbidity and mortality, with a reported prevalence of 5–12 per 1000 live births. The aim of our study was to identify the role of fetal morphological ultrasound examination in the first and second trimester of pregnancy in the detection of fetal congenital cardiac anomalies in a low-risk population. Methods: We performed a retrospective study in a tertiary fetal medicine center in Emergency Hospital Craiova, Romania. The longitudinal analysis combined first- and second-trimester screening using improved ultrasound protocols. Our study evaluated 8944 pregnant women with singleton pregnancies in a 6-year period between January 2018 and December 2023. All ultrasound examinations were performed using a standard extended protocol according to the main guidelines’ recommendations for the detection of fetal anomalies. Results: In the first trimester of pregnancy, 37 cases with cardiac anomalies were diagnosed. Thirteen of these cases were associated with genetic anomalies (Down syndrome—eight cases, Edwards syndrome—four cases, Turner syndrome—one case). Some of these pregnancies were associated with at least one of the minor ultrasound markers (inverted ductus venosus, abnormal flow in the tricuspid valve, presence of choroid plexus cysts, absent/hypoplastic nasal bone). In the second trimester of pregnancy, 17 cases of cardiac anomalies were diagnosed. From these cases, one was associated with genetic anomalies (DiGeorge Syndrome), and one case developed hydrops and delivered prematurely in the early third trimester. Conclusions: Ultrasound screening for the detection of congenital heart disease is feasible early in pregnancy, but some anomalies would be obvious later in pregnancy. An early diagnosis using an extended ultrasound protocol, genetic testing, and a multidisciplinary evaluation would improve the prognosis and the overall survival rate by delivering in a tertiary center that allows for rapid cardiac surgery in dedicated cases. Full article

Fetal electrocardiogram (FECG) signals directly reflect the electrical activity of the fetal heart, enabling the assessment of fetal cardiac health. To effectively separate and extract FECG signals from maternal abdominal electrocardiogram (ECG) signals, this study proposed a W-shaped parallel network, termed Attention R2W-Net, which consisted of two Attention R2U-Nets. In the encoder and decoder, recurrent residual modules were used to replace feedforward convolutional layers, significantly enhancing feature representation and improving noise suppression. Additionally, attention gates were used to replace skip connections, enabling precise correction of low-resolution features using deep features and further improving model performance. The decoders at both ends of the network were utilized to reconstruct FECG and MECG signals, respectively. The algorithm was validated using simulated and real datasets, achieving F1 scores of 99.17%, 98.03%, and 97.08% on the ADFECGDB, PCDB, and NIFECGDB datasets, respectively, demonstrating superior performance in both subjective visual effects and objective evaluation metrics. Attention R2W-Net’s ability to extract robustly and accurately FECG signals, even in complex noisy environments, make it a reliable tool for FECG extraction. The proposed method’s efficiency and accuracy highlight its potential for widespread clinical application, contributing to improved early diagnosis of fetal cardiac abnormalities. Full article

Background/Objectives: Cardiac rhabdomyoma (CR), the most frequently occurring fetal cardiac tumor, is often an early marker of tuberous sclerosis complex (TSC). This study evaluates outcomes of fetuses with prenatally diagnosed cardiac tumors managed at a single tertiary center. Methods: Medical records of fetuses diagnosed with cardiac tumors between 2009 and 2024 were retrospectively reviewed. Results: Sixteen cases were identified, with a median follow-up of 6.7 years. TSC was confirmed in 14 cases (88%). Multiple tumors were observed in 13 cases (81%), while 3 cases (19%) had solitary tumors. Both non-TSC cases involved solitary tumors. Cardiac complications (arrhythmias, conduction disorders, and hemodynamic abnormalities) occurred in 38% of cases prenatally and 69% postnatally, with larger tumor diameters significantly associated with complications (p = 0.02). No fetal hydrops or mortality occurred; however, one child died at age five due to a seizure. Postnatal tumor regression occurred in 56% of cases and complete regression in 38% by a median age of 2.3 years (range: 0.6–4.4). One tumor remained stable. Brain MRI revealed TSC-related changes in all TSC-affected patients except one, who had a developmental brain anomaly. Most TSC patients experienced epilepsy (71%) and developmental delays. Conclusion: While CRs are typically benign and regress spontaneously, their strong association with TSC highlights the importance of early diagnosis and family counseling. TSC-related epilepsy and psychomotor delays significantly impair the quality of life. Early mTOR inhibitor therapy offers promise in mitigating TSC-related complications and improving outcomes. Full article

Our primary objective was to assess the effectiveness of detailed cardiovascular ultrasound screening during the first trimester, which was performed by obstetricians with intermediate experience. We collected first-trimester fetal cardiac screening data from an unselected pregnant population at RMC-Fetal Medicine Center during a study period spanning from 1 January 2010, to 31 January 2015, in order to analyze our learning curve. A pediatric cardiologist performed a follow-up assessment in cases where the examining obstetrician determined that the fetal cardiac screening results were abnormal or high-risk. Overall, 42 (0.88%) congenital heart abnormalities were discovered prenatally out of 4769 fetuses from 4602 pregnant women who had at least one first-trimester cardiac ultrasonography screening. In total, 89.2% of the major congenital heart abnormalities (27 of 28) in the following fetuses were discovered (or at least highly suspected) at the first-trimester screening and subsequent fetal echocardiography by the pediatric cardiology specialist. Of these, 96.4% were diagnosed prenatally. According to our results, the effectiveness of first-trimester fetal cardiovascular ultrasound screening conducted by moderately experienced obstetricians in an unselected (’routine’) pregnant population may reach as high as 90% in terms of major congenital heart defects, provided that equipment, quality assurance, and motivation are appropriate. Full article

Congenital titinopathies reported to date show autosomal recessive inheritance and are caused by a variety of genomic variants, most of them located in metatranscript (MTT)-only exons. The aim of this study was to describe additional patients and establish robust genotype–phenotype associations in titinopathies. This study involved analyzing molecular, clinical, pathological, and muscle imaging features in 20 patients who had at least one pathogenic or likely pathogenic TTN variant in MTT-only exons, with onset occurring antenatally or in the early postnatal stages. The 20 patients with recessive inheritance exhibited a heterogeneous range of phenotypes. These included fetal lethality, progressive weakness, cardiac or respiratory complications, hyper-CKemia, or dystrophic muscle biopsies. MRI revealed variable abnormalities in different muscles. All patients presented severe congenital myopathy at birth, characterized by arthrogryposis (either multiplex or axial–distal) or neonatal hypotonia in most cases. This study provides detailed genotype–phenotype correlations in congenital titinopathies caused by mutations in MTT-only exons. The findings highlight the variability in clinical presentation and the severity of phenotypes associated with these specific genetic alterations. RNA-seq analyses provided valuable insights into the molecular consequences of TTN variants, particularly in relation to splicing defects and nonsense-mediated RNA decay. In conclusion, this study reinforces the genotype–phenotype correlations between congenital myopathies and variants in TTN MTT-only exons, improves their molecular diagnosis, and provides a better understanding of their pathophysiology. Full article

Introduction: Antenatal diagnosis of cardiac abnormalities and counselling parents about postnatal care require a multidisciplinary team, which includes a paediatric cardiologist, a neonatologist, and a fetal medicine physician. Some of these kinds of expertise are not available in all centres with fetal medicine expertise. However, with modern technology, this could be provided remotely. Our objective was to assess the feasibility and outcomes of prenatal multidisciplinary tele-echocardiography diagnostic and counselling services. Materials and Methods: Two centres based in separate countries provided a joint diagnostic and counselling service over a period of 14 months. The primary centre performed the fetal echocardiography with a Voluson E10 machine, and images were transmitted live using Zoom OPS system with video-consultation and counselling. The fetal echo was performed using the ISUOG Guidelines check list. Results: There was an initial feasibility period of 2 months during which 10 women whose fetuses had normal hearts were scanned to test the workability of the system. Over a period of 12 months, 513 high-risk fetuses were then scanned, and out of these, 27 had congenital malformations. The most common were hypoplastic left heart syndrome (HHLS) and atrio-ventricular septal defect. Tele-echocardiography and counselling were successful in all the cases. Satisfaction with the service was 3.8/4, with the main limitation being the need for further referral to a tertiary centre for delivery. Conclusions: Tele-echocardiography is reliable, and when combined with live counselling and support from a paediatric cardiologist, it is an option acceptable to patients. The greatest benefit was from being counselled by a team of experts at a single consultation rather than having to travel to another centre for consultation. With rapidly evolving technology, making video transmission easier and less expensive, we feel that consideration should be given not only to the development of tele-echocardiography but also to extending it to other aspects of fetal medicine. Full article

Introduction: This review aims to investigate the clinical implications of using the myocardial performance index (MPI), obtained through tissue Doppler imaging (TDI) and spectral Doppler, in assessing fetal cardiac function in growth-restricted fetuses. It explores the MPI’s potential in predicting adverse perinatal outcomes and its utility when combined with conventional pulsed-wave Doppler assessments for enhanced fetal well-being evaluations. Material and Methods: A systematic search of PubMed and Google Scholar databases spanning from 2004 to 2023 was conducted to identify pertinent articles on the MPI’s clinical application in managing growth-restricted fetuses. Inclusion criteria followed the Fetal Medicine Barcelona definition of fetal growth restriction (FGR) to mitigate study group heterogeneity. The research sources were PubMed and Google Scholar databases, and the review was conducted without any specific clinical or laboratory setting. Only articles meeting the inclusion criteria for FGR, as per the Fetal Medicine Barcelona definition, were considered. Six studies meeting these criteria were included in the review. The review analyzed the correlation between MPI values and conventional Doppler parameters, investigating the progression of myocardial function impairment and its association with the risk of fetal demise. The primary outcome measures included the relationship between MPI values, fetal well-being, and the potential for prenatal cardiac dysfunction in growth-restricted fetuses. Results: The findings indicate that as conventional Doppler parameters deteriorate, MPI values increase, suggesting progressive myocardial dysfunction. The MPI may cross the 95th percentile before abnormal flow in the ductus venosus and aortic isthmus, highlighting the potential for diastolic dysfunction preceding hypoxia in growth-restricted fetuses. Elevated MPI levels were observed in both growth-restricted and small-for-gestational-age (SGA) fetuses, indicating prenatal cardiac impairment. The strong association between an abnormal MPI and perinatal mortality has been shown for early FGR. Conclusions: MPI alterations appear to precede abnormal Doppler parameters in early- and late- onset FGR, potentially indicating diastolic dysfunction preceding hypoxia. Additionally, the MPI correlates with the risk of fetal demise. However, larger studies are needed to establish its sensitivity and specificity. Furthermore, the significance of prenatal cardiac impairment in some SGA fetuses raises questions about its potential impact on perinatal outcomes and cardiovascular programming. Full article

Objective: A late mid-trimester fetal organ scan (lMTS) is recommended between 18 and 22 weeks of pregnancy. Evidence has been accumulating on the effectiveness of first-trimester anatomy scans. Early mid-trimester fetal scans (eMTSs; 14–17 weeks) may have the advantage of visualization of most organs, hence allowing earlier genetic assessment and decision making. Our aim is to examine the effectiveness of eMTSs in identifying fetal anomalies compared to lMTSs. Methods: A retrospective study was conducted based on data from the multidisciplinary prenatal diagnosis clinic in a tertiary center. During the study period (2011–2021), an out-of-pocket eMTS in a community setting was offered routinely to the general population. Women who had previously undergone an eMTS and were later assessed due to a fetal anomaly in our clinic were included in the study. The cohort was divided into two groups according to whether the anomaly had been detected during the eMTS. We then compared the groups for factors that may be associated with anomaly detection in eMTSs. We used t-tests and chi-square tests, for quantitative and qualitative variables, respectively, to determine variables related to eMTS anomaly detection, and logistic regression for multivariate analysis. Results: Of 1525 women assessed in our multidisciplinary clinic, 340 were included in the study. The anomaly detection rate of the eMTS compared to the lMTS was 59.1% The eMTS detection rates for specific organ systems were as follows: skeletal, 57%; cardiac, 52%; congenital anomalies of the kidneys and urinary tract (CAKUT), 44%; central nervous system, 32.4%; chest, 33%; and abdominal, 28%. In multivariate analysis, abnormal first-trimester screening (aOR 3.2; 95%CI 1.26–8.08) and multiple anomalies (aOR 1.86; 95%CI 1.02–3.37) were found to be associated with eMTS anomaly detection. Conclusions: The eMTS detection rate was nearly 60% and was most accurate in detecting skeletal, cardiac, and CAKUT anomalies. Since the eMTS was community-based, this rate likely reflects a “real-world” scenario. Our findings support consideration of performing an eMTS or first-trimester scan routinely for earlier diagnosis and decision making, as an adjunctive to lMTSs. Future studies will examine the cost-effectiveness of early scans. Full article

Introduction: The prevalence of ductus venosus agenesis (ADV) in singleton pregnancies ranges from 0.04% to 0.15%, while its prevalence in twins remains largely unknown. To our knowledge, in the literature, there is only a single case report of a monochorionic diamniotic (MCDA) pregnancy complicated by ADV. Fetuses with ADV are at increased risk for congenital cardiac disease, heart failure, and fetal growth restriction (FGR). Consequently, these pregnancies have a heightened risk of experiencing an adverse outcome, like stillbirth and neonatal or infant death. Closer antenatal monitoring is warranted when ADV is suspected. Currently, there are no guidelines regarding the standard of care in cases of ADV and no recommendations for the timing of delivery in either singleton or twin pregnancies. Cases: This study aims to provide a comprehensive overview of the management of twin pregnancies complicated by ADV, featuring two cases of MC twins with concurrent sFGR and ADV in one twin. Discussion: These pregnancies experienced completely different outcomes, underscoring the necessity for personalized management tailored to the specific risk factors present in each pregnancy. Typically, in MCDA pregnancies with severe sFGR (type II and III), delivery represents the most reasonable option when venous Doppler abnormalities are identified. However, the absence of the DV complicates the management and the process of decision-making regarding the timing of delivery in cases of sFGR and ADV. We emphasize that effective decision-making should be guided by the presence of additional risk factors, including velamentous insertion, significant estimated fetal weight discordance, and progressive deterioration of the Doppler over time. Conclusions: Our experience suggests that these factors are strongly correlated with poorer outcomes. Given this context, could it be acceptable, in the case of MC pregnancy complicated by severe sFGR and ADV, with worsening findings and additional risk factors (e.g., velamentous insertion, severe birth weight discrepancy), to anticipate the time of delivery starting from 30 weeks of gestational age? Full article

Noonan syndro me is a rare autosomal dominant congenital abnormality associated with a gene defect located on the short arm of chromosome 12. It is characterized by dysmorphic facies, webbed neck, short stature, lymphatic obstruction, cardiac anomalies, and intellectual disability. Prenatal diagnosis of Noonan syndrome is rare because there are no pathognomonic sonographic signs. Studies on the prenatal sonographic features of Noonan syndrome have been reported in very limited numbers. This case series of severe fetal Noonan syndrome, together with a literature review, was conducted to establish prenatal sonographic features highly suggestive of Noonan syndrome to facilitate early detection by clinicians. This study reveals that Noonan syndrome has a relatively specific pattern, which facilitates prenatal molecular genetic diagnosis. Increased nuchal translucency (NT) in the late first trimester and fluid collection in the early second trimester could be warning signs for follow-up, prompting further investigation to detect late-onset features and leading to molecular genetic confirmation. Most structural abnormalities appear in the second trimester, with progressive changes noted throughout gestation. This review better characterizes the sonographic features of fetal Noonan syndrome based on a larger sample size, illustrating a wider spectrum of prenatal phenotypes, including lymphatic drainage disorders, cardiac abnormalities, polyhydramnios, and absent ductus venosus. Full article

Fetal magnetic resonance imaging (fMRI) represents a second-line imaging modality that provides multiparametric and multiplanar views that are crucial for confirming diagnoses, detecting associated pathologies, and resolving inconclusive ultrasound findings. The introduction of high-field magnets and new imaging sequences has expanded MRI’s role in pregnancy management. Recent innovations in ECG-gating techniques have revolutionized the prenatal evaluation of congenital heart disease by synchronizing imaging with the fetal heartbeat, thus addressing traditional challenges in cardiac imaging. Fetal cardiac MRI (fCMR) is particularly valuable for assessing congenital heart diseases, especially when ultrasound is limited by poor imaging conditions. fCMR allows for detailed anatomical and functional evaluation of the heart and great vessels and is also useful for diagnosing additional anomalies and analyzing blood flow patterns, which can aid in understanding abnormal fetal brain growth and placental perfusion. This review emphasizes fMRI’s potential in evaluating cardiac and thoracic structures, including various gating techniques like metric optimized gating, self-gating, and Doppler ultrasound gating. The review also covers the use of static and cine images for structural and functional assessments and discusses advanced techniques like 4D-flow MRI and T1 or T2 mapping for comprehensive flow quantification and tissue characterization. Full article

Kidney failures in infants are mostly caused by congenital anomalies of the kidney and urinary tract (CAKUT), which are among the most common congenital birth disorders worldwide when paired with cardiac abnormalities. People with CAKUT often have severe kidney failure as a result of a wide range of abnormalities that can occur alone or in conjunction with other syndromic disorders. In this study, we aimed to investigate the expression pattern of CAKUT candidate genes alpha-8 integrin (ITGA8) and Van Gogh-like 2 (VANGL2) in fetal tissues of healthy and CAKUT-affected kidneys using immunohistochemistry and immunofluorescence. We found that under CAKUT circumstances, the expressions of ITGA8 and VANGL2 are changed. Additionally, we showed that VANGL2 expression is constant during fetal aging, but ITGA8 expression varies. Moreover, compared to normal healthy kidneys (CTRL), ITGA8 is poorly expressed in duplex kidneys (DKs) and dysplastic kidneys (DYS), whereas VANGL2 is substantially expressed in dysplastic kidneys (DYS) and poorly expressed in hypoplastic kidneys (HYP). These results point to VANGL2 and ITGA8 as potential prognostic indicators for CAKUT malformations. Further research is necessary to explore the molecular mechanisms underlying this differential expression of ITGA8 and VANGL2. Full article