Search Results (11)

Congenital heart defects (CHDs) are the most common congenital defect, occurring in approximately 1 in 100 live births and being a leading cause of perinatal morbidity and mortality. Of note, approximately 25% of these defects are classified as critical, requiring immediate postnatal care by pediatric cardiology and neonatal cardiac surgery teams. Consequently, early and accurate diagnosis of CHD is key to proper prenatal and postnatal monitoring in a tertiary care setting. In this scenario, fetal echocardiography is considered the gold standard imaging ultrasound method for the diagnosis of CHD. However, the availability of this examination in clinical practice remains limited due to the need for a qualified specialist in pediatric cardiology. Moreover, in light of the relatively low prevalence of CHD among at-risk populations (approximately 10%), ultrasound cardiac screening for potential cardiac anomalies during routine second-trimester obstetric ultrasound scans represents a pivotal aspect of diagnosing CHD. In order to maximize the accuracy of CHD diagnoses, the views of the ventricular outflow tract and the superior mediastinum were added to the four-chamber view of the fetal heart for routine ultrasound screening according to international guidelines. In this context, four-dimensional spatio-temporal image correlation software (STIC) was developed in the early 2000s. Some of the advantages of STIC in fetal cardiac evaluation include the enrichment of anatomical details of fetal cardiac images in the absence of the pregnant woman and the ability to send volumes for analysis by an expert in fetal cardiology by an internet link. Sequentially, new technologies have been developed, such as fetal intelligent navigation echocardiography (FINE), also known as “5D heart”, in which the nine fetal cardiac views recommended during a fetal echocardiogram are automatically generated from the acquisition of a cardiac volume. Furthermore, artificial intelligence (AI) has recently emerged as a promising technological innovation, offering the potential to warn of possible cardiac anomalies and thus increase the ability of non-cardiology specialists to diagnose CHD. In the early 2010s, the advent of 3D reconstruction software combined with high-definition printers enabled the virtual and 3D physical reconstruction of the fetal heart. The 3D physical models may improve parental counseling of fetal CHD, maternal–fetal interaction in cases of blind pregnant women, and interactive discussions among multidisciplinary health teams. In addition, the 3D physical and virtual models can be an useful tool for teaching cardiovascular anatomy and to optimize surgical planning, enabling simulation rooms for surgical procedures. Therefore, in this review, the authors discuss advanced image technologies that may optimize prenatal diagnoses of CHDs. Full article

The complete transposition of the great arteries (C-TGA) is a congenital cardiac anomaly characterized by the reversal of the main arteries. Early detection and precise management are crucial for optimal outcomes. This review emphasizes the integral role of multimodal imaging, including fetal echocardiography, transthoracic echocardiography (TTE), cardiovascular magnetic resonance (CMR), and cardiac computed tomography (CCT) in the diagnosis, treatment planning, and long-term follow-up of C-TGA. Fetal echocardiography plays a pivotal role in prenatal detection, enabling early intervention strategies. Despite technological advances, the detection rate varies, highlighting the need for improved screening protocols. TTE remains the cornerstone for initial diagnosis, surgical preparation, and postoperative evaluation, providing essential information on cardiac anatomy, ventricular function, and the presence of associated defects. CMR and CCT offer additional value in C-TGA assessment. CMR, free from ionizing radiation, provides detailed anatomical and functional insights from fetal life into adulthood, becoming increasingly important in evaluating complex cardiac structures and post-surgical outcomes. CCT, with its high-resolution imaging, is indispensable in delineating coronary anatomy and vascular structures, particularly when CMR is contraindicated or inconclusive. This review advocates for a comprehensive imaging approach, integrating TTE, CMR, and CCT to enhance diagnostic accuracy, guide therapeutic interventions, and monitor postoperative conditions in C-TGA patients. Such a multimodal strategy is vital for advancing patient care and improving long-term prognoses in this complex congenital heart disease. Full article

This case presents a novel occurrence of a de novo BRCA1 gene deletion in a fetus with a cystic hygroma. Chorionic villus sampling (CVS) was performed for chromosome G-banding analysis, demonstrating a normal karyotype: 46, XX. Chromosome microarray analysis performed as a reflex test revealed an 80 kb deletion on 17q21.31, encompassing the BRCA1 gene. Follow-up FISH analysis performed on parental blood samples yielded negative results, confirming that the deletion was de novo in the fetus. Subsequent anatomic ultrasound evaluation showed no identifiable structural defects, and it was concluded that the microdeletion was unlikely to be the cause of the cystic hygroma. Regardless, it will be imperative that the patient’s daughter be appropriately counseled regarding the implications of carrying a BRCA1 deletion and the need for heightened surveillance in adulthood. As BRCA1 genetic testing is traditionally performed on adult patients with informed consent, this case report highlights the need for ongoing conversations and research in the management of incidental fetal diagnosis discovered during routine prenatal testing, as well as the care and counseling of these patients and their families. Full article

Congenital heart disease (CHD) is one of the most common organ-specific birth defects and a major cause of infant morbidity and mortality. Despite ultrasound screening guidelines, the detection rate of CHD is limited. Fetal intelligent navigation echocardiography (FINE) has been introduced to extract reference planes and cardiac axis from cardiac spatiotemporal image correlation (STIC) volume datasets. This study analyses the cardiac axis in fetuses affected by CHD/thoracic masses (n = 545) compared to healthy fetuses (n = 1543) generated by FINE. After marking seven anatomical structures, the FINE software generated semi-automatically nine echocardiography standard planes and calculated the cardiac axis. Our study reveals that depending on the type of CHD, the cardiac axis varies. In approximately 86% (471 of 542 volumes) of our pathological cases, an abnormal cardiac axis (normal median = 40–45°) was detectable. Significant differences between the fetal axis of the normal heart versus CHD were detected in HLHS, pulmonary atresia, TOF (p-value < 0.0001), RAA, situs ambiguus (p-value = 0.0001–0.001) and absent pulmonary valve syndrome, DORV, thoracic masses (p-value = 0.001–0.01). This analysis confirms that in fetuses with CHD, the cardiac axis can significantly deviate from the normal range. FINE appears to be a valuable tool to identify cardiac defects. Full article

The precise balance of Th1, Th2, and Th17 cytokines is a key factor in successful pregnancy and normal embryonic development. However, to date, not all humoral factors that regulate and influence physiological pregnancy have been completely studied. Our data here pointed out cyclophilin A (CypA) as the adverse pro-inflammatory factor negatively affecting fetal development and associated with pregnancy complications. In different mouse models in vivo, we demonstrated dramatic embryotoxicity and teratogenicity of increased CypA levels during pregnancy. Using generated transgenic models, we showed that CypA overexpression in fetal tissues induced the death of all transgenic fetuses and complete miscarriage. Administration of recombinant human CypA in a high dose to pregnant females during fetal organogenesis (6.5–11.5 dpc) exhibited teratogenic effects, causing severe defects in the brain and bone development that could lead to malformations and postnatal behavioral and cognitive disorders in the offspring. Embryotoxic and teratogenic effects could be mediated by CypA-induced up-regulation of M1 macrophage polarization via activation of the STAT1/3 signaling pathways. Here, we propose secreted CypA as a novel marker of complicated pregnancy and a therapeutic target for the correction of pregnancy complications. Full article

Objective: In fetuses with suspicion of congenital heart disease (CHD), assessment by segmental fetal echocardiography is of great importance. This study sought to examine the concordance of expert fetal echocardiography and postnatal MRI of the heart at a high-volume paediatric heart centre. Methods: The data of two hundred forty-two fetuses have been gathered under the condition of full pre- and postnatal and the presence of a pre- and postnatal diagnosis of CHD. The haemodynamically leading diagnosis was determined for each test person and was then sorted into diagnostic groups. The diagnoses and diagnostic groups were used for the comparison of diagnostic accuracy in fetal echocardiography. Results: All comparisons between the diagnostic methods for detection of congenital heart disease showed an “almost perfect” (Cohen’s Kappa > 0.9) strength of agreement for the diagnostic groups. The diagnosis made by prenatal echocardiography showed a sensitivity of 90–100%, a specificity and a negative predictive value of 97–100%, and a positive predictive value of 85–100%. The diagnostic congruence resulted in an “almost perfect” strength of agreement for all evaluated diagnoses (transposition of great arteries, double outlet right ventricle, hypoplastic left heart, tetralogy of Fallot, atrioventricular septal defect). An agreement of Cohen’s Kappa > 0.9 was achieved for all groups, with exception of the diagnosis of double outlet right ventricle (0.8) in prenatal echocardiography compared to postnatal echocardiography. This study came to the result of a sensitivity of 88–100%, a specificity and negative predictive value of 97–100%, and a positive predictive value of 84–100%. The performance of cardiac magnetic resonance imaging (MRI) as an additional measure to echocardiography had an added value in the description of the malposition of the great arteries when diagnosed with double outlet right ventricle and in the detailed description of the anatomy of the lung circulation. Conclusions: Prenatal echocardiography could be shown to be a reliable method for detection of congenital heart disease when regarding the slightly lower accuracy of diagnosis for double outlet right ventricle and right heart anomalies. Furthermore, the impact of examiner experience and the consideration of follow-up examinations for further improvement of diagnosis accuracy may not be underestimated. The main advantage of an additional MRI is the possibility to obtain a detailed anatomic description of the blood vessels of the lung and the outflow tract. The conduction of further studies that include false-negative and false-positive cases, and studies that are not set within the high-risk-group, as well as studies in a less specialized setting, would allow the completion and investigation of possible differences and discrepancies when comparing the results that have been obtained in this study. Full article

Open spina bifida is one of the most common congenital defects of the central nervous system. Open fetal surgery, which is one of the available therapeutic options, remains the gold standard for prenatal repairs. Fetoscopic closure may lower the number of maternal complications associated with open fetal surgery. Regardless of the approach, the outcome may be compromised by the development of tethered spinal cord (TSC) syndrome. At 24.2 weeks of gestation, a primipara was admitted due to fetal myelomeningocele and was deemed eligible for fetoscopic repair. Fetal surgery was performed at 25.0 weeks of gestation. It was the first complete untethering of the spinal cord and anatomic reconstruction (dura mater, spinal erectors, skin) achieved during a fetoscopic repair of spina bifida. Cesarean section due to placental abruption was performed at 31.1 weeks of gestation. VP shunting, with no need for revision, was performed at 5 weeks postdelivery due to progressing ventriculomegaly. No clinical or radiological signs of secondary tethering were observed. Neurological examination at 11 months postdelivery revealed cranial nerves without any signs of damage, axial hypotonia, decreased muscle tone in the lower extremities, and absent pathological reflexes. Motor development was slightly retarded. Complete untethering of the neural structures should always be performed, regardless of the surgical approach, as it is the only course of action that lowers the risk for developing secondary TSC. Full article

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. Full article

Infectious diseases during pregnancy are still a major cause of fetal mortality and morbidity worldwide. The most common teratogenic pathogens are cytomegalovirus (CMV), varicella-zoster virus (VZV), rubeovirus, parvovirus B19, herpes simplex virus (HSV), Toxoplasma gondii, Treponema pallidum and the emergent Zika virus (ZIKV). Ultrasound findings include cerebral anomalies, orbital defects, micrognathia, cardiac defects, hepatosplenomegaly, liver calcifications, abdominal anomalies, skin and limb anomalies, edema, placental and amniotic fluid anomalies and altered Doppler analyses. The classification of ultrasound markers of congenital infections by anatomical region is reported to guide differential diagnosis and prenatal care. Full article

Common arterial trunk is a rare anomaly on its own, but with an intact ventricular septum it is extremely rare. An unexpected finding at autopsy prompted a review of the literature and a review of the developmental considerations associated with the outflow tracts. The case presented was an intrauterine fetal death at 37 weeks gestation. At autopsy, the only anatomic abnormalities were pulmonary dominant common arterial trunk with an intact ventricular septum, ventriculo-arterial septal defect, coarctation and widely patent arterial duct. A review of the literature and the developmental concepts related to the outflow tracts of the developing heart demonstrate the rare nature of this particular variation of common arterial trunk. Full article

Congenital birth defects may result in a critical condition affecting the baby, including severe fetal/neonatal handicap and mortality. Several studies have shown that genetic, nutritional, and environmental factors may have an impact on fetal development and neonatal health. The relevance of essential and toxic elements on fetal development has not yet been fully investigated, and the results of recent research indicate that these elements may be crucial in the assessment of the risk of malformations in neonates. We determined the association between essential and toxic elements and the level of folate in maternal serum (MS) and amniotic fluid (AF), along with neonatal abnormalities. A total of 258 pregnant Polish women in the age group of 17–42 years participated in this study. AF and MS were collected during vaginal delivery or during cesarean section. An inductively coupled plasma mass spectrometry technique was used to determine the levels of various elements in AF and MS. The results of this exploratory study indicate that the levels of essential and toxic elements are associated with fetal and newborn anatomical abnormalities and growth disorders. Full article