Search Results (105)

Hypoplastic or absent fetal nasal bone (NB) is a significant soft marker in the risk assessment for aneuploidies. This study aimed to evaluate prenatal findings and perinatal outcomes in fetuses with absent or hypoplastic NB managed at our center. This retrospective analysis was conducted at the Department of Obstetrics at the Medical University of Vienna and including all cases with an absent or hypoplastic fetal NB between 2004 and 2022. Clinical data were extracted and analyzed using descriptive statistics. A total of 149 cases were included. Of these, 51% had chromosomal abnormalities, with trisomy 21 present in 30.9%. Malformations were identified in 55% of cases, most commonly congenital heart defects (34.9%) and facial dysmorphism (28.9%). Eighteen fetuses (12.1%) had structural anomalies without genetic disorders. In 32.9% (n = 49), the NB anomaly was isolated. Our findings show that only half of the cases had chromosomal abnormalities, and over half of the pregnancies resulted in live births with generally favorable perinatal outcomes. However, the presence of additional ultrasound abnormalities significantly increased the risk of adverse outcomes. Therefore, detection of a fetal NB anomaly should prompt comprehensive ultrasound evaluation and genetic testing. Full article

Fetal alcohol spectrum disorder (FASD) is a preventable cause of developmental disabilities linked to prenatal alcohol exposure (PAE). Congenital heart defects (CHDs) are frequently observed in FASD, with a notable association between PAE and dextro-type transposition of the great arteries (d-TGA). A potential pathogenetic mechanism of d-TGA in FASD, involving retinoic acid (RA) deficiency due to the interference of ethanol with RA biosynthesis, is proposed. Further investigation is required to understand the timing and impact of alcohol exposure on congenital anomalies, particularly in the context of CHDs. Full article

Background/Objectives: The aim of this study was to determine the prevalence of functional cardiovascular anomalies detected on fetal echocardiography in third-trimester large-for-gestational-age (LGA) fetuses, who were subsequently born as macrosomic newborns with a birth weight exceeding 4000 g. Methods: A retrospective study was conducted on 1002 fetuses examined during the third trimester at our fetal cardiology center between 2018 and 2024. All fetuses were classified as having “normal heart anatomy” (NHA). Statistical analysis was performed using Microsoft Excel 2024, Statistica 13.1, and EasyMedStat (version 3.37.1). A p-value of <0.05 was considered statistically significant. Results: The 1002 fetuses were divided into two groups. The study group (NHA-LGA) consisted of 167 fetuses born with a weight of >4000 g and the control group (NHA-AGA) was made up of 835 fetuses with a birth weight between 2500 and 4000 g. In the NHA-LGA group, 24 fetuses (14.4%) experienced ductal constriction (DC), while in the NHA-AGA group, it was 11 (1.3%) fetuses (p < 0.00001). Myocardial hypertrophy was observed in 30 fetuses (18.0%) in the NHA-LGA group versus 72 (8.6%) in the NHA-AGA group (p < 0.0003). Additionally, cardiomegaly was noted in 95 fetuses (11.4%) in the NHA-LGA group, compared to 37 (4.4%) in the NHA-AGA group (p < 0.0004). Conclusions: LGA fetuses with normal heart anatomy may present with functional cardiovascular anomalies, including ductal constriction, myocardial hypertrophy, and cardiomegaly. In our cohort, such anomalies were identified in up to 51% of cases. These findings suggest that targeted fetal echocardiographic screening in macrosomic fetuses could be clinically valuable, even in the absence of structural heart defects, and may aid in the early identification of functional cardiac alterations that could impact perinatal management. Full article

Congenital Rubella Syndrome (CRS) results from maternal infection with the rubella virus during pregnancy, particularly in the first trimester, when the risk of vertical transmission and severe fetal damage is highest. CRS is characterized by a broad spectrum of congenital anomalies, including sensorineural hearing loss, congenital heart defects, cataracts, neurodevelopmental delay, and behavioral disorders. Despite the absence of specific antiviral therapies, active immunization remains the only effective strategy to prevent rubella infection and its congenital consequences. Global immunization efforts, particularly in the Americas, have led to the elimination of rubella and CRS in several countries. However, challenges persist in the post-elimination era, including declining vaccine coverage, vaccine hesitancy, and setbacks caused by the COVID-19 pandemic. Diagnosis relies on maternal serology, fetal imaging, postnatal antibody testing, and molecular techniques. Management requires long-term, multidisciplinary follow-up due to the complex and lifelong sequelae affecting sensory, motor, and cognitive development. This review highlights the clinical, epidemiological, and pathophysiological aspects of CRS, while emphasizing the urgent need to maintain high vaccination coverage and strengthen surveillance systems. Sustained public health commitment is essential to prevent the reemergence of rubella and protect future generations from this preventable syndrome. Full article

The heart and placenta have simultaneous embryologic development, the interactions between the two organs representing the heart–placental axis. They both share key developmental pathways, one of which involves the placental growth factor (PlGF) and its receptor, vascular endothelial growth factor receptor-1 (VEGFR-1). The aim of this study was to evaluate the placental pathology and the expression patterns of PlGF and VEGFR-1 in pregnancies with fetuses with congenital heart defects (CHDs). We analyzed placental gross and microscopic alterations between placentas from pregnancies with CHD fetuses and pregnancies with structurally normal heart fetuses. We also performed the immunohistochemical (IHC) assessment of the placental expression of PlGF and VEGFR-1 in the two groups. We discovered significant gross placental abnormalities in pregnancies with CHD fetuses, including a shorter umbilical cord, marginal or velamentous umbilical cord insertion, and a lower fetal-to-placental weight ratio. Also, 88.2% of the placentas in the CHD group displayed microscopic pathologic aspects. We demonstrated significant placental immunostaining for PlGF and VEGFR-1 in the syncytiotrophoblast and decidual cells compared to villous endothelial cells. We identified a lower placental IHC expression of PlGF in pregnancies with CHD fetuses compared to controls but no differences in the placental immunostaining pattern for VEGFR-1 between the two groups. Our study uncovered a potential role played by the PlGF/VEGFR-1 pathway in the development of CHDs through placental-mediated mechanisms. Full article

Background/Objectives: Iron is a fundamental micronutrient. Its deficiency could have a potentially harmful influence on maternal and fetal well-being. Methods: This review synthesizes current evidence on the epidemiology, consequences, and clinical meaning of iron deficiency (ID) and iron deficiency anemia (IDA) in pregnant women. Results: Untreated ID in pregnancy is associated with a wide spectrum of adverse outcomes: maternal clinical symptoms, cardiovascular disturbances, preterm birth, low birth weight, and impaired fetal neurodevelopment. Furthermore, ID has been related to impaired implantation, miscarriage, congenital heart defects, and neurological complications in fetuses. Women with gastrointestinal disorders and low socioeconomic status constitute a high-risk group of developing IDA. ID remains underdiagnosed and suboptimally managed in some clinical practices. Conclusions: This review highlights the critical importance of early detection, individualized supplementation, and public health interventions aimed at reducing iron deficiency during pregnancy. Full article

Background: Craniofacial malformations lie at the heart of fetal alcohol spectrum disorders (FASDs). While there is growing evidence for a genetic component in FASDs, little is known of the cellular mechanisms underlying these ethanol-sensitive loci in facial development. The bone morphogenetic protein (Bmp) signaling pathway-dependent endoderm pouch formation is a key mechanism in facial development. We have previously shown that multiple Bmp mutants are sensitized to ethanol-induced facial defects. However, ethanol does not directly impact Bmp signaling. This suggests that downstream effectors, like nkx2.3, may mediate the impact of ethanol on Bmp mutants. Methods: We use an ethanol exposure paradigm with nkx2.3 knockdown approaches to test if nkx2.3 loss sensitizes Bmp mutants to ethanol-induced facial defects. We combine morphometric approaches with immunofluorescence and a hybridization chain reaction to examine the cellular mechanisms underlying Bmp–ethanol interactions. Results: We show that Bmp–ethanol interactions alter the morphology of the endodermal pouches, independent of nkx2.3 gene expression. Knockdown of nkx2.3 does not sensitize wild-type or Bmp mutants to ethanol-induced facial defects. However, we did observe a significant increase in CNCC apoptosis in ethanol-treated Bmp mutants, suggesting an ethanol sensitive, Bmp-dependent signaling pathway driving tissue interactions at the heart of FASDs. Conclusions: Collectively, our work builds on the mechanistic understanding of ethanol-sensitive genes and lays the groundwork for complex multi-tissue signaling events that have yet to be explored. Ultimately, our work provides a mechanistic paradigm of ethanol-induced facial defects and connects ethanol exposure with complex tissue signaling events that drive development. 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

Introduction: The relationship between diet of mothers, including supplementation of vitamin D and Long Chain Polyunsaturated Fatty Acids (LC-PUFA), and the prevalence of congenital heart defects (CHD) in the fetus has not been sufficiently studied. The aim of the study was to investigate the relationship between the intake of vitamin D and LC-PUFA by mother (from diet and with supplementation, including its time of implementation and applied dose), and the risk of CHD in the fetus. Methods: This was a case—control study with the participation of a total of 79 women with prenatally diagnosed CHD in the fetus and 121 women without CHD in the fetus. The Food Frequency Questionnaire (FFQ) was used with particular emphasis on vitamin D and DHA supplementation. A univariate logistic regression model was used to evaluate the relationship between selected dietary data and the risk of CHD in the fetus. Results: In the group of females without CHD in the fetus, the mean values of vitamin D intake, including supplementation, and dietary LC-PUFA + DHA from supplementation, were higher than in women with CHD in the fetus (41.3 ± 24.7 vs. 34.7 ± 27.8 μg; p = 0.02 and 831.0 ± 280.1 vs. 767.7 ± 287.6 mg; p = 0.008, for vitamin D and LC-PUFA + DHA respectively). No significant relationship was found between vitamin D intake (including supplementation) or between LC-PUFA + DHA supplementation by pregnant women, and the presence of CHD in their children. Conclusions: It seems that increased maternal intake of vitamin D and LC-PUFA, including DHA, through supplementation, may protect fetus against CHD, but the relationship between the occurrence of CHD and diet in this area need further studies. Full article

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

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

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

Objective. Our objective was to assess the proportion of false-positive CHD cases at the first-trimester evaluation of the fetal heart, performed by experienced operators. Methods. This multicenter retrospective study included of pregnant women with suspicion of CHDs during first-trimester screening for aneuploidies. In all cases, the fetal heart assessments were performed by obstetricians with extensive experience in first-trimester scanning, following an extended protocol proposed by SIEOG national guidelines, which included an axial view of the fetal abdomen and chest to assess visceral situs and evaluation of the four-chamber view (4CV) and three-vessel trachea view (3VTV) with color Doppler. In all suspected cases, fetal echocardiography was offered within 16 and/or at 19–22 weeks’ gestation. Results. From a population of 4300 fetuses, 46 CHDs were suspected. Twenty-four cases were excluded from this analysis because the parents opted for early termination of the pregnancies due to associated structural and/or genetic anomalies. For the remaining 22, echocardiography was performed by 16 weeks in 14 cases (64%) and after 16 weeks in 8 cases. In 19 cases (86.4%), a fetal cardiologist confirmed the presence of a CHD. In three cases (13%), the cardiac anatomy was found to be normal at the fetal echocardiography and postnatally. Conclusions. This study shows that the proportion of false-positive cases at the first-trimester ultrasound examination of the fetal heart, performed by experienced operators, may carry a higher risk of false-positive diagnosis than expected. Therefore, this issue must be discussed in instances where a CHD is suspected at the first-trimester screening. Full article

Background/Objectives: Truncus arteriosus communis (TAC) is a rare congenital heart defect characterized by a single arterial trunk that supplies systemic, pulmonary, and coronary circulations. This defect, constituting approximately 1–4% of congenital heart diseases, poses significant challenges in prenatal diagnosis, management, and postnatal outcomes. Methods: A retrospective analysis was conducted at the local tertiary referral center on cases of TAC diagnosed prenatally between 2019 and 2024. Additionally, a systematic literature review was performed to evaluate the accuracy of prenatal diagnostics and the presence of associated anomalies in fetuses with TAC and compare already published data with the local results. The review included studies that especially described the use of fetal echocardiography, the course and outcome of affected pregnancies, and subsequent management strategies. Results: The analysis of local prenatal diagnoses revealed 14 cases. Of the 11 neonates who survived to birth, the TAC diagnosis was confirmed in 7 instances. With all seven neonates undergoing surgery, the intention-to-treat survival rate was 86%, and the overall survival rate was 55%. By reviewing published case series, a total of 823 TAC cases were included in the analysis, of which 576 were diagnosed prenatally and 247 postnatally. The presence of associated cardiac and extracardiac manifestations as well as genetic anomalies was common, with a 22q11 microdeletion identified in 27% of tested cases. Conclusions: Advances in prenatal imaging and early diagnosis have enhanced the management of TAC, allowing for the detailed planning of delivery and immediate postnatal care in specialized centers. The frequent association with genetic syndromes underscores the importance of genetic counseling in managing TAC. An early surgical intervention remains crucial for improving long-term outcomes, although the condition is still associated with significant risks. Long-term follow-up studies are essential to monitor potential complications and guide future management strategies. Overall, a coordinated multidisciplinary approach from prenatal diagnosis to postnatal care is essential for improving outcomes for individuals with TAC. Full article

Poor placental development and placental defects can lead to adverse pregnancy outcomes such as pre-eclampsia, fetal growth restriction, and stillbirth. This study introduces two sensors, which use a near-infrared spectroscopy (NIRS) technique to measure placental oxygen saturation transabdominally. The first one, an NIRS sensor, is a wearable device consisting of multiple NIRS channels. The second one, a Multimodal sensor, which is an upgraded version of the NIRS sensor, is a wireless and wearable device, integrating a motion sensor and multiple NIRS channels. A pilot clinical study was conducted to assess the feasibility of the two sensors in measuring transabdominal placental oxygenation in 36 pregnant women (n = 12 for the NIRS sensor and n = 24 for the Multimodal sensor). Among these subjects, 4 participants had an uncomplicated pregnancy, and 32 patients had either maternal pre-existing conditions/complications, neonatal complications, and/or placental pathologic abnormalities. The study results indicate that the patients with maternal complicated conditions (69.5 ± 5.4%), placental pathologic abnormalities (69.4 ± 4.9%), and neonatal complications (68.0 ± 5.1%) had statistically significantly lower transabdominal placental oxygenation levels than those with an uncomplicated pregnancy (76.0 ± 4.4%) (F (3,104) = 6.6, p = 0.0004). Additionally, this study shows the capability of the Multimodal sensor in detecting the maternal heart rate and respiratory rate, fetal movements, and uterine contractions. These findings demonstrate the feasibility of the two sensors in the real-time continuous monitoring of transabdominal placental oxygenation to detect at-risk pregnancies and guide timely clinical interventions, thereby improving pregnancy outcomes. Full article