Search Results (65)

Objectives: The increasing use of fetal MRI has increased the diagnosis of posterior fossa malformations, yet the long-term neurodevelopmental outcomes of affected fetuses remain unclear. This study aims to examine the long-term neurodevelopmental outcomes of fetuses with structural posterior fossa malformation diagnosed on fetal MRI. Methods: A historical cohort study was conducted at a single tertiary referral center, including fetuses diagnosed with structural posterior fossa malformations and apparently healthy fetuses who underwent fetal brain MRI between 2011 and 2019. Maternal, pregnancy, and newborn characteristics were compared between groups, alongside long-term neurodevelopmental outcomes using the Vineland Adaptive Behavior Scales II (VABS-II) questionnaire. This included an extensive assessment of malformation types, additional structural, genetic, or neurodevelopmental anomalies, and outcomes. Results: A total of 126 fetuses met the inclusion criteria, of which 70 were apparently healthy fetuses, and 56 had structural posterior fossa malformations. Among the latter, 18 pregnancies were terminated, 4 resulted in neonatal death, and 11 were lost to follow-up. No significant differences were found in the overall neurodevelopmental outcomes between fetuses with structural posterior fossa malformation (93.4 ± 19.0) and apparently healthy fetuses (99.8 ± 13.8). Motor skills scores were lower among fetuses with structural posterior fossa malformations (87.7 ± 16.5 vs. 99.3 ± 17.2, p = 0.01) but remained within the normal range. Conclusion: Fetuses with structural posterior fossa malformations may exhibit normal long-term neurodevelopmental outcomes if no additional anomalies are detected during thorough prenatal screening that includes proper sonographic, biochemical and genetic screening, as well as fetal MRI. Further research with larger cohorts and longer-term assessments is recommended to validate these findings and support clinical decision-making. Full article

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

Pregnant individuals who receive a fetal anomaly diagnosis experience significantly elevated rates of depression, anxiety, and traumatic stress—up to four to six times higher than those for individuals with low-risk pregnancies. In low-risk pregnancies, perinatal mental health conditions are the leading cause of maternal mortality and are associated with adverse birth outcomes, including preterm birth and low birth weight. These risks are likely compounded in pregnancies involving fetal anomalies due to the intersecting psychological and social burdens that complicate maternal well-being and access to care. However, there is a critical gap in understanding how these mental health symptoms translate into diagnoses, treatments, and outcomes due to the absence of a validated screening tool tailored to this population’s unique psychosocial needs. This perspective article reviews evidence, highlights the urgent need for specialized screening, and introduces ongoing research aimed at developing and validating an instrument that integrates both mental health symptoms and broader psychosocial distress. By bridging this gap, structured psychosocial screening has the potential to improve care coordination, facilitate earlier intervention, and mitigate long-term distress for individuals navigating pregnancies affected by fetal anomalies. 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

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

Background/Objectives: Over the years, the potential of the first-trimester (FT) ultrasound in the detection of fetal structural defects has increased. The main objectives of the first-trimester fetal screening evaluation are the detection of major structural anomalies and the diagnosis of additional sonographic markers for chromosomal disorders. When a fetal anomaly is diagnosed, patients have the right to be informed about the risks, necessary interventions, or alternatives. Depending on the severity of the anomalies and the pregnancy period, the legality of the pregnancy termination was evaluated. The aim of this study was to assess the impact of the first-trimester morphological screening of the fetus using an ultrasound protocol according to the latest international protocols (the ISUOG protocol). Methods: Between 1 January 2024 and 31 December 2024, 854 pregnancies with gestational ages between 11 weeks and 13 weeks + 6 days were morphologically evaluated during the nuchal scan in the Obstetrics and Gynecology Department of the Emergency County Hospital from Craiova. Both transabdominal and transvaginal ultrasound in 2D and in a color Doppler mode were used in the scanning technique. The ultrasound findings were correlated with the genetic testing results and pregnancy outcome. The medical law implications were related to the cases where the ultrasound was performed at about 13 weeks of gestation, and the screening genetic results showed an increased pregnancy risk, which arose during the FT. In these cases, we performed amniocentesis at about 16–17 weeks of gestation, and especially, the Non-Invasive Prenatal Testing (NIPT)-positive cases were confirmed by karyotyping. Still, at this gestational age of diagnosis, the Romanian law would not allow abortions. Results: By using this extended FT ultrasound protocol, we detected 58 cases with fetal structural anomalies. Eighteen cases were also associated with genetic syndromes after performing chorionic villous sampling (CVS). Three cases detected with minor structural anomalies (two cases with club foot and one case with a cleft upper lip) were lost to follow-up. Conclusions: Fetal morphological ultrasound evaluation is feasible in the late first trimester. By using an extended ultrasound protocol, we can detect most of the fetal structural anomalies and contribute to better medical counseling and improve pregnancy outcomes. Full article

Background/Objective: Congenital anomalies (CAs) are structural or functional abnormalities contributing to global neonatal morbidity and mortality. Data on antenatally diagnosed CAs in southern Jordan are limited. The present study reports their prevalence and patterns at the Maternal-Fetal Medicine Clinic of a governmental hospital and examines associated maternal, pregnancy, and delivery outcomes. Methods: This retrospective, hospital-based study involved all pregnant women who presented to the clinic between January 2022 to December 2023 and were diagnosed with congenital fetal anomalies. Data about maternal characteristics, classification of fetal anomalies, and pregnancy outcomes were retrieved from medical files. Statistical analyses comprised chi-square tests, Fisher’s exact tests, independent t-tests, and multiple binary logistic regressions. Results: Among the 750 pregnant women, 74 (9.9%) were diagnosed with CAs. Urinary system anomalies were the most common (54.1%), followed by central nervous system (CNS) anomalies (37.8%). Major anomalies constituted 59.5%, whereas 40.5% were minor anomalies. Gestational age at diagnosis and birthweight were significantly associated with major anomalies (p < 0.05). All stillbirths (10.8%) and pregnancy losses before 24 weeks of gestation (9.5%) occurred in cases with major anomalies (p < 0.05). Though preterm delivery rates were higher with major anomalies, this association was not statistically significant. Conclusions: Major CAs (59.5%) in this southern Jordan cohort were strongly linked to stillbirths and early pregnancy loss, highlighting the need for early diagnosis and improved prenatal care. Targeted interventions, including anomaly scans and risk factor (RF) screening, may reduce the 9.9% prevalence observed. Full article

Background/Objectives: Prevalence of umbilical cord cysts is largely unknown, mainly due to small dimensions and to the fact that only placental and fetal insertion of the umbilical cord are usually assessed. Older studies report a total prevalence of about 3%, regardless of the size. To date, no correlation between the gestational age, the size of the cyst at the moment of diagnosis and pregnancy prognosis can be made. Methods: We managed a case of a large umbilical cyst diagnosed in the first trimester. As our experience with this pathology was limited, we performed a systematic review in order to find out the optimal management. Results: We report a case of a large umbilical cord cyst that ended in fetal demise at 13 weeks in the absence of any chromosomal and structural anomalies. Our results differ from what was expected from our literature review. Sixteen papers were included in our analysis. According to the selected papers, single cysts are more frequent than multiple cysts (79% single cysts). The mean value of the maximum diameter of the cyst was 32 mm, and there was no difference in number considering the localization of the cyst. Considering the cases in which genetic testing was performed, there were 22.76% modified results. The most frequent genetic disorder was trisomy 18 (53.57% from the modified results). Conclusions: Large umbilical cord cysts are correlated with uncertain prognosis. We made the conclusion that large umbilical cord cystic lesions might have an unfavorable prognosis. Although there are case series that have shown an unproblematic evolution of the pregnancy, large umbilical cysts could be associated with increased risk of fetal anomalies and intrauterine fetal death. Full article

Background/Objectives: This study aimed to provide a descriptive review of fetal aberrant right subclavian artery (ARSA), with a discussion of the genomic and structural anatomy and perinatal prognosis in our hospital’s obstetric department. Methods: In total, 3266 fetal level II sonographies were performed between January 2020 and June 2023. The 21 cases diagnosed with ARSA were included in this study. Obstetric ultrasound screening, noninvasive prenatal screening, and fetal karyotyping were performed. Fetal echocardiograms, postnatal information, and follow-up data were recorded. Results: In our dataset of 3266 cases, the overall incidence rate of ARSA was 0.6%. Of the 21 fetuses with ARSA, no abnormalities were detected in either prenatal or genetic tests, and no chromosomal anomalies were identified. Conclusions: Our study provides informative insights into ARSA, emphasizing the need for a comprehensive evaluation of its structural and genetic aspects. The findings of this study prompt further exploration, especially regarding the increasing incidence of ARSA and the potential role of advanced genetic analyses in enhancing diagnostic precision and fetal prognostic evaluation. Full article

Omphalocele is a rare congenital abdominal wall defect, occurring in approximately 3.38 per 10,000 pregnancies. It is characterized by the herniation of abdominal organs through the base of the umbilical cord, enclosed by a peritoneal sac. While omphalocele can occur as an isolated anomaly, it is more commonly associated with congenital syndromes and structural abnormalities. Among its most significant complications, pulmonary hypoplasia (PH) and pulmonary hypertension (PPH) have been shown to negatively impact neonatal prognosis. These conditions result from impaired pulmonary vascular development, leading to respiratory distress and hypoxemia. Unlike many congenital disorders, there is no universally accepted surgical approach for omphalocele repair. The choice of surgical strategy depends on multiple factors, including the size of the abdominal wall defect, presence of herniated solid organs, associated anomalies, and severity of pulmonary complications. Notably, giant omphaloceles are frequently linked to lung hypoplasia, as reduced intra-abdominal space restricts fetal lung expansion, leading to structural lung abnormalities and increased pulmonary vascular resistance. These factors contribute to a higher risk of respiratory morbidity and mortality in affected neonates. This literature review examines the prevalence, significance, and clinical implications of the association between omphalocele and pulmonary abnormalities. Through a systematic analysis of published studies, we evaluated 157 full-text articles along with available titles and abstracts. Our findings indicate that infants with omphalocele often exhibit respiratory complications detectable prenatally and at birth. Severe respiratory insufficiency, particularly due to pulmonary hypoplasia and pulmonary hypertension, significantly increases neonatal morbidity and mortality. While surgical correction may initially exacerbate respiratory challenges, most patients demonstrate short-term recovery with appropriate multidisciplinary management. This review highlights the importance of early diagnosis, comprehensive prenatal assessment, and tailored postnatal management to improve outcomes in newborns with omphalocele and associated pulmonary complications. Further research is needed to establish standardized treatment protocols and optimize long-term respiratory outcomes in these patients. Full article

Background: Umbilical artery thrombosis (UAT) masquerading as a single umbilical artery (SUA) is a rare but critical diagnostic challenge in prenatal care. Case Presentation: We described a case of a 22-year-old primigravida with an uneventful obstetric history who presented with reduced fetal movements at 22 weeks of gestation. Ultrasound showed no gross fetal structural anomalies while umbilical artery Doppler flow imaging revealed an isolated SUA. The patient again presented with diminished fetal movement at 24 weeks gestation, and a diagnosis of intrauterine demise was confirmed ultrasonographically. She was then induced and delivered a macerated stillborn female fetus. Placental examination revealed three umbilical vessels with an occlusive thrombus seen within the umbilical artery consistent with UAT, a finding previously mistaken for SUA. Conclusions: This case underscores the diagnostic difficulties of UAT radiologically, especially when there was no prior documented evidence of two umbilical arteries. Identification of at-risk fetuses would allow for close monitoring or effective interventions to be implemented as early as possible to avert preventable fetal loss. Full article

RAC3 encodes a small GTPase of the Rho family that plays a critical role in actin cytoskeleton remodeling and intracellular signaling regulation. Pathogenic variants in RAC3, all of which reported thus far affect conserved residues within its functional domains, have been linked to neurodevelopmental disorders characterized by diverse phenotypic features, including structural brain anomalies and facial dysmorphism (NEDBAF). Recently, a novel de novo RAC3 variant (NM_005052.3): c.196C>T, p.R66W was identified in a prenatal case with fetal akinesia deformation sequence (a spectrum of conditions that interfere with the fetus’s ability to move), and complex brain malformations featuring corpus callosum agenesis, diencephalosynapsis, kinked brainstem, and vermian hypoplasia. To investigate the mechanisms underlying the association between RAC3 deficiency and this unique, distinct clinical phenotype, we explored the pathophysiological significance of the p.R66W variant in brain development. Biochemical assays revealed a modest enhancement in intrinsic GDP/GTP exchange activity and an inhibitory effect on GTP hydrolysis. Transient expression studies in COS7 cells demonstrated that RAC3-R66W interacts with the downstream effectors PAK1, MLK2, and N-WASP but fails to activate SRF-, AP1-, and NFkB-mediated transcription. Additionally, overexpression of RAC3-R66W significantly impaired differentiation in primary cultured hippocampal neurons. Acute expression of RAC3-R66W in vivo by in utero electroporation resulted in impairments in cortical neuron migration and axonal elongation during corticogenesis. Collectively, these findings suggest that the p.R66W variant may function as an activated version in specific signaling pathways, leading to a distinctive and severe prenatal phenotype through variant-specific mechanisms. 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

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

Coxsackievirus group B (CVB), a member of the Picornaviridae family and enterovirus genus, poses risks during pregnancy due to its potential to cause severe fetal and neonatal infections. Transmission primarily occurs through fecal–oral routes, with infections peaking mostly in warmer months. Vertical transmission to the fetus can lead to conditions such as myocarditis, encephalitis, and systemic neonatal disease, presenting clinically as severe myocardial syndromes and neurological deficits. Diagnostic challenges include detecting asymptomatic maternal infections and conducting in utero assessments using advanced techniques like RT-PCR from amniotic fluid samples. Morbidity and mortality associated with congenital CVB infections are notable, linked to preterm delivery, fetal growth restriction, and potential long-term health impacts such as type 1 diabetes mellitus and structural cardiac anomalies. Current treatments are limited to supportive care, with emerging therapies showing promise but requiring further study for efficacy in utero. Preventive measures focus on infection control and hygiene to mitigate transmission risks, which are crucial especially during pregnancy. Future research should aim to fill knowledge gaps in epidemiology, improve diagnostic capabilities, and develop targeted interventions to enhance maternal and fetal outcomes. Full article