Search Results (36)

Objective: To evaluate and compare fetal arterial and venous Doppler parameters in early-onset (EO) and late-onset (LO) fetal growth restriction (FGR), and to assess their performance within the study cohort and their association with composite adverse neonatal outcome (CANO). Methods: This prospective observational cohort study included 184 singleton pregnancies between 24 and 37 weeks of gestation, comprising 91 FGR cases and 93 appropriate-for-gestational-age controls. FGR was defined according to Delphi consensus criteria and classified as EO-FGR (<32 weeks) or LO-FGR (≥32 weeks). All fetuses underwent standardized Doppler assessment of the umbilical artery (UA), middle cerebral artery (MCA), uterine artery (UtA), and ductus venosus (DV). The cerebroplacental ratio (CPR) was calculated. Multivariable logistic regression models were constructed separately for EO-FGR and LO-FGR. Classification performance was evaluated using receiver operating characteristic analysis. CANO was defined as at least one of the following: 5-min Apgar score <7, respiratory distress syndrome, neonatal intensive care unit admission, or preterm birth. Results: In both EO-FGR and LO-FGR, UA PI values were significantly higher, whereas MCA PI and CPR were significantly lower than in controls. CPR demonstrated the highest discriminative performance among arterial parameters in both subgroups. DV Doppler indices were not significantly different in EO-FGR. In LO-FGR, DV S-wave and v-wave velocities were independently associated with FGR. No significant associations were observed between Doppler parameters and CANO in subgroup analyses. Conclusions: Arterial Doppler parameters, particularly CPR, showed consistent alterations in both EO- and LO-FGR. The contribution of venous Doppler parameters differed according to clinical subtype, with additional value observed in LO-FGR. Full article

Backgroud and Objectives: To evaluate conventional Doppler indices and the novel middle cerebral artery (MCA) diastolic deceleration area (DDA) in pregnancies complicated by gestational diabetes mellitus (GDM), and to explore their associations with perinatal outcomes. Prospective case–control study conducted at a tertiary referral perinatology center. Materials and Methods: The study included 83 women with GDM and 92 healthy controls. Standard fetal biometric and Doppler parameters—umbilical artery, MCA, ductus venosus, cerebroplacental ratio, and umbilicocerebral ratio—were assessed, alongside calculation of MCA DDA. Perinatal outcomes were recorded. Results: Most conventional Doppler indices did not differ between groups, except for lower MCA dicrotic notch velocity and higher ductus venosus time-averaged maximum velocity in the GDM group. MCA DDA values did not differ significantly between GDM and control groups (6.67 [5.02–8.20] vs. 7.05 [5.21–8.39] cm·s, p = 0.444) and showed no difference between insulin- and diet-controlled subgroups (p > 0.05). MCA DDA showed significant correlations with gestational age, MCA peak systolic velocity, and birth weight. However, after adjustment for potential confounders, gestational age remained the only independent determinant of MCA DDA. The multivariable analysis evaluating composite adverse neonatal outcomes was limited by the small number of adverse events (n = 14). Conclusions: MCA DDA did not differ between GDM and control pregnancies and primarily reflected gestational age-related physiological variation rather than diabetes specific hemodynamic changes. However, its relationship with adverse neonatal outcomes remains uncertain and requires further investigation in larger prospective studies. Full article

Background/Objectives: Umbilical–portal–systemic venous shunts (UPSVS) are rare fetal vascular anomalies with heterogeneous embryologic origins and variable perinatal implications. Although prenatal diagnosis has increased with advances in fetal imaging, data correlating prenatal subclassification with structural/genetic abnormalities and neonatal outcomes remain limited. Methods: This retrospective study included 50 fetuses prenatally diagnosed with UPSVS at a tertiary referral perinatology center between 2021 and 2025. Cases were subclassified according to the Achiron prenatal classification into Type 1 umbilical–systemic shunt (USS), Type 2 ductus venosus–systemic shunt (DVSS), Type 3a intrahepatic portosystemic shunt (IHPSS), and Type 3b extrahepatic portosystemic shunt (EHPSS). Prenatal ultrasound, Doppler, fetal echocardiography, and genetic testing (karyotype and chromosomal microarray) were analyzed. Perinatal metrics—including structural/genetic anomalies, fetal growth restriction (FGR), termination of pregnancy (TOP), and neonatal outcomes—were evaluated with postnatal verification. Results: The distribution of subtypes was Type 1: 28% (14/50), Type 2: 48% (24/50), Type 3a: 20% (10/50), and Type 3b: 4% (2/50). Gestational age at diagnosis was significantly higher in Type 3a compared with Type 1 and Type 2 (32.2 ± 2.4 vs. 21.1 ± 6.7 and 22.4 ± 5.8 weeks; p < 0.001). Structural anomalies were most frequent in Type 1 (13/14, 92.9%; p < 0.001), while FGR predominated in Type 3a (9/10, 90%; p = 0.006). Ductus venosus (DV) agenesis was universal in Type 1 (14/14) and Type 3b (2/2), absent in Type 2 (0/24), and present in 20% of Type 3a (2/10) (p < 0.001). Genetic abnormalities were detected in 57% of Type 1 (4/7) and 56% of Type 2 (9/16) fetuses, with trisomy 21 most prevalent in Type 2. TOP was highest in Type 1 (8/14, 57.1%; p < 0.001). Adverse neonatal outcomes occurred primarily in Type 1 and Type 3b (p < 0.001), whereas Type 2 demonstrated favorable neonatal outcomes. Conclusions: UPSVS subtype is strongly associated with structural/genetic anomalies, FGR, and neonatal outcomes, underscoring the importance of prenatal subclassification in prognostic assessment and counseling. Type 1 and Type 3b represent the highest—risk subgroups requiring delivery planning in tertiary centers, while Type 2 generally exhibits a benign perinatal course. The association between Type 3a and FGR highlights the need for detailed evaluation of the hepatic venous system in growth-restricted fetuses. However, interpretation of subgroup-specific associations should consider the relatively small sample size of Type 3b cases and the limited genetic testing performed in some Type 3a fetuses. Multicenter prospective studies are warranted to standardize diagnostic algorithms, optimize genetic testing strategies, and refine perinatal management. Full article

Background: Umbilical venous catheter (UVC) placement is common in neonates but carries risks of migration and infection. This study evaluates safety of a novel fixation technique using the umbilical cord clamp after a side-entry insertion. Methods: A retrospective analysis of 264 neonates was conducted at a tertiary center in order to assess safety of the novel UVC fixation method. The new technique involved side-entry catheter insertion without severing the cord, secured to the clamp with a sterile patch. Catheter tip position was confirmed and monitored every 24 h via ultrasound. Results: Catheter migration occurred in 18.9% of cases, mostly inward into the right atrium which was managed by repositioning. Migration into the ductus venosus requiring removal occurred in 0.7% of cases and unscheduled removal due to stump detachment in 1.5%. No central line-associated bloodstream infections (CLABSIs) were observed. Conclusions: The umbilical cord clamp method is a safe, single-operator alternative for UVC fixation. This technique had a low rate of catheter migration, did not increase the risk of infection, and was cost-effective and simple. Full article

Background/Objectives: Fetal growth restriction (FGR) is a leading cause of perinatal morbidity and mortality. Accurate surveillance and timely delivery are critical to improving outcomes. This narrative review examines the role of computerized cardiotocography (cCTG) and short-term variation (STV) interpretation in the monitoring of FGR and its integration with Doppler velocimetry and the biophysical profile (BPP). Methods: A comprehensive literature search of PubMed, Scopus, and Web of Science was performed for studies published up to 2021 using combinations of terms related to FGR, CTG, STV, and Doppler surveillance. Eligible sources included original studies, systematic reviews, and international guidelines. Case reports, intrapartum-only monitoring, and studies involving major anomalies were excluded. Results: Reduced STV consistently correlates with fetal compromise, abnormal Doppler findings, and adverse perinatal outcomes. In early-onset FGR (<32 weeks), ductus venosus abnormalities often coincide with or precede STV reduction; combined use supports optimal timing of delivery. In late-onset FGR (≥32 weeks), STV changes are less pronounced and require integration with cerebroplacental ratio, variability indices, and trend-based interpretation. Longitudinal evaluation offers greater prognostic value than isolated measurements. However, heterogeneity in thresholds, fragmented outcome data, and system-specific definitions limit standardization and comparability across studies. Conclusions: cCTG provides an objective and adjunct to Doppler and BPP in the surveillance of FGR, a tool for obstetrician needs. Its greatest utility lies in serial, integrated assessment, supported by gestational age-specific reference ranges. Future advances should include standardized STV thresholds, large outcome-linked databases, and artificial intelligence-driven tools to refine decision-making and optimize delivery timing. Full article

Background and Objectives: Doppler abnormalities in the ductus venosus (DV) during the first trimester can serve as an early marker for the detection of congenital heart defects (CHDs), but the feasibility of systematically assessing the DV remains underexplored. This study aimed to evaluate the feasibility of performing DV assessments during routine first-trimester ultrasound screenings. Materials and Methods: A multicenter, prospective, and descriptive study was conducted, including singleton pregnancies undergoing routine ultrasound screening between 11 + 0 and 13 + 6 weeks of gestation. Sonographers were instructed to acquire DV Doppler images during the scan, and each image was blindly reviewed by an expert using predefined quality criteria. The images were categorized as “good”, “medium”, or “unsatisfactory”, and feasibility was defined as the proportion of “good” images. Factors associated with feasibility were analyzed, including sonographer satisfaction, the Herman score and the acquisition time. Results: Of the 87 patients included in this study, a suitable DV Doppler image was feasible in 58.6% of cases. The feasibility was significantly higher when the sonographer was satisfied with the image, when the Herman score exceeded seven (p = 0.01), and when the acquisition time was less than five minutes. A strong correlation was observed between the expert’s assessment and the sonographer’s satisfaction. However, the gestational age, maternal BMI, parity, and operator-perceived image quality were not significantly associated with feasibility. Conclusions: The Doppler assessment of the ductus venosus during first-trimester ultrasound screening is feasible and reproducible in routine clinical practice without significantly increasing the examination time. This suggests DV measurements to enhance the early nuchal translucency measurement to enhance the early detection of congenital heart defects during the first trimester. Full article

Background: Noonan syndrome (NS) is a relatively common RASopathy that can be associated with a variety of phenotypic and genotypic variations and potential long-term health consequences. Its most described prenatal ultrasound features in the first trimester are thickened nuchal translucency (NT) and dilated jugular sacs; while heart defects, polyhydramnios and facial dysmorphisms are its known manifestations in the second and third trimesters. Methods: We present two cases of NS with the prenatal ultrasound diagnosis of external hydrocephalus (EH) in the second trimester. Results: Case 1 had a normal first trimester scan and showed mild polyhydramnios, an echogenic intracardiac focus (EIF) in the left ventricle and pyelectasis in the second trimester in association with the EH. The whole exome sequencing (WES) confirmed a pathogenic variant in the SOS1 gene. Case 2 showed increased NT, agenesis of the ductus venosus (DV), single umbilical artery (SUA), an EIF in the right ventricle and an abnormal prefrontal space ratio (PSFR). By the 19th gestational week, EH appeared. The ambient and quadrigeminal cisterns were also slightly widened. The WES revealed a PTPN11 gene variant. Conclusions: The most reported sonographic features of NS are either non-specific or difficult to integrate into routine screening, requiring substantial experience. In our two cases, we detected EH in the second trimester, which is rarely described as a prenatal ultrasound diagnosis. To our current knowledge, this is the first case reported of EH in NS caused by an SOS1 gene variant and these are the first cases reported with the prenatal sonographic diagnosis of EH in NS. Full article

Background/Objectives: The relationship between ultrasound parameters and fetal health in the context of intrauterine growth restriction (IUGR) pregnancies constitutes a significant focus of scholarly research. A comprehensive range of Doppler and echocardiographic evaluations, encompassing the umbilical artery, middle cerebral artery, ductus venosus, uterine arteries, cardiac contractility, ventricular filling, and the thickness of the interventricular septum, has been proposed in pathological pregnancies. Methods: The aim of this paper is to present an examination of these metrics and their implications for fetal health within the framework of IUGR pregnancies and to report a case series in which we analyzed the correlation of these factors. The assessment of these ultrasound indicators can help in better management of the cases in order to obtain better fetal outcomes. Results: Our case study presented dynamics corelated to the after-birth evaluation of the neonate, reflecting the importance of complete ultrasound assessment in high-risk cases. Conclusions: Speckle tracking echocardiography has significantly advanced our understanding of cardiac function in IUGR fetuses. As shown in our cases, it can be used to detect early signs of cardiac dysfunction, differentiating between FGR and SGA. 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

Objective: To assess the prenatal course and early postnatal outcomes of fetuses diagnosed with tricuspid atresia and to identify predictors of survival. Methods: This was a retrospective study of 25 fetuses diagnosed with tricuspid atresia in a single tertiary referral center, evaluating prenatal echocardiographic features and postnatal outcomes. Results: A total of 4 of 29 initially diagnosed fetuses were excluded due to changes in diagnosis or loss to follow-up, leaving 25 fetuses for analysis. Of these, 16 (64%) had concordant VA alignment, 8 (32%) had discordant VA connections, and 1 had a double-outlet left ventricle (DOLV). Pulmonary stenosis was observed in 13 fetuses, and 10 (40%) had extracardiac anomalies. Genetic testing, performed in 5 cases, identified a chromosomal anomaly in one case (trisomy 18). Overall, three pregnancies were terminated due to severe associated anomalies. Among the 22 liveborn infants, survival at 12 months was 72%. Restrictive ventricular septal defect (VSD) and the high ductus venosus pulsatility index were significantly associated with lower survival (p = 0.021 and p = 0.034, respectively). Conclusions: Tricuspid atresia can be accurately diagnosed in utero with a thorough echocardiographic evaluation. Restrictive VSD and outflow tract obstructions are critical determinants of early survival, while abnormal DV Doppler patterns may serve as additional markers for adverse outcomes. More extensive studies are needed to validate these findings and improve prognostic counseling. 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

Background/Objectives: Preeclampsia (PE) is a systemic disease that affects 4.6% of pregnancies. Despite the existence of a first-trimester screening for the prediction of preterm PE, no consensus exists regarding neither the right moment to end the pregnancy nor the appropriate variables to estimate the prognosis. The objective of this study was to obtain a prediction model for perinatal death in patients with preterm PE, useful for clinical practice. Methods: Singleton pregnant women with PE and preterm delivery were included in an observational retrospective study. Multiple maternal and fetal variables were collected, and several multivariable logistic regression analyses were applied to construct models to predict perinatal death, selecting the most accurate and reproducible according to the highest area under the curve (AUC) and the lowest Akaike Information Criteria (AIC). Results: A group of 148 pregnant women were included, and 18 perinatal deaths were registered. Univariable logistic regression selected as statistically significant variables the following: gestational age (GA) at admission, fetal sex, poor response to antihypertensive drugs, PlGF, umbilical artery (UA) pulsatility index (PI), cerebroplacental ratio (CPR), and absent/reversed ductus venosus (DV). The multivariable model, including all these parameters, presented an AUC of 0.95 and an AIC of 76.5. However, a model including only GA and fetal sex presented a similar accuracy with the highest simplicity (AUC 0.93, AIC 67.6). Finally, in fetuses with a similar GA, fetal death became dependent on PlGF and fetal sex, underlying the role of fetal sex in all circumstances. Conclusions: Female fetal sex and low PlGF are notorious predictors of perinatal death in preterm PE, only surpassed by early GA at birth. 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

Umbilical venous (UV) catheters (UVCs) are commonly used in severely ill neonates. Complications associated with UVC often result from an inappropriate UVC position. Calcification of the UV, a rare complication, was observed in an extremely low-birth-weight infant born at 23 weeks of gestation. After birth, the infant experienced respiratory and circulatory dysfunction, followed by disseminated intravascular coagulation (DIC). A UVC was inserted, and circulatory agonists and blood transfusions were administered, as well as a calcium gluconate infusion for hypocalcemia and hyperkalemia. Ten days after birth, calcification was detected in the UV, likely due to a tunica intima injury caused by UVC, a hypercoagulable state due to DIC, and a high-dose calcium gluconate infusion. Additionally, proximal port malpositioning of the double-lumen catheter might have contributed to calcification within the UV. To prevent such complications, real-time ultrasound confirmation with agitated saline contrast during UVC placement is recommended; in the absence of the facility or skills for ultrasonography, X-rays should be performed in the lateral and anteroposterior views. Furthermore, when using multi-lumen catheters, physicians should not only verify the tip position but also ensure proper placement of proximal ports and carefully select medications administered through the ports. Full article