Absence of Ductus Venosus: A Comparison of 2 Distinctive Fetal Autopsy Cases and Embryologic Perspectives.

In fetal circulation, oxygenated blood from the placenta flows through the umbilical vein into the ductus venosus (DV), then enters the inferior vena cava, and subsequently reaches the right atrium of the heart. The DV serves as a shunt, allowing this oxygen-rich blood to bypass the liver. The absence of the DV (ADV), also known as agenesis of the DV, is a rare congenital anomaly. Without a DV, blood from the umbilical vein must follow alternative routes to the heart. In ADV cases, blood from the umbilical vein must follow 1 of 2 primary drainage patterns: either an extrahepatic shunt or an intrahepatic shunt. This report details the antenatal ultrasound and postmortem findings of 2 fetuses diagnosed with ADV by prenatal imaging studies. The first case involved a fetus with a persistent right umbilical vein connected directly to the suprahepatic IVC, accompanied by early obliteration of the left umbilical vein and true agenesis of the DV. This fetus also had additional congenital anomalies. In contrast, the second case involved a fetus with a normal left umbilical vein that entered the liver. However, despite an ultrasound diagnosis of "absence" of the DV, a DV was present, though markedly hypoplastic and probably minimally functional or non-functional. In this case, blood from the umbilical vein likely followed an alternate intrahepatic route through the portal and hepatic veins, before reaching the heart (intrahepatic shunt). These contrasting cases emphasize the heterogeneity of vascular anomalies and embryologic origins captured by the term "ADV." Additionally, the terminology of "absence" or "agenesis" may be misleading in some purported ADV cases. Specifically, in the second case, the DV was not absent; it was markedly hypoplastic instead. This also appears to be the first reported case of a hypoplastic DV in a fetus. Both cases underscore the importance of effective collaboration and clear communication between maternal-fetal medicine specialists and pathologists.

In-utero evaluation of the fetal umbilical-portal venous system among fetuses with persistent right umbilical vein: Two-and three-dimensional ultrasonographic study.

OBJECTIVE: The aim of this study was to describe the anatomy of the portal system in fetuses with persistent right umbilical vein (PRUV). METHODS: Prospective observational study of fetuses diagnosed with PRUV. All patients underwent a comprehensive portal system anatomy scan supplemented by two-dimensional (2D) and three-dimensional (3D) color doppler modalities. RESULTS: 29 fetuses with PRUV were studied. We perceived an identical anatomical pattern in 28 fetuses. The right umbilical vein drains to the portal sinus (future right portal vein, RPV), which has a configuration of a left portal vein (LPV) in the normal left portal system, with three emerging branches: inferior (RPVi), medial (RPVm) and superior (RPVs). The RPV then courses to the left, towards the stomach to the point of the bifurcation of the main portal vein (MPV) to become the left portal vein. The LPV has an RPV configuration in a normal portal system with anterior (LPVa) and posterior (RPVp) branches. This anatomical layout mimics a mirror image of the normal anatomy of left portal system. CONCLUSION: PRUV has unique umbilical portal venous anatomy, which is a mirror image of the normal left portal system. It can be demonstrated prenatally and serve as an additional tool for prenatal diagnosis of PRUV.

Isolated fetal umbilical vein varix and the association with intrauterine fetal death and fetal growth restriction: A systematic review, meta-analysis, and nested retrospective cohort study.

OBJECTIVES: To assess the risk of intrauterine fetal death (IUFD) and fetal growth restriction (FGR) in fetuses with an isolated fetal intra-abdominal umbilical vein varix (i-FIUVV). METHODS: A retrospective cohort study combined with a systematic review and meta-analysis of the literature was performed. In the retrospective cohort study, all singleton fetuses with an i-FIUVV in the fetal medicine units of the Amsterdam UMC (between 2007 and 2023) were analyzed. The primary outcome measures were IUFD and FGR. The sample proportions of IUFD and FGR were depicted as risk percentages. The IUFD proportion was compared to the regional reference population and the FGR proportion was compared to the reported proportions in Europe. The secondary outcome measures were gestational age at diagnosis, initial and maximal FIUVV diameter, fetal monitoring in pregnancy, turbulent flow in the varix, thrombus formation in the varix, induction of labor, gestational age at birth, and birthweight centile. The proportion of fetuses with a birthweight below the 10th centile was compared with that of the regional reference population. The systematic review included all cases from eligible literature published between 2007 and 2023 supplemented by the data of our retrospective cohort study. In the systematic review and meta-analysis, the pooled proportions of IUFD and FGR were assessed in fetuses with i-FIUVV. RESULTS: The retrospective cohort included 43 singletons with an i-FIUVV. The IUFD risk was 0% [Confidence Interval, CI: 0%-8.2%], which did not differ significantly from 0.3% in the reference population, p = 1.0. The risk of FGR was 16.3% [CI: 6.8%-30.7%] in the studied population, which is higher than the reported incidence of FGR in Europe ranging from 5%-10%. The proportion of fetuses with birthweights below the 10th centile was higher in our cohort compared with the reference population (23.3 vs. 9.9%, p < 0.01). The systematic review included 12 articles, three abstracts, and our current cohort. In total, 513 cases with an i-FIUVV were included. The pooled risk was 0.4% [CI: 0.1%-1.7%] for IUFD and 5.2% [CI: 1.1%-21.3%] for FGR. The mean gestational age at birth did not exceed 39 weeks in neither the cohort (38.7 weeks) nor the pooled literature (37.6 weeks). CONCLUSION: An i-FIUVV in singletons is not associated with an increased IUFD risk up to 39 weeks of gestation but is possibly associated with FGR. The incidence of FGR in our cohort was higher than in the pooled literature (16.3% vs. 5%) but FGR definitions in the included studies varied. The proportion of birthweights below the 10th percentile in our cohort was significantly higher than in the reference group. Thus, based on these findings, we suggest conducting sonographic growth assessments while simultaneously assessing the i-FIUVV. No further monitoring and follow-up are indicated up to 39 weeks of gestation. After 39 weeks of gestation, data on fetuses with i-FIUVV and their outcomes are lacking.

Effects of umbilical vein flow on midbrain growth and cortical development in late onset fetal growth restricted fetuses: a prospective cross-sectional study.

OBJECTIVES: To investigate midbrain growth, including corpus callusum (CC) and cerebellar vermis (CV) and cortical development in late fetal growth restricted (FGR) subclassified according to the umbilical vein blood flow (UVBF) values. METHODS: This was a prospective study on singleton fetuses late FGR with abnormal placental cerebral ratio (PCR). FGR fetuses were further subdivided into normal (≥fifth centile) and abnormal (

Association between Doppler assessment and secondary cesarean delivery for intrapartum fetal compromise in small-for-gestational-age fetuses.

PURPOSE: To elucidate the association between arterial and venous Doppler ultrasound parameters and the risk of secondary cesarean delivery for intrapartum fetal compromise (IFC) and neonatal acidosis in small-for-gestational-age (SGA) fetuses. METHODS: This single-center, prospective, blinded, cohort study included singleton pregnancies with an estimated fetal weight (EFW) < 10th centile above 36 gestational weeks. Upon study inclusion, all women underwent Doppler ultrasound, including umbilical artery (UA) pulsatility index (PI), middle cerebral artery (MCA) PI, fetal aortic isthmus (AoI) PI, umbilical vein blood flow (UVBF), and modified myocardial performance index (mod-MPI). Primary outcome was defined as secondary cesarean section due to IFC. RESULTS: In total, 87 SGA pregnancies were included, 16% of which required a cesarean section for IFC. Those fetuses revealed lower UVBF corrected for abdominal circumference (AC) (5.2 (4.5-6.3) vs 7.2 (5.5-8.3), p = 0.001). There was no difference when comparing AoI PI, UA PI, ACM PI, or mod-MPI. No association was found for neonatal acidosis. After multivariate logistic regression, UVBF/AC remained independently associated with cesarean section due to IFC (aOR 0.61 [0.37; 0.91], p = 0.03) and yielded an area under the curve (AUC) of 0.78 (95% CI, 0.67-0.89). A cut-off value set at the 50th centile of UVBF/AC reached a sensitivity of 86% and specificity of 58% for the occurrence of cesarean section due to IFC (OR 8.1; 95% CI, 1.7-37.8, p = 0.003). CONCLUSION: Low levels of umbilical vein blood flow (UVBF/AC) were associated with an increased risk among SGA fetuses to be delivered by cesarean section for IFC.

Evaluation of the type of fetal umblical-portal anastomosis in late-onset fetal growth restriction: A case-control study.

PURPOSE: To evaluate the type of umbilical-portal anastomosis in late-onset fetal growth restriction (LO-FGR) and appropriate for gestational age (AGA) fetuses. To investigate the impact of the type of umbilical-portal anastomosis on the adverse outcomes in LO-FGR. METHOD: This study observed 150 pregnancies with AGA fetuses and 62 pregnancies with fetuses with LO-FGR. In each case, the point of reference for measuring the abdominal circumference was established. The type of umbilical-portal anastomosis was evaluated as T-shaped, X-shaped, and H-shaped according to the shape of main portal vein and portal sinus. Incidences of the type of umbilical-portal anastomosis in AGA and LO-FGR fetuses were evaluated. RESULTS: T-shaped anastomosis was the most common (56.7%) in the AGA group and X-shaped (66.1%) in the LO-FGR group. In LO-FGR, T-shape anastomosis was significantly lower and X-shape anastomosis was significantly higher than AGA (p < 0.001). X-shaped anastomosis was associated with LO-FGR and the RR was 2.3 (95% CI 1.5-3.6; p < 0.001). Incidences of admission to NICU and emergency C/S for fetal distress were higher in fetuses with X -shaped anastomosis in the LO-FGR (p < 0.05). CONCLUSION: X-shaped umbilical-portal anastomosis have a prognostic significance in LO-FGR fetuses.

Prenatal Detection and Postnatal Outcome of Persistent Left Superior Vena Cava and Agenesis of Ductus Venosus Associated with Postnatal Bovine Aortic Arch.

BACKGROUND: Isolated agenesis of ductus venosus (ADV) is usually a benign condition, but it may be associated with cardiovascular defects, hydrops, growth restriction, and chromosomal abnormalities. Additionally, persistent left superior vena cava (PLSVC) and bovine aortic arch are relatively common fetal anomalies. To the author's knowledge, this is the first report of prenatal detection of DV agenesis and PLSVC associated with the postnatal bovine aortic arch with a hypoplastic transverse aortic arch. CASE: A 25-year-old, G2P1 woman was referred to our department at 31 weeks due to fetal growth restriction and short femur. On fetal echocardiography, DV could not be viewed via two-dimensional (2D) and Doppler ultrasound (US) imaging; there was also evidence of the co-occurrence of PLSVC and an aortic arch anomaly. We revealed the intrahepatic continuation of the umbilical vein. A weekly follow-up program was scheduled for the patient and the rest of the pregnancy was uneventful. Postnatal, thorax computer tomography and transthoracic echocardiography (TTE) demonstrated PLSVC and bovine aortic arch associated with hypoplastic transverse aortic arch. Routine echocardiographic examinations revealed that the blood flow of the aortic arch had increased gradually, and the male infant's aortic arch had significantly widened and reached the normal range until the baby was discharged from the hospital. CONCLUSION: DV agenesis and PLSVC are usually benign conditions but underlying serious heart diseases may accompany them. Therefore, in situations like ours, a prenatal aortic arch evaluation is of capital importance. Postnatal hemodynamic changes should be taken into consideration in the management of these cases. This is the first example in the literature that these abnormalities co-existed in one case.

Are multiple projections necessary when assessing umbilical venous catheter placement in neonates? A retrospective study.

INTRODUCTION: There is variability in clinical practice regarding the number of radiographic views required to accurately determine umbilical venous catheter (UVC) tip position. Some units prefer performing a single anteroposterior (AP) view and others do both AP and lateral views. The aim of this study was to compare the need for one versus two radiographical views to accurately determine UVC tip position. METHODS: Radiographs of 382 infants (all gestations) from two level six neonatal units were included in the study. Patients with congenital anomalies and those who had adjustment of UVC position between AP and lateral films being performed were excluded. Six clinicians reviewed anonymized AP only images and documented UVC tip position. Subsequently, they reviewed both AP and lateral views and again documented the UVC tip position. Results were compared to the expert consensus which was taken from the consensus of two paediatric radiologists. RESULTS: The study population had a mean gestational age of 32.8 weeks and birth weight of 2190 g, with 58% males. The UVC tip positions were accurately determined 76% times by the AP view alone and 82% times by using both the AP and lateral views (P < 0.001). The low placed UVC tip position which is the most inappropriate for use was more accurately determined by two images (78% times) rather than single image (70% times) (P < 0.001). CONCLUSIONS: Utilising both AP and lateral views was superior in accurately determining UVC tip position to AP view alone.

Spontaneous echo contrast and decreased umbilical vein blood flow may predict thrombus formation in fetal intra-abdominal umbilical vein varix.

PURPOSE: Fetal intra-abdominal umbilical vein varix (FIUVV) can cause thrombosis, fetal growth restriction (FGR), and intrauterine fetal death (IUFD). However, its management and evaluation to avoid fetal risks have not been elucidated. The aim of this study was to develop a novel method to evaluate fetal risks, including FGR and fetal dysfunction via frequent ultrasound examinations. METHODS: A 28-year-old pregnant woman was diagnosed with FIUVV via ultrasound at 26 weeks of gestation and admitted to our hospital. Ultrasound examinations were performed two to three times weekly to evaluate size and shape of the FIUVV and umbilical vein blood flow at the inflow and outflow sites of the FIUVV. RESULTS: The outflow site of the FIUVV was constricted and collapsed, and the blood flow velocity at the inflow site of the FIUVV was decreased. At 32 weeks of gestation, spontaneous echo contrast (SEC), which indicates increased echogenicity, appeared. At 35 weeks of gestation, the patient noticed decreased fetal movement, and CTG showed non-reassuring fetal status. SEC in the FIUVV was remarkable. Fetal movement could not be confirmed at ultrasound. Cesarean section was performed and a 1,854-g healthy infant was delivered with an umbilical cord arterial pH of 7.266. CONCLUSION: The echographic changes, such as decreased umbilical vein blood flow and SEC, in FIUVV observed in this case could indicate thrombus formation, which can lead to fetal dysfunction. Frequent ultrasound examinations can help determine the timing of delivery and improve the neonatal prognosis.

Association between Portal Vein Thrombosis after Umbilical Vein Catheterization and Neonatal Asphyxia.

INTRODUCTION: Neonatal portal vein thrombosis (PVT) is frequently related to umbilical venous catheterization (UVC), but risk factors remain unclear. This study aims to analyze the variables associated to PVT in near- to full-term newborns with UVC, with a focus on newborns exposed to controlled therapeutic hypothermia (CTH) for hypoxic ischemic encephalopathy (HIE). METHODS: This is retrospective cohort study of infants delivered at or after 36 weeks and with a birthweight over 1,500 g. All infants were assessed for UVC location and PVT using ultrasonography performed between day 5 and day 10 after catheterization. RESULTS: Among 213 eligible patients, PVT was diagnosed in 57 (27%); among them, 54 (95%) were localized in the left portal vein branch. With all significant factors in univariate analysis considered, higher gestational age at birth (adjusted OR 1.35; 95% CI: 1.12-1.64, p = 0.002) and duration of UVC placement (adjusted OR 1.36; 95% CI: 1.11-1.67, p = 0.004) were the main risk factors of PVT. Among 87 infants who were cooled for HIE, 31 (36%) had PVT compared to 26 (21%) in infants without CTH. Using a multivariate model including variables linked to treatment procedures only, an increased PVT incidence was statistically associated with UVC duration (adjusted OR 1.33; 95% CI: 1.08; 1.63, p = 0.01) and CTH (adjusted OR 1.94; 95% CI: 1.04-3.65, p = 0.04). CONCLUSION: Left PVT was frequently observed in near- to full-term neonates with UVC. Among factors linked to treatment procedures, both duration of UVC and CTH exposure for HIE were found to be independent risk factors of PVT.

The types of connections between the portal sinus and main portal vein in foetuses / Tipos de conexiones entre el seno portal y la vena porta principal en fetos

In the prenatal period, the three types of connections between the portal sinus and main portal vein have been published in the literature: T, X and H-shaped. The T type is the most frequent in the literature, and the aim of our study is to define the percentage of the connection types during the prenatal period in our population. In this prospective study, 237 women between 20 and 38 weeks of pregnancy without a foetal anomaly or pregnancy-related complications were included, and the precordial veins of the foetuses were examined using a wide-band color Doppler technique. The types of connections were determined by two specialists according to the shape of the colour coded vessels in Doppler examinations. The criteria of Czubalski & Aleksandrowicz (2000) were used. All of the connection types in patients were confirmed using video clips and were stored in the picture archiving and communication system. In 237 patients, the types of connection were determined by the first specialist as 189 foetuses (79.7 %) with the X-shaped or side-to-side connection, 16 foetuses (6.8 %) with the T-shaped or end-to-side type and 32 foetuses (13.5 %) with the H-shaped or parallel-coursed vessels connected with a short segment. The most common types of connections between the portal sinus and main portal vein in foetuses are X shaped or side-to-side, which is contrary to previous studies.

En el período prenatal, se han publicado en la literatura los tres tipos de conexiones entre el seno portal y la vena porta principal: en forma de T, X y H. El tipo T es el más frecuente, y el objetivo de nuestro estudio fue definir el porcentaje de tipos de conexión durante el período prenatal en nuestra población. En este estudio prospectivo, se incluyeron 237 mujeres entre 20 y 38 semanas de embarazo, sin anomalías fetales o complicaciones relacionadas con el embarazo, y se examinaron las venas precordiales de los fetos utilizando una técnica Doppler de banda ancha. Los tipos de conexiones fueron determinados por dos especialistas según la forma de los vasos codificados por color en los exámenes Doppler. Se utilizaron los criterios del estudio de Czubalski & Aleksandrowicz. Todos los tipos de conexión en los pacientes se confirmaron mediante videoclips y se almacenaron en el sistema de comunicación y en archivo de imágenes. En 237 pacientes, el primer especialista determinó en 189 fetos (79,7 %) la conexión en forma de X o de lado a lado; en 16 fetos (6,8 %) la forma de T o Tipo de extremo a lado; y en 32 fetos (13,5 %) los vasos en forma de H o paralelos, conectados con un segmento corto. Los tipos más comunes de conexiones entre el seno portal y la vena porta principal en los fetos son en forma de X o de lado a lado, lo que es contrario a estudios anteriores.

Accuracy of chest radiography for positioning of the umbilical venous catheter / Acurácia da radiografia de tórax para o posicionamento do cateter venoso umbilical

Abstract Objectives: To evaluate the accuracy of the simultaneous analysis of three radiographic anatomical landmarks - diaphragm, cardiac silhouette, and vertebral bodies - in determining the position of the umbilical venous catheter distal end using echocardiography as a reference standard. Methods: This was a cross-sectional, observational study, with the prospective inclusion of data from all neonates born in a public reference hospital, between April 2012 and September 2013, submitted to umbilical venous catheter insertion as part of their medical care. The position of the catheter distal end, determined by the simultaneous analysis of three radiographic anatomical landmarks, was compared with the anatomical position obtained by echocardiography; sensitivity, specificity, positive predictive value, negative predictive value, and accuracy were calculated. Results: Of the 162 newborns assessed by echocardiography, only 44 (27.16%) had the catheter in optimal position, in the thoracic portion of the inferior vena cava or at the junction of the inferior vena cava with the right atrium. The catheters were located in the left atrium and interatrial septum in 54 (33.33%) newborns, in the right atrium in 26 (16.05%), intra-hepatic in 37 (22.84%), and intra-aortic in-one newborn (0.62%). The sensitivity, specificity and accuracy of the radiography to detect the catheter in the target area were 56%, 71%, and 67.28%, respectively. Conclusion: Anteroposterior radiography of the chest alone is not able to safely define the umbilical venous catheter position. Echocardiography allows direct visualization of the catheter tip in relation to vascular structures and, whenever possible, should be considered to identify the location of the umbilical venous catheter.

Resumo Objetivos: Avaliar a acurácia da análise simultânea dos três marcos anatômicos radiográficos - diafragma, silhueta cardíaca e corpos vertebrais - na determinação da posição da extremidade distal do cateter venoso umbilical com a ecocardiografia como padrão de referência. Métodos: Estudo transversal, observacional, com inclusão prospectiva de dados de todos os neonatos nascidos em uma maternidade pública de referência, entre abril de 2012 e setembro de 2013, submetidos à inserção de cateter venoso umbilical como parte do atendimento clínico. A posição da extremidade distal do cateter, determinada pela análise simultânea dos três marcos anatômicos radiográficos, foi comparada com a posição anatômica obtida pela ecocardiografia. Sensibilidade, especificidade, valor preditivo positivo, valor preditivo negativo e acurácia foram calculados. Resultados: Dos 162 recém-nascidos avaliados por ecocardiografia, somente 44 (27,16%) estavam com o cateter em posição ótima, na porção torácica da veia cava inferior ou na junção da veia cava inferior com o átrio direito. Os cateteres foram localizados no átrio esquerdo e no septo interatrial em 54 (33,33%), no átrio direito em 26 (16,05%), no intra-hepático em 37 (22,84%) e na aorta em um recém-nascido (0,62%). A sensibilidade, especificidade e acurácia da radiografia para detectar cateter na zona-alvo foram de 56%, 71% e 67,28%, respectivamente. Conclusão: A radiografia anteroposterior de tórax isolada não é capaz de definir com segurança a posição do cateter venoso umbilical. A ecocardiografia permite a visibilização direta da ponta do cateter em relação às estruturas vasculares e, sempre que possível, deve ser considerada para localização do cateter venoso umbilical.

Rol de los marcadores ecográficos secundarios de primer trimestre para la detección de trisomía 21 / Role of first trimester secondary ultrasound markers for trisomy 21 detection

OBJETIVO: Analizar los resultados de los marcadores ecográficos secundarios (hueso nasal, onda a del ductus venoso y regurgitación tricuspídea) y valorar su efectividad para la detección de trisomía 21 y su utilidad para la reducción del número de pruebas invasivas. MÉTODOS: Tras la realización del test combinado de primer trimestre a toda paciente con un riesgo entre 1/101-1/1000 se realizó la valoración de los marcadores secundarios. RESULTADOS: Desde Enero de 2014 a Mayo de 2015 se realizaron 2.660 test combinados del primer trimestre valorándose la edad materna, la traslucencia nucal y la PAPP-A y ßhCG, teniendo una sensibilidad del 90% y una tasa de falsos positivos del 3,2%. Hubo 10 fetos con trisomía 21. La sensibilidad de hueso nasal, ductus venoso y regurgitación tricuspídea fue del 22,2%, 50% y 50% y la especificidad del 99,8%, 96,9% y 98,8% respectivamente. La sensibilidad global del test contingente fue del 90%, con una reducción de la tasa de falsos positivos al 1,6%, lo que se reduciría de 171 a 148 el número de amniocentesis. CONCLUSIÓN: El test contingente es una buena herramienta para reducir la tasa de falsos positivos respecto al test combinado sin disminuir la tasa de detección y con ello reducir la tasa de pruebas invasivas.

AIMS: To analyze the results of the secondary sonographic markers (nasal bone, wave ductus venosus and tricuspid regurgitation) and evaluate its effectiveness for the detection of trisomy 21 and thus reduce the number of invasive tests. METHODS: After completing the first trimester combined test, all patients with a risk between 1/101-1/1000 were evaluated the secondary sonographic markers. RESULTS: From January 2014 to May 2015 2660 combined test being assessed maternal age, nuchal translucency and PAPP-A and ßhCG were performed, with a sensitivity of 90% and a false positive rate of 3.2%. 10 fetuses with trisomy 21 were observed. The sensitivity of nasal bone, ductus venosus and tricuspid regurgitation was 22.2%, 50% and 50% and specificity was 99.8%, 96.9% and 98.8% respectively. The overall sensitivity of contingent test was 90%, with a reduction in false positive rate to 1.6%, which would decrease the number of amniocentesis from 171 to 148. CONCLUSION: The contingent test is a good tool to reduce the rate of false positives with respect to the combined test without decreasing the detection rate and thereby reduce the rate of invasive testing.