Agenesis Of Ductus Venosus Research Articles

Agenesis of Ductus Venosus Detected at 13 Weeks of Gestation: HDlive Flow Features

Agenesis of Ductus Venosus Detected at 13 Weeks of Gestation: HDlive Flow Features

Agenesis of the ductus venosus and fetal growth restriction: Is there a relation? A tertiary care center experience and systematic review of the literature.

An update on the antenatal diagnosis of agenesis of ductus venosus (ADV) by differentiating the various possible types of shunts, focusing on the associated fetal anomalies, and predicting neonatal outcomes. This study reviewed the experience of two tertiary referral centers and literature. An unfavorable outcome was detected in preterm fetuses (p = 0.017), fetuses with a genetic anomaly (p = 0.046) or other associated malformations (p < 0.001). 71% of ADVs with other anomalies had an extrahepatic ADV (p = 0.002). 76% of fetuses with Fetal Growth Restriction (FGR) had an extrahepatic ADV (p = 0.025). ADV may negatively influence fetal growth in cases with extrahepatic vein drainage.

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

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. 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. 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.

Right ventricle hypertrophy in fetuses diagnosed with Noonan syndrome: Can ductus venosus agenesis represent a contributing cause?

Noonan syndrome (NS) is the most common genetic syndrome in fetuses with increased nuchal translucency (NT) and normal karyotype. NS patients present typical patterns of cardiac defects, such as pulmonary stenosis, polyvalvular dysplasia and hypertrophic cardiomyopathy. This study aims to evaluate onset and trend of cardiac disease in fetuses with molecular diagnosis of NS and to search for other cardiovascular sonographic markers of NS. We performed a fetal echocardiographic follow-up of pregnancies with increased NT in the first trimester. All the fetuses with normal Karyotype and Comparative Genomic Hybridizationarray underwent a targeted next-generation sequencing panel for RASopathies. Increased NT was the only finding up to the second trimester in half of the fetuses, while in the others ductus venosus agenesis was also observed. In all of them, during the late second trimester, a severe cardiopathy arouse.

Anomalous hepatic drainage and platypnea-orthodeoxia in cyanotic children.

The aetiology of cyanosis could be unclear in children, even for specialised paediatricians. Two cases were reported: first, a 6-year-old child with features of left isomerism and Fallot was fortuitously diagnosed with anomalous hepatic venous drainage before complete repair. Second, a newborn with an antenatal diagnosis of ductus venosus agenesis had an isolated intermittent right-to-left atrial shunt when upright, with favourable outcome, in contrast to the association with significant heart malformations including inferior caval vein interruption. Multimodality imaging and 3D printing helped to rule out extracardiac causes of persistent cyanosis and plan surgical repair.

Impact of the type of ductus venosus agenesis and the presence of associated anomalies on prognosis

Objective: The Ductus Venosus (DV) connects the umbilical vein to the inferior vena cava. With a portocaval pressure gradient, the well-oxygenated blood in the ductus venosus accelerates towards the left sidewall of the inferior vena cava, directing the blood preferentially towards cephalic and coronary circulation through the foramen ovale (1). DV serves as a shunt, expanding to protect the heart and brain in hypoxic conditions. Ductus Venosus Agenesis (DVA) is a rare congenital abnormality with a prevalence of 0.03-0.07%. The type of DVA, along with any additional anatomical or chromosomal anomalies in fetuses with DVA, significantly affects the postnatal prognosis. Some fetuses with DVA develop normally, while others may experience growth retardation, heart defects, or other complications. In this study, we aimed to evaluate the frequency of associated anomalies in DVA cases, examine the impact of each type of DVA (intrahepatic and extrahepatic venous drainage) on prognosis, and contribute to the literature on this rare disease. Materials and Methods: We conducted a retrospective study of all cases diagnosed prenatally with DVA at a tertiary center between 2016-2019. Our study reviewed obstetric data, associated anomalies, other systemic anomalies, type of DVA, chromosomal or genetic anomalies, and perinatal and postnatal outcomes. Postnatal infants were followed up to the 6th month. Results: We identified 16 cases with ductus venosus agenesis. The type of DVA (intrahepatic-extrahepatic shunt), presence of chromosomal anomalies, accompanying ultrasonographic findings, and perinatal outcomes were recorded. Generally, in 7 out of the 16 cases, the umbilical vein drained into the portal system (44% - intrahepatic), and in 9 cases, it drained into the systemic venous system. Conclusion: DVA is a rare congenital abnormality with potentially significant implications for affected fetuses and infants. Early diagnosis, careful monitoring, and appropriate management strategies are crucial to optimize outcomes for these patients. There's a need for future research to better understand the underlying etiology and pathophysiology of DVA and to develop more effective treatment options for affected individuals.

The Incidence of the Agenesis of Fetal Ductus Venosus at the 11-13 Weeks' Ultrasound Examination.

The objective is to examine the incidence of agenesis offetal ductus venosus (DV) at the routine ultrasound examination at 11-13 weeks. This is a retrospective study on women presenting for screening for chromosomal abnormalities. The fetal DV was routinely examined by color Doppler in the sagittal view. Out of 8,304 fetuses examined, there were 13 cases of DV agenesis (0.15%). The umbilical vein drainage was intra-hepatic in two-thirds of the cases, and all resulted in normal live births. In the remaining one-third of cases, the umbilical vein drained to the inferior vena cava and all had a poor outcome because of aneuploidies, cardiac defects, and Noonan syndrome. Fetal DV agenesis occurs in about one in 650 fetuses and the majority of cases have a benign course and a favorable outcome. Failure to identify the DV should prompt a detailed ultrasound examination, identification of the drainage site of the umbilical vein, and genetic testing.

Ductus Venosus Agenesis and Portal System Anomalies-Association and Outcome.

Simple SummaryWe have limited information regarding the association and implications of portal venous system (PVS) anomalies in agenesis of ductus venosus (ADV) cases. Few cases of PVS malformations have been reported during fetal life apart from ADV. To the best of our knowledge, this is the first study designed to evaluate the prenatal incidence of ADV and PVS anomalies in the second- and third-trimester anomaly scan experience of a tertiary unit. PVS anomalies were found more frequently than previously reported. We found PVS anomalies in one-third of the ADV cases, while ADV was present in 85.7% of the PVS anomalies. Our data suggest that PVS development is ductus venosus-dependent. PVS anomalies worsened the outcome of ADV cases in our study, and the vast majority of ADV cases that were associated with a normal PVS presented a favorable outcome. The presence of additional fetal anomalies is the best predictor for the outcome of DVA cases. However, an easier evaluation of PVS represents a powerful predictor for ADV cases and addresses the long-term prognosis.To evaluate the prenatal diagnosis of agenesis of ductus venosus (ADV) and portal venous system (PVS) anomalies and describe the outcome of these cases, either isolated or associated. We evaluated the intrahepatic vascular system regarding the presence of normal umbilical drainage and PVS characteristics in the second and third trimester of pregnancy. The associated anomalies and umbilical venous drainage were noted. Follow-up was performed at six months follow-up. Ultrasonography was performed in 3517 cases. A total of 19 cases were prenatally diagnosed: 18 ADV cases, seven abnormal PVS cases, and six associations of the two anomalies. We noted an incidence of 5.1‰ and 1.9‰ for ADV and PVS anomalies, respectively. Out of the 18 ADV cases, 27.7% were isolated. Five cases (26.3%) presented genetic anomalies. PVS anomalies were found in 33.3% of the ADV cases. ADV was present in 85.7% of the PVS anomalies. DV and PVS abnormalities were found with a higher than reported frequency. Normal DV is involved in the normal development of the PVS. Additional fetal anomalies are the best predictor for the outcome of ADV cases. Evaluation of PVS represents a powerful predictor for ADV cases and addresses the long-term prognosis.

Prenatal Diagnosis and Outcome of Umbilical-Portal-Systemic Venous Shunts: Experience of a Tertiary Center and Proposal for a New Complex Type.

Aims: To share our experience in the prenatal diagnosis of umbilical–portal–systemic venous shunts (UPSVS) and to study the prognostic factors for proper prenatal and perinatal management. Material and Methods: A five-year prospective study regarding the detection of UPSVS was conducted in two referral centers, Medgin Ginecho Clinic and the Prenatal Diagnostic Unit of the tertiary center, University Emergency County Hospital Craiova, Romania. We included in the analysis a series of agenesis of ductus venosus (ADV) cases previously reported by our center. We analyzed the incidence of the UPSVS types, their associations, and outcome predictors. Results: UPSVS were diagnosed in all 16 cases that were presented to our center at the time of first trimester anomaly scan, except one (94.12%). We diagnosed: 19 type I (61.2%), 4 type II (12.9%) and 5 type IIIa (16.1%) UPSVS. In three cases (9.6%) we noted multiple shunts, which we referred to as type IV (a new UPSVS type). Type IIIa-associated fetal growth restriction (FGR) was found in 60% of cases. Major anomalies worsened the outcome. Of the UPVSS cases, 57.1% were associated with PVS anomalies. Genetic anomalies were present in 40% of the tested cases. Conclusions: The incidence of UPSVS in our study was 0.2%. Early detection is feasible. The postnatal outcome mainly depends on the presence of structural, genetic and PVS anomalies. FGR may be associated. The new category presented a poor outcome secondary to poor hemodynamic and major associated anomalies.

Prenatal diagnosis of abnormality of the umbilical portal DV complex: difficulty in universal classification due to various alternative routes in hepatic circulation for placental drainage

Objective To review our experience with fetal abnormality of the umbilical-portal-DV complex and to discuss the new classification system for umbilical portal systemic venous shunts (UPSVS) according to our cases. Methods This study was a retrospective analysis of fetuses with a prenatal diagnosis of abnormality of the umbilical-portal-DV complex. The integrity of the fetal umbilical-portal ductus venosus complex and the hepatic venous system were evaluated using two-dimensional color Doppler sonography. The origin of the shunt, the location of the drainage, and the presence or absence of intrahepatic portal venous system and DV were noted. Results 35 cases of abnormality of the umbilical-portal-DV complex were identified. Agenesis of ductus venous was detected in 33 of them. Based on the abnormality of the umbilical-portal-DV complex, we divided the cases into five groups. Group 1, ductus venosus agenesis with normal hepatic venous anatomy (n = 11); Group 2 downward displacement of the umbilical-portal-DV complex (n = 13); Group 3, umbilical-systemic shunt (n = 5); Group 4, intrahepatic portosystemic shunt (n = 4), Group 5, hepatic arteriovenous malformation (n = 2). Three different intrahepatic portosystemic shunt and one different downward displacement of the umbilical-portal-DV complex cases were detected. Conclusions Disruption of the normal anatomy of the umbilical-portal-DV complex causes various alternative pathway of the placental drainage. This illustrates highlights the challenge of creating a universal classification.

OC05.05: First trimester diagnosis of ductus venosus agenesis: a case series from a prenatal US centre in Colombia

OC05.05: First trimester diagnosis of ductus venosus agenesis: a case series from a prenatal US centre in Colombia

VP20.18: Incidence and outcomes of fetuses with severe hydrothorax and ductus venosus agenesis treated with thoracoamniotic shunt

VP20.18: Incidence and outcomes of fetuses with severe hydrothorax and ductus venosus agenesis treated with thoracoamniotic shunt

Ductus Venosus Agenesis: A Case Report

A 29- year-old primigravida mother with a history of 8 years of infertility and without any history of medical illness spontaneously conceived and delivered a male child whose anomaly scan done at 18 weeks of gestational age was suggestive of a ductus venosus agenesis with intrahepatic shunting of umbilical vein and a tiny echogenic foci in the heart. Further evaluation revealed a negative karyotype of Down’s syndrome, and fluorescence in situ hybridization screening for aneuploidy was also negative, but the mother’s Toxoplasmosis Rubella Cytomegalovirus Herpes Simplex HIV (TORCH) titres were strongly positive for cytomegalovirus IgG. Detailed study did not reveal any morphological or obvious cardiac anomalies or any chromosomal abnormalities; postnatally there were no signs of neonatal hyperbilirubinemia, respiratory distress, or any other signs suggestive of intrauterine infections in the form of hepatosplenomegaly, bleeding manifestations, and jaundice. Hearing and ophthalmic examination were normal. Postnatal echocardiogram revealed a normal functioning heart without any abnormalities. Isolated agenesis of ductus venosus occurs rarely wherein extrahepatic shunting has a bad prognosis because of higher chances of congestive heart failure as the umbilical vein directly drains into the right atrium as compared to the intrahepatic shunting which is reported to have a favorable outcome as seen in our case.

Agenesis of Ductus Venosus: A Case Series

Ductus venosus agenesis is a rare anomaly which is significantly associated with cardiac, extracardiac and chromosomal anomalies. The prognosis depends on its association with other congenital abnormalities independent of the type of shunt. The aim of this study was to evaluate the ductus venosus in 2nd trimester scans and to evaluate associated congenital malformations associated with agenesis of the ductus venosus and its feto-neonatal outcome. We performed a retrospective study for a 5 year period from November 2015 to November 2019. Of the 8 cases seen, 2 (25%) had an intrahepatic shunt and 6 (75%) presented with extrahepatic umbilical venous drainage. Agenesis of ductus venosus was associated in 5 cases (62%) with cardiac abnormalities, 6 cases (75%) with extracardiac anomalies and 3 (37%) cases with chromosomal abnormality. Our study showed poorer outcome in fetuses associated with both cardiac and extracardiac anomalies accounting for 75% of all cases whereas intrahepatic type with mild cardiomegaly had favourable pregnancy outcome. Agenesis of ductus venosus is significantly associated with fetal cardiac and extracardiac abnormalities independent of the type of umbilical venous drainage. Extrahepatic umbilical venous drainage even if isolated has the significant risk of congestive heart failure, hydrops and/or intrahepatic portal venous system anomalies. The intrahepatic type has better prognosis if associated with no or minor abnormality.

Fetus with agenesis of ductus venosus complicated with aortic valve dysplasia subsequently diagnosed with sinus of valsalva aneurysm after birth

Fetus with agenesis of ductus venosus complicated with aortic valve dysplasia subsequently diagnosed with sinus of valsalva aneurysm after birth

Ductus venosus agenesis and fetal malformations: what can we expect? - a systematic review of the literature.

Background The ductus venosus agenesis (DVA) is a rare condition with a variable prognosis that relies partly on the presence of associated conditions. The purpose of our study was to analyze the literature regarding the post-natal outcome of fetuses with DVA associated with fetal malformations, in order to discuss the best management options for couples. Methods We performed a systematic review of the literature of MEDLINE and SCOPUS electronic databases in a 25-year period from 1992 to September 2017. Methods We found 340 cases of DVA associated with fetal abnormalities. The most common chromosomal abnormalities were: monosomy X (12/48, 25%), trisomy 21 (11/48, 22.9%) and trisomy 18 (6/48, 12.5%). From the 340 cases with DVA, in 31 cases the umbilical venous shunt type was not reported. Of the fetuses, 60.8% (188/309) had an extrahepatic umbilical venous drainage while 39.2% (121/309) presented an intrahepatic connection. The DVA was associated in 71 cases (23.0%) with cardiac abnormalities, in 82 cases (26.5%) with extracardiac abnormalities and in 85 cases (27.5%) with both cardiac and extracardiac abnormalities. Conclusion DVA associated with both cardiac and extracardiac malformations may confer a poorer fetal outcome, a clinically relevant fact that should clarify what can be expected from this entity and help prenatal counseling.

Prenatal Diagnosis of Agenesis of Ductus Venosus: A Retrospective Study of Anatomic Variants, Associated Anomalies and Impact on Postnatal Outcome.

To assess the anatomic variants, associated anomalies and postnatal outcome of fetuses with a prenatally diagnosed agenesis of ductus venosus (ADV). Retrospective study of 119 cases with agenesis of ductus venosus diagnosed by prenatal ultrasound in two tertiary referral centers from 2006 to 2014. The type and location of the umbilical venous drainage site was noted. Charts were reviewed for associated structural or chromosomal anomalies, pregnancy outcome and postnatal course. In 24 cases (20.2 %) ADV was an isolated finding, while 95 cases (79.8 %) had associated anomalies. We identified 84 cases (70.6 %) with intrahepatic and 35 cases (29.4 %) with extrahepatic drainage of the umbilical vein. 58.8 % of neonates were alive at follow-up. There was no statistical association between drainage site and associated anomalies or outcome. Postnatal outcome was determined by the presence and severity of associated anomalies. There was no adverse outcome in the isolated group related to ADV. Overall, there were 6 persistent portosystemic shunts, 3 of them with a spontaneous closure, and one total agenesis of the portal venous system with lethal outcome. Postnatal outcome in cases with ADV mainly depends on the presence of associated anomalies. In isolated cases the prognosis is generally good, but neonates with a prenatally diagnosed portosystemic shunt should be followed until its occlusion. Portal venous system agenesis is rare but should be ruled out on prenatal ultrasound.

Molecular cytogenetic characterization of Jacobsen syndrome (11q23.3-q25 deletion) in a fetus associated with double outlet right ventricle, hypoplastic left heart syndrome and ductus venosus agenesis on prenatal ultrasound

ObjectiveWe present molecular cytogenetic characterization of Jacobsen syndrome (11q23.3-q25 deletion) in a fetus associated with double outlet right ventricle (DORV), hypoplastic left heart syndrome (HLHS), and ductus venosus (DV) agenesis on prenatal ultrasound. Case ReportA 26-year-old woman underwent prenatal ultrasound examination at 22 weeks of gestation, which revealed intrauterine growth restriction, short femurs, DORV, HLHS, DV agenesis, single umbilical artery, and curly fourth toe of the left foot. The parents elected to terminate the pregnancy, and a 500-g female fetus was delivered at 23 weeks of gestation with facial dysmorphism, bilateral camptodactyly, and hammertoes. The parental karyotypes were normal. Cytogenetic analysis of the cord blood and umbilical cord revealed a karyotype of 46,XX,del(11)(q23). Array comparative genomic hybridization analysis of the DNA extracted from the umbilical cord revealed a 14.38-Mb deletion of 11q23.3-q25 encompassing BSX, ETS1, FLI1, and ARHGAP32. Metaphase fluorescence in situ hybridization analysis using the probes RP11-209L12 (11q25) and RP11-25M7 (11q11) showed a distal 11q deletion in the aberrant chromosome 11 in 17/17 cells examined. ConclusionPrenatal diagnosis of DORV, HLHS, DV agenesis associated with intrauterine growth restriction and short limbs should include a differential diagnosis of Jacobsen syndrome.

EP11.02: Perinatal outcome of the agenesis of ductus venosus and associated findings

EP11.02: Perinatal outcome of the agenesis of ductus venosus and associated findings

Predicting outcome in 259 fetuses with agenesis of ductus venosus – a multicenter experience and systematic review of the literature

Objective: To evaluate prenatal predictors of postnatal survival in fetuses with agenesis of ductus venosus (ADV).Methods: This retrospective study reviewed our experience and the literature between 1991 and 2015. Prenatal findings were evaluated and perinatal morbidity and mortality was documented.Results: A total of 259 cases were included in the present analysis from our centers and 49 published studies (15 patients from our retrospective cohort review and 244 from literature review). The intrahepatic and extrahepatic shunts were present in 32.0% (73/226) and 67.7% (153/226), respectively. Cardiomegaly (n = 64/259, 24.7%), hydrops (n = 31/259, 12.0%) and amniotic fluid abnormalities (n = 22/259, 8.5%) were among the most frequent initial ultrasound findings. One hundred and forty-seven fetuses (56.8%) had ADV without structural anomalies while 112 (43.2%) had associated anomalies (cardiac anomalies (n = 66), extra-cardiac anomalies (n = 19) and both cardiac and extra-cardiac anomalies (n = 27)). The mean gestational age (GA) at ultrasound diagnosis was 22.9 ± 6.9 weeks while the mean GA at delivery was 34 ± 7.5 weeks. The overall neonatal survival was 57.1% (n = 148/259). The following factors were associated with survival: advanced maternal age, earlier GA at diagnosis, prematurity, increased nuchal translucency, pericardial effusion, associated cardiac defects (especially AVSD), chromosomal abnormalities, hydrops, hygroma and limb anomalies.Conclusion: Fetal hydrops, the presence of associated congenital anomalies and premature delivery are associated with poor prognosis in fetuses with ADV.