Ultrasonographic classification of 26 cases of fetal umbilical-portal-systemic venous shunts and the correlations with fetal chromosomal abnormalities.

OBJECTIVE: To investigate the ultrasonographic classification of fetal umbilical-portal-systemic venous shunts (UPSVS) and the correlations with fetal chromosomal abnormalities. METHODS: We retrospectively analyzed the ultrasound characteristics and the corresponding chromosomal abnormalities of 26 cases of fetal UPSVS prenatally diagnosed. RESULTS: A total of 26 fetuses diagnosed as UPSVS were included, including four cases of type I UPSVS, ten of type II, three of type IIIA, and nine of type IIIB. Four cases of type I were all complicated by fetal heart enlargement and heart insufficiency, of which one case had multiple malformations, and all four cases terminated pregnancies. Six of ten cases of type II terminated pregnancies, including four of Down's syndrome, one of twin reversed arterial perfusion sequence, one of fetal edema but with normal copy number variation (CNV) by chorionic villus sampling. The other four of ten cases were isolated type II with normal chromosomes, which were delivered at full term and were normal in growth and development when followed up 34 months after birth. Three cases of type IIIA all terminated pregnancies, of which one had multiple malformations, one had right multicystic dysplastic kidney, and one had fetal heart enlargement and heart failure. Among nine of type IIIB, seven with chromosomal abnormalities and/ or complicated malformations terminated pregnancies, and two with isolated type IIIB and normal chromosomes were delivered at full term, and were normal in growth and development (one was followed up to 33 months after birth and the other 20 months after birth). CONCLUSION: Fetal UPSVS can be clearly diagnosed and typed by prenatal ultrasonography. Fetal prognosis is determined by the types of UPSVS and complicated malformations and/ or chromosomal abnormalities. The probability of fetal chromosomal abnormalities in UPSVS fetuses is related to the ultrasonographic classification.

Correlation of Prenatal and Postnatal Diagnosis in Umbilical-Portal-Systemic Venous Shunts.

INTRODUCTION: Umbilical-portal-systemic venous shunts (UPSVS) are rare anomalies in the development of the fetal venous system. There are several postnatal and prenatal classifications of hepatic venous anomalies but the link between them is missing. We aimed to review the prenatal to postnatal diagnosis correlation in UPSVS at our center. METHODS: It is a retrospective study of patients diagnosed with UPSVS between 2019 and 2021 at our institution. Demographic, obstetric, genetic, and neonatal data were reviewed with special focus on prenatal and postnatal ultrasounds. RESULTS: A total of seven patients were diagnosed with UPSVS at a median of 24 (20-34) weeks of gestational age. All patients were male and 62% were Caucasian. None of the patients had chromosomopathies or cardiac anomalies. One patient had renal ectopia, another one had a single umbilical artery, and a third one suffered from intrauterine growth retardation. An umbilico-systemic shunt (USS) was found in two patients and a ductus venosus-systemic shunt (DVSS) in the rest. Patients with USS were diagnosed postnatally with intrahepatic portosystemic shunts. One of the DVSS patients was transferred to another hospital and the other four had normal postnatal cardiac ultrasounds, with normal abdominal ultrasounds in two patients and lack of postnatally abdominal control in the other two. All babies were found to be doing well at a median follow-up of 1 month (0-24). CONCLUSION: There is a knowledge gap in the natural history of UPSVS between fetal and neonatal life. Building bridges between prenatal and postnatal research is mandatory in order to understand these rare anomalies.

Large intra-abdominal umbilical vein varix with absent ductus venosus: The undeniable etiology of fetal heart failure despite associated congenital heart disease.

Fetal intra-abdominal umbilical vein varix (IUVV) is one of the rare anomalies of the umbilical vessels that simulate a cystic structure but with a vascular nature. IUVV usually drains into IVC through ductus venosus (DV), with evidence of an increase in the cardiac preload in most cases. In the current report, we present a fetus with congenital heart disease; however, the association of large IUVV with DV agenesis and direct drainage into the heart resulted in a high output fetal heart failure.

Cases of Ultrasound-Diagnosed Right Aortic Arch with Right Arterial Duct and the Treatment.

This paper aims to discuss the value of ultrasound to diagnose right aortic arch with right arterial duct. A retrospective analysis of fetal echocardiography characteristics of 10 fetuses who were diagnosed as right aortic arch with right arterial duct from December 2016 to March 2021 is made, and focus is put on the relationship between the aortic arch and arterial duct, and the position of aortic arch, arterial duct arch and trachea on the three vessels and trachea view (3VT). As a result, all 10 cases with right aortic arch and right arterial duct do not show aberrant left subclavian artery, and aortic arch with arterial duct are still connected as "V-shaped", and do not get vascular rings. In conclusion, 3VT can simply and clearly detect the right aortic arch, and the key to diagnosing the right aortic arch and right arterial duct is thorough inspection of the aortic arch, arterial duct, and trachea in their respective positions.

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.

Prenatal diagnosis of the persistent right umbilical vein, incidence and clinical significance.

Prenatal diagnosis of persistent right umbilical vein (PRUV) is important due to accompanying malformations. Pregnant women diagnosed with PRUV were analysed retrospectively. Intrahepatic PRUV was seen in 12 of 10.743 foetuses and its incidence was found to be 0.11%. The gestational week at the time of diagnosis was between 20 and 35 weeks. Six of the cases had additional abnormal sonographic findings (50%) and six cases (50%) were isolated. Major congenital malformations were seen in four (33.3%) foetuses, 75% of which were congenital heart disease (CHD). Genitourinary system anomaly accompanied in two cases (16.6%). Invasive diagnostic tests were applied to three pregnant women and the results were reported as normal karyotype. In PRUV cases, a detailed sonographic examination should be performed, especially the cardiovascular system. Although PRUV cases do not appear to be associated with chromosomal abnormalities, invasive diagnostic tests should be recommended in the presence of concomitant anomalies.Impact statementWhat is already known on this subject? The persistent right umbilical vein (PRUV) is a pathological vascular anomaly, in which the left umbilical vein regresses and the right umbilical vein remains open. PRUV can occur in an isolated form that represents its normal variant or be associated with other major or minor anomalies.What do the results of this study add? Additional abnormal sonographic findings were accompanied in 50% of PRUV, major anomaly was detected in 33.3% of them and cardiovascular abnormalities constituted 75% of foetuses with major anomalies.What are the implications of these findings for clinical practice and/or further research? The presence of concomitant anomalies in PRUV cases is not rare and detailed anatomy screening should be done. The most common accompanying abnormality is seen in the cardiovascular system, so foetuses with PRUV should be evaluated by foetal echocardiography.

Characteristics and outcome in prenatally diagnosed vascular aorta-umbilical vein malformation.

Congenital arteriovenous fistulas involving the abdominal aorta are very rare. We report an unusual presentation involving the umbilical vein and characterized by the occurrence of a postnatal thrombosis and a favorable outcome.Synopsis: Fetal abdominal arteriovenous fistulas are rare involve branches from the aorta and can lead to umbilical vein thrombosis.

A large-scale investigation by ultrasound of fetal hepatic venous system variants in China.

AIM: To investigate the types, associated anomalies and postnatal outcomes of fetal hepatic venous system (HVS) variants by ultrasound in China. MATERIAL AND METHODS: A large-scale and prospective investigation of HVS variants for low-risk singleton pregnant women was performed in three academic tertiary referral care centers in China. Ultrasound imaging wasused for the identification and follow-up of anatomical variants. Follow-up was conducted once every four weeks prenatally and every two months postnatally, mainly concerned on the adverse events that may appear. RESULTS: There were 20848 cases with anatomical variants of fetal HVS identified from 46179 candidates during the study period. Following the anatomical position of variants occurring, four main divisions were present: main portal vein variants (17.9%), intrahepatic portal vein variants (21.30%), intrahepatic persistent right umbilical vein (0.27%) and hepatic vein variants (5.67%). In the fetal period, the pregnancy of all cases was normally continued, except that the pregnancy of two cases, which were associated with multiple anomalies and were terminated by their parents. After birth, approximately 99.47% of the cases with isolated variants orbeing associated no clinic significant anomalies were normally alive. Approximately 0.50% cases were associated with simple ventricular septum defect or tetralogy of Fallot and further treatment was needed. CONCLUSION: The anatomical variants of fetal HVS may appear as numerical, morphological or positional variants of MPV, intrahepatic PV branches, intrahepatic PRUV and HVs. The majority of cases are isolated or their associated anomalies are not clinically significant and have normal lifeafter birth.

Case report of neonatal ductus venosus atresia.

INTRODUCTION: In the fetus, the ductus venosus (DV) connects the umbilical vein and the portal veins to the inferior vena cava in order to bypass the high-resistance hepatic vascular network. Via the Eustachian valve, the DV directs umbilical venous blood with the highest oxygen content preferentially towards the myocardium and the brain. An absence (agenesis) or a secondary obliteration of an initially normally developed DV (atresia) is associated with various shunt types and may lead to severe hydrops. CASE REPORT: A routine check-up of a healthy 34-year-old woman at 27 5/7 wks GA revealed a severe hydrops fetalis with pleural effusions and ascites. After birth at 28 0/7 wks GA, the bilateral pleural effusions needed drainage via thoracic drains. Arterial hypotension was initially treated with volume replacement and dopamine, later on adrenaline and hydrocortisone were added. The initial echocardiography showed normal anatomic structures and normal bi-ventricular function. Despite maximal intensive care treatment, a global respiratory and cardiovascular insufficiency developed. The girl died on fourth day of life. At autopsy, a secondary atresia of the DV was identified, and moreover a pathogenic de novo heterozygous mutation in the KRAS gene was found in the chorion biopsy probe. DISCUSSION: For all cases of non-haemolytic hydrops fetalis, a prenatal or postnatal sonography with Doppler examination of the venous system and of the heart should be performed. Furthermore, testing for RASopathies should be recommended especially in presence of increased nuchal translucency thickness and polyhydramnios.

Prenatal features, associated co-morbidities and clinical course of agenesis of the ductus venosus in the current era.

OBJECTIVES: Agenesis of the ductus venosus (ADV) has been associated with additional anomalies in up to 83% of cases. We sought to investigate characteristics, co-morbidities and outcomes of ADV in the current era. We hypothesized that rates of cardiac and non-cardiac diagnoses and survival would be higher, due to advances in genetic testing, prenatal diagnosis and surveillance. METHODS: A retrospective series of cases diagnosed at our institution from 2007 to 2018 were identified by searching our database. Cardiac and obstetric charts were reviewed for cardiac and extra-cardiac anomalies, genetic results and outcomes. RESULTS: Fourteen cases were diagnosed at a mean gestational age of 23.9 weeks (range 13-33). All had associated genetic, cardiac or extra-cardiac anomalies. Eight (57%) had cardiac anomalies and one other developed cardiomyopathy by 6 months. Extra-cardiac anomalies were present in 93% (13/14) and genetic diagnoses made in 75% (6/8) of those tested. Cardiac output Z-scores were >2 in 60% (6/10) prior to delivery. Two had hydrops, there was one intra-uterine death, 13 live-births and two neonatal deaths. CONCLUSION: Our cohort had more associated diagnoses and a lower mortality than previously reported. In our experience, high output occurs frequently, however with a relatively low risk of hydrops and intrauterine death.

Ultrasonic detection of fetal persistent right umbilical vein and incidence and significance of concomitant anomalies.

BACKGROUND: Persistent right umbilical vein (PRUV) is characterized by atresia of the left umbilical vein while the right umbilical vein remains open. Given the limited sample size of most studies, the incidence of PRUV and the status of concomitant anomalies may not be fully reflected. Thus, we studied the incidence of fetal PRUV and its concomitant anomalies on a larger scale using our hospital database. This study hoped to address the following questions: Does PRUV increase the risk of fetal anomalies? If the PRUV fetus also has a single umbilical artery (SUA), does the risk of fetal anomaly increase further? What is the positive predictive value of PRUV for fetal anomalies? METHODS: This retrospective study analyzed 756 cases of fetal PRUV at our hospital from January 2007 to April 2017. Prenatal ultrasound and color Doppler images were assessed. All PRUV fetuses underwent echocardiography and detailed ultrasound examinations of other systems. Newborn status was obtained via the database or by telephone follow-up. RESULTS: A total of 435,428 pregnant women underwent prenatal ultrasonography at 16-40 weeks, the incidence of fetal PRUV was 0.17%, and 102 fetuses (13.5%) developed other anomalies. Two complicated cases had trisomy 18. PRUV was associated with a higher incidence of fetal anomalies. When fetal anomalies were classified by body systems, PRUV was associated with a higher incidence of cardiovascular, nervous, urinary, skeletal, digestive, and respiratory system anomalies. The positive predictive values of a PRUV for any fetal anomalies and cardiovascular anomalies were 13.5% (95%CI, 11.2-16.2%) and 5.4% (95%CI, 4.0-7.3%), respectively. SUA further increases the risk of PRUV fetuses with other anomalies and cardiovascular anomalies. CONCLUSIONS: Detailed prenatal ultrasonography and echocardiography should be performed in fetuses with PRUV to rule out anomalies in other systems. When the PRUV is combined with SUA, echocardiography is particularly important. Fetuses with complicated PRUV should undergo chromosomal examination. Although isolated fetal PRUV prognosis is good, complicated PRUV prognosis depends on the type and severity of the concomitant anomalies.

Correlations among Congenital Hepatic Shunt, Absent Ductus Venosus, and Umbilical Vein Shunt Revealed by Prenatal Ultrasound.

OBJECTIVES: Congenital disruptions of the hepatic vasculature such as hepatic vascular shunt and absence of ductus venosus (ADV) are rare and often asymptomatic. Moreover, hepatic vasculature abnormality, ADV, and umbilical shunt are easily missed during ultrasound screening due to insufficient scope of examination. In our study, we analyzed the associations among congenital hepatic shunt, ADV, and umbilical vein (UV) shunt by prenatal ultrasound screening. METHODS: This was a retrospective study of 9 cases of congenital hepatic vascular shunt and 14 cases of isolated ADV identified by prenatal ultrasound screening at Chengdu Women and Children's Center Hospital from 2014 to 2018. The review parameters included ultrasound findings of the fetal hepatic vessels, fetal heart, UV, other malformations, complications, and fetal prognosis. RESULTS: The 9 cases of hepatic shunt included 6 cases of isolated portosystemic shunt, 2 mixed cases of vascular shunt with portosystemic shunt, and 1 case of intrahepatic arteriovenous fistula. Among the 8 total cases of portosystemic shunt, 5 were accompanied by ADV (62.5%). Of the 5 cases of congenital hepatic shunt with ADV, 3 were accompanied by umbilical shunt (60%). Among the 9 cases of hepatic vascular shunt, 6 were accompanied by dilated inferior vena cava and cardiomegaly (66.7%). Of the 19 total ADV cases identified, there were 14 cases without hepatic shunt, 5 with hepatic shunt, and 17 with umbilical shunt (89.4%). Among the 14 ADV cases without hepatic shunt, there were 5 cases with congenital heart defect (35.7%) and 4 with cardiomegaly (28.6%). CONCLUSIONS: Portosystemic shunt, ADV, and umbilical shunt are closely associated. Appreciation of these associations can improve prenatal ultrasound screening for a timely prognosis and initiation of appropriate treatment.

Diaphragmatic Hernia Associated With Absent Ductus Venosus and Anomalous Connection of an Obliterated Umbilical Vein to the Coronary Sinus.

Umbilical vein anomalies are a rare congenital defect, which have been associated with absent ductus venosus, with few cases also involving a congenital diaphragmatic hernia. We describe a case of postnatal development of an anterior diaphragmatic hernia of Morgagni in a four-year-old patient diagnosed prenatally with mesocardia, absent ductus venosus with a large umbilical vein, a large secundum atrial septal defect, and patent ductus arteriosus.