Persistent Right Umbilical Vein Research Articles

Prenatal phenotype features and genetic etiology of the Williams-Beuren syndrome and literature review.

To share our experience on prenatal diagnosis of Williams-Beuren syndrome(WBS) and to improve the awareness, diagnosis, and intrauterine monitoring of the fetuses of this disease. The study retrospectively evaluated 14 cases of WBS diagnosed prenatally by single nucleotide polymorphism array (SNP-array). Clinical data from these cases were systematically reviewed, including maternal demographics, indications for invasive prenatal diagnosis, ultrasound findings, SNP-array results, trio-medical exome sequencing (Trio-MES) results, QF-PCR results, pregnancy outcomes and follow-ups. A total of 14 fetuses were diagnosed with WBS and their prenatal phenotypes were assessed retrospectively. In our case series, the most common ultrasound features were intrauterine growth retardation (IUGR), congenital cardiovascular defects, abnormal fetal placental doppler indices, thickened nuchal translucency(NT) and polyhydramnios. Other less common ultrasound features include fetal hydrops, hydroderma, bilateral pleural effusion, subependymal cysts, etc. Parental chromosome analysis was performed in seven pairs of parents, and all the deletions on chromosome 7q11.23 were de novo. Prenatal ultrasound features of WBS cases are highly variable, with IUGR, cardiovascular abnormalities and abnormal fetal placental doppler indices, being the most common intrauterine phenotypes. Our case series expand the intrauterine phenotypes of WBS, including cardiovascular abnormalities right aortic arch(RAA) combined with persistent right umbilical vein(PRUV) and elevated the ratio of end-systolic peak flow velocity to end-diastonic peak flow velocity(S/D). In the meantime, with the decrease in the cost of the next-generation sequencing, the method may become widely used in prenatal diagnosis in the near future.

420 Three-dimensional color power imaging in prenatal diagnosis of abnormal umbilical vessels: Sua/pruv. demographic and perinatal outcome data

Introduction: In early embryo development, there are 4 umbilical vessels. Then the right vein regresses and the cord contains two arteries and the left vein. A single umbilical artery (SUA) is the most common defect. It may be accompanied by other malformations and intrauterine growth retardation (IUGR). The anomalies of the umbilical vessels may also involve abnormal insertion, course, and additional vessels. In Persistent Right Umbilical Vein (PRUV) the left vein regresses and the right persists open.

Placental Changes in Perinatal DeathAn Observational Study from a Tertiary Care Centre in North Karnataka

Introduction: Placenta is poetically described as a diary which bears the events of intrauterine life; hence examining them, especially in perinatal death can provide valuable information regarding the cause of death and sometimes gives an idea about recurrence of such events. Aim: To describe the various placental lesions in perinatal death and compare them with equal number of normal placentae. Materials and Methods: This prospective, comparative, crosssectional study was conducted in tertiary care centre, Karnataka Institute of Medical Sciences, Hubballi, Karnataka, India. All placentae, irrespective of the gestational age, received in the Department of Pathology, from October 1st 2017 to March 31st 2019 were collected after taking an informed consent. A total of 539 cases were received in this time frame, of which 121 (22.45%) were dead and included in the study and were compared with 121 normal placentae (alive), without any maternal co-morbidities. The placentae were grossed and assessed according to Amsterdam guidelines. The significance of the difference observed was established by Chi-square test using Statistical Package for Social Sciences software (SPSS) version 21.0. Results: Of these 121 cases, 89 (73.5%) cases had placental changes, whereas 32 (26.5%) cases were devoid of placental changes. Placental infarct and increased syncytial knots were seen contributing maximum to foetal death in 31 (25.6%) cases followed by chorioamnionitis. Rare cases like Twin Reversed Arterial Perfusion (TRAP) syndrome, Persistent Right Umbilical Vein (PRUV), maternal floor infarct were also reported. Conclusion: Despite many antenatal imaging advances, placental examination still remains valuable in diagnosing cause of death and growth restriction in the foetus especially recurrent causes, favouring clinical intervention in those cases.

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 statement What 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.

Пренатальная диагностика персистирующей правой пупочной вены

Objective. To determine the incidence of persistent right umbilical vein (PRUV), as well as to study the prognostic value of as a marker of fetal developmental anomalies and neonatal outcomes. Patients and methods. 12,945 pregnant women whose gestation period was 18–41 weeks were examined. Ultrasound scanning was performed using a 3–5 MHz probe. A detailed fetal anatomy assessment was carried out, PRUV was diagnosed on the transverse scan of the fetal abdominal cavity. Results. 23 fetuses with PRUV were revealed: in 22 fetuses – an intrahepatic PRUV as a single anomaly was found, in 1 fetus – an extrahepatic PRUV (frequency 1:562). In all cases of intrahepatic PRUV, associated anomalies of fetal development were not revealed, pregnancy proceeded without complications with a favorable postnatal outcome. In one case of extrahepatic PRUV, cardiomegaly and hyper-echogenic bowel were diagnosed. Conclusion. The presence of PRUV in fetus is a marker of developmental anomalies and it warns a doctor about possible complications. Pregnancy, complicated by PRUV, requires a detailed dynamic observation, as in 30% of cases, there is a fetal growth retardation. The results of our study indicate that PRUV, when it is the only anomaly, has a favorable outcome, but based on the data of other authors, the fetus should be more carefully examined for other congenital malformations. Key words: persistent right umbilical vein, prenatal diagnosis, ultrasound diagnosis

Persistent right umbilical vein: its incidence and clinical importance

Objective To investigate the incidence and concomitant findings of persistent right umbilical vein (PRUV). Methods The study was conducted by retrospective review of the data of 1856 patients who admitted to the Clinic of Obstetrics and Gynecology of Fırat University between December 2018 and December 2019 for the gestational examination between 14 and 28 weeks of gestation. The obstetric characteristics of the patients such as age, number of pregnancy, abortion, parity and body mass index were recorded. The diagnosis of PRUV was established in the conditions where portal vein reaches to stomach abnormally (roughly, course towards stomach instead of parallel course), fetal gall bladder locates in the medial of umbilical vein or umbilical vein connects to right portal vein abnormally instead of left portal vein. In the cases diagnosed with PRUV, the isolated persistent right umbilical vein or its association with other anomalies was recorded. Ultrasonography findings (minor markers) were also recorded in these cases. Results During the study period, 1856 pregnant women were evaluated for gestational examination. Five cases were established with the diagnosis of PRUV. Accordingly, PRUV prevalence was 0.27%. The PRUV incidence in the study population was 1/370 in the study population. No chromosomal anomaly was found in PRUV cases, but one case had echogenic intracardiac focus, one case had echogenic intestine, and one case had short nasal bone. When organ systems were evaluated, renal cyst was found in one case. No additional finding was found in one case. Conclusion PRUV is the most common form among fetal venous system anomalies. If detected, fetal examination is required in terms of the anomalies that may accompany. Chromosome analysis is not necessary if it is isolated, and it should be evaluated as a variant of normal anatomy.

Intrahepatic persistent fetal right umbilical vein: a retrospective study

Introduction To appraise the incidence and value of intrahepatic persistent right umbilical vein (PRUV). Methods This was a single-center study. Records of all women with a prenatal diagnosis of intrahepatic PRUV were reviewed. The inclusion criteria were women with gestational age greater than 13 weeks of gestation. Exclusion criteria were fetuses with situs abnormalities, due to the hepatic venous ambiguity, and extrahepatic PRUV. The primary outcome was the incidence of intrahepatic PRUV in our cohort. The secondary outcomes were associated malformations. Results 219/57,079 cases (0.38%) of intrahepatic PRUV were recorded. The mean gestational age at diagnosis was 21.8 ± 2.9 weeks of gestations. PRUV was isolated in the 76.7%, while in 23.3% was associated with other major or minor abnormalities. The most common associated abnormalities were cardiovascular abnormalities (8.7%), followed by genitourinary abnormalities (6.4%), skeletal abnormalities (4.6%), and central nervous system abnormalities (4.1%). Within the cardiovascular abnormalities, the most common one was ventricular septal defect (six cases). Conclusion In most cases PRUV is an isolated finding. Associated minor or major malformations are presented in the 23.3% of the cases, so this finding should prompt detailed prenatal assessment of the fetus, with particular regard to cardiovascular system.

Prenatal Diagnosis of Persistent Right Umbilical Vein: Is It Significant?

AbstractA case of Persistent Right Umbilical Vein (PRUV) is reported. Prenatal diagnosis was made on gray scale and color Doppler at the time of routine anomaly scan. The management is briefly discussed.

Demographic and perinatal outcome data of fetuses with SUA/PRUV

Aim: Identify structural anomalies and adverse pregnancy outcomes accompanying single umbilical artery (SUA) and persistent right umbilical vein (PRUV) and to investigate whether SUA and PRUV are associated with chromosomal abnormalities and if these defects warrant invasive antenatal diagnosis.Methods: We retrospectively analyzed pregnancies with an antenatal diagnosis of SUA/PRUV from the International Peace Maternity and Child Health Hospital (IPMCHH) database. Data of structural malformations, fetal karyotyping, and pregnancy outcomes were analyzed.Results: Results revealed that 13.9 and 7% of SUA and PRUV cases, respectively, had malformations. Furthermore, 60% of the malformations accompanying SUA were isolated congenital heart disease (CHD), and 50% of the malformations accompanying PRUV were multiple malformations including CHD. All primarily diagnosed isolated PRUV (iPRUV) cases and 92.6% of primarily diagnosed iSUA cases had normal fetal echocardiography. Cases of iSUA and iPRUV with indications of invasive antenatal diagnosis showed no chromosomal abnormalities. The emergency cesarean section rate did not differ between the study population and the IPMCHH general population (p = .184).Conclusion: Patients of SUA and PRUV diagnosed in secondary hospitals should be referred to tertiary medical center for further ultrasonography. SUA and PRUV are not indicators for invasive antenatal diagnosis and selective cesarean section.

A retrospective single centre review of the incidence and prognostic significance of persistent foetal right umbilical vein

The objective of our study was to appraise the incidence and significance of persistent right umbilical vein (PRUV), the most common foetal venous aberration. Based on a south Indian antenatal cohort, we identified 23 cases of PRUV amongst 20,452 foetuses of consecutive pregnancies, from 2009 to 2014, yielding an incidence of 1 in 889 total births (0.11%). The median maternal age was 24 (IQR, 22–26) years, and median gestational age at diagnosis was 23 (IQR, 22–24) weeks. Intrahepatic drainage of PRUV was seen in 91.3% cases. In three cases (13%), ductus venosus was absent. In 52.2% of the cases, additional major abnormalities were observed – predominantly cardiovascular (39.1%). The common minor marker was single umbilical artery (13%). The karyotype was found to be normal in six cases (26%) which underwent invasive testing. When associated anomalies were inconsequential or absent, the postnatal outcome was good, which reflected in 60.9% of our cases.

2092070 Ultrasound Diagnosis of Persistent Right Umbilical Vein: The Struggle to Determine Significance Remains

Retrospective study of incidence and outcomes of prenatally diagnosed persistent right umbilical vein (PRUV). Between 1/2009 and 9/2014, a detailed sonographic examination was performed on 14,360 patients with mixed risk for fetal anomalies at a single University Medical Center. Persistent right umbilical veins were recorded. All patients with persistent right umbilical vein were offered fetal echo. If an additional anomaly was seen, genetic counseling was offered. All neonates were evaluated by a pediatrician post delivery. Persistent right umbilical vein was detected in 24/14,360 patients. Twenty five percent (6/24) had additional significant malformations. Eighty-three percent (5/6) were detected antenatally, and 67% (4/6) were cardiac anomalies. Eleven percent (2/18) of patients with isolated persistent right umbilical vein had fetal growth restriction (estimated fetal weight less than the tenth percentile for gestational age) on follow-up ultrasound. No other adverse perinatal outcomes found. The overall incidence of persitent right umbilical vein was 1/598. However, outcomes were generally favorable. Nonethless, fetal echocardiogram is suggested for all cases of PRUV due to increased risk of cardiac malformations, and fetal growth assessment is suggested in the third trimester due to increased risk of fetal growth restriction.Tabled 1Ultrasound Diagnosis of persistent right umbilical veinMean maternal age24.0 +/- 5.9 yearsMean gestational age at diagnosis25 5/7 +/- 6/7 weeksMale/female7:4Mean gestational age at delivery39 0/7 +/- 1 3/7 weeksMean birth weight3260 +/- 602 gramsMode of delivery33% Cesearean delivery67% vaginal deliveryAdditional anomalies1 Dandy Walker with persistent vena cava1 Tetralogy of Fallot1 hydronephrosis1 dextrocardia and lung hypoplasia1 large atrial septal defect (diagnosed postnatally)Genetic findings3/24 had genetic consultation0/24 opted for invasive diagnosisFetal echocardiogram21/24 opted for fetal echo5/24 had an abnormal fetal echoFetal Growth Restriction (EFW< 10%)20/24 had follow up growth ultrasounds(54% at 28 weeks and 77% at 32 weeks)2/18 isolated PRUV had fetal growthrestriction1/6 PRUV with associated significantanomaly had fetal growth restrictionIntrauterine fetal demise0Preterm delivery < 34 weeks0Low birth weight (<2,500 grams)2/6 with associated anomalies0/18 isolated PRUV Open table in a new tab

Perinatal outcome after ultrasound prenatal diagnosis of persistent right umbilical vein

ObjectiveOur aim was to describe ultrasound findings and perinatal outcome after prenatal diagnosis of persistent right umbilical vein (PRUV). Study designWe performed a retrospective analysis of fetuses with an ultrasound-based prenatal diagnosis of PRUV on record at 2 tertiary centers in Madrid, Spain. We describe clinical, maternal, fetal and perinatal variables for all cases. ResultsA total of 20,426 fetuses were delivered between the study centers. We detected 22 cases (0.1%) of PRUV. The male-to-female ratio was 1:1. All cases were intrahepatic type and diagnosed during the second and third trimesters (median, 21 weeks; IQR, 20–29 weeks). Doppler ultrasound revealed normal flow in the ductus venosus in all cases. Nine fetuses (40.9%) had additional ultrasound anomalies but no chromosomal abnormalities. Cardiovascular malformations were the most frequently associated congenital anomalies (4/9), followed by neurological malformations (2/9). In 5 of the cases with no concomitant anomalies, the weight of the newborn was below the tenth percentile for gestational age. Gestational development was normal for the remaining newborns. Delivery was unremarkable, and post-natal evolution was favorable. ConclusionOur results point to a potential association between PRUV and other fetal malformations and a very low rate of chromosomal abnormalities. Prenatal diagnosis of PRUV should be followed by detailed anatomical evaluation and echocardiography in order to rule out other structural malformations. The indication for a fetal karyotype study must be made on an individual basis considering PRUV type and other ultrasound findings.

Prenatal ultrasound diagnosis of persistent right umbilical vein and its complicated abnormalities

Objective To investigate the value of prenatal ultrasound in diagnosing fetal persistent right umbilical vein (PRUV) and structural malformations.Methods From April 2007 to August 2011,38 827 pregnant women in Obstetrics and Gynecology Hospital of Fudan University accepted ultrasound examination,among which 109 fetuses were found PRUV.The relation between PRUV and other structural abnormalities was retrospectively analyzed.Results The incidence of PRUV was 0.28％ (109/38 827) including 100 singletons and 9 twins.Among the 109 cases of PRUV confirmed by the prenatal ultrasound diagnosis,95 cases did not complicate with fetal structural abnormality (90 singletons,5 twins),and had normal deliveries with healthy infants.Four infants were tested for their chromosomes and got normal results.The rest 14 fetuses with PRUV suffered from fetal structural abnormality (12.8％,14/109),among which,10 fetus (71.4％,10/14) suffered from cardiovascular abnormality such as endocrinal cushion defeats,double outlet right ventricle,single atrium and single ventricle.Nine pregnant women accepted artificial terminations.Only one of the 14 fetuses had chromosome test and got normal result.Conclusions Once PRUV was diagnosed by prenatal ultrasound,it is suggested to check the fetus carefully,especially the cardiovascular system. Key words: Umbilical veins; Congenital abnormalities; Ultrasonography,prenatal

Persistent right umbilical vein: a prenatal condition worth mentioning?

To investigate the incidence and clinical impact of prenatally diagnosed persistent right umbilical vein (PRUV) in a referral population and to evaluate the findings together with those from previous publications. This was a retrospective analysis of 39 cases with PRUV diagnosed in three tertiary referral centers for prenatal medicine between 1996 and 2009. Fetuses with situs inversus, situs ambiguous and heterotaxy (left and right isomerism) were excluded. During the study period 46 653 consecutive high- and low-risk pregnancies were examined. The prenatal sonograms and neonatal outcome data of affected individuals were reviewed. Our findings were analyzed together with findings retrieved from the scientific literature. Twenty-nine fetuses had an isolated PRUV as a single anomaly, whereas 10/39 (25.6%) were found to have PRUV accompanied by additional minor and major abnormalities. These anomalies comprised mainly cardiovascular, genitourinary and gastrointestinal malformations. In common with our series, previously published cases of isolated PRUV (n = 197) displayed an uneventful course of pregnancy and a favorable postnatal outcome. Sixty-six previously reported cases of PRUV with additional anomalies were identified in the literature. Intrahepatic umbilical drainage is the most frequent type of PRUV. Including our cases, there were 16 cases (5.3%) with extrahepatic drainage of PRUV, all of which had additional anomalies. Consistent with previous reports, in the majority of cases (74.8%) PRUV is an isolated finding. While these cases carry an excellent prognosis, PRUV can be associated with severe congenital anomalies, so this finding should prompt detailed prenatal assessment of the fetus.

Persistent Extrahepatic Right Umbilical Vein

Persistent right umbilical vein (PRUV) is a vascular pathology in which the left umbilical vein becomes occluded while the right umbilical vein persists and remains open. When observing fetal anatomy during a routine 18-week scan, it is important to notice the direction of the vasculature for possible fetal anomalies such as PRUV. In this case, a full detailed sonogram of the fetus was conducted and an extrahepatic PRUV was observed using 2D imaging and further confirmed using color Doppler to identify the type of PRUV. Following the identification of the PRUV, the fetus was thoroughly assessed for the possibility of other associated anomalies. Clearly, when an anomaly is observed, it is crucial to assess the fetus for associated congenital variances to identify risk and potential outcome.

Prenatal Diagnosis of Persistent Right Umbilical Vein Using Three-dimensional Sonography with Power Doppler

To investigate the incidence and the importance of isolated persistent right umbilical vein (PRUV) in our obstetric population and to determine the role of three-dimensional (3D) ultrasound in prenatal diagnosis of isolated PRUV. A total of 1,302 women who received regular antenatal care by a sole obstetrician at our hospital were prospectively evaluated between July 2003 and April 2005. Detailed anatomical evaluation of the fetus was performed by one sonographer. When the diagnosis of PRUV was made, it was confirmed by a senior obstetrician. 3D ultrasound with power Doppler was applied to delineate local anatomy. Echocardiography was performed in all the newborns by pediatric cardiologists to confirm the prenatal diagnosis and to evaluate for the presence of associated anomalies. Six fetuses with PRUV were detected among the 1,302 study subjects. The incidence of PRUV in our population was 0.46% (1:217 live births). Vascular anatomy was easy to demonstrate using 3D power Doppler. The ductus venous (DV) was present in all six fetuses. An atrial septal defect was shown to exist in four newborns by neonatal echocardiography, but spontaneous closure had occurred in the follow-up scan. PRUV is a common vascular anomaly that is easy to be overlooked. Reconstruction of the portal system in the affected fetuses using 3D ultrasound facilitated the identification of the DV. If the DV is present, and other anomalies are excluded, the fetus with PRUV has a good outcome.

Persistent Right Umbilical Vein Associated with Complex Congenital Cardiac Malformation

Umbilical venous catheterization is frequently used for vascular access during neonatal resuscitation. The differentiation between umbilical artery and vein, specifically during the resuscitation procedure, is clinically neither always easy nor unambiguous. A preterm infant of 35 weeks of gestational age was born after an uneventful course of his mother's pregnancy. Severe postnatal cyanosis led to the placement of presumed arterial and venous umbilical catheters. Chest x-ray was suggestive of the presence of a persistent right umbilical vein (PRUV). Echocardiography showed a double outlet right ventricle with mitral atresia and a levo-atrial cardinal vein draining the left atrium into the azygos vein. The foramen ovale was firmly closed and conventional balloon atrioseptostomy failed. Several attempts of transseptal puncture and subsequent creation of an atrial septal defect were unsuccessful and the infant eventually died. There is an association of PRUV and congenital cardiac malformation. PRUV can be diagnosed prenatally if specifically looked for. The presence of PRUV can be the only clue prenatally alerting to the presence of congenital heart disease. Postnatal diagnosis of PRUV may justify echocardiography and cardiologic assessment even in the absence of clinical cyanosis.

An anomaly in persistent right umbilical vein of portal vein diagnosed by ultrasonography

To detect the anomaly in the persistent right umbilical vein (PRUV) of portal vein (PV) with deviation of the ligamentum tere and left-sided gallbladder. A total of 5783 candidates for routine analysis were evaluated for hepatic vascular abnormalities by ultrasonography. Ten candidates (0.17%) had a portal vein anomaly with a rightward-deviated ligamentum tere. The blood-flow velocity in the PRUV of the portal vein (17.7+/-3.0 cm/s) of the 10 cases was similar to that of the right anterior portal trunk (17.6+/-4.1 cm/s). However, the vessel diameter of the PRUV (eta12.4+/-4.4 mm) was larger than the right anterior portal trunk (eta6.1+/-0.9 mm). Therefore, flow volume in the anomalous portion (0.97+/-0.30 L/min) was more than that in the right anterior portal trunk (0.18+/-0.05 L/min). The anomaly plays an important role in intra-hepatic PV flow.

P106Persistent right umbilical vein: incidence and significance in a low risk population

ObjectivesOur purpose was to conduct the first prospective evaluation of the incidence and neonatal outcome of fetuses with persistent right umbilical vein (PRUV). This condition had traditionally been considered to be extremely rare and to forebode grave consequences for the babies, but later evidence raised some doubt upon the veracity of these contentions.MethodsBetween August 1995 and November 1998, 8950 low‐risk patients were prospectively evaluated at two medical centers. The ultrasonographic diagnosis of a persistent right umbilical vein was made in a transverse section of the fetal abdomen when the portal vein was curved toward the stomach and the fetal gallbladder was located medially to the umbilical vein.ResultsSeventeen cases of fetuses with PRUV were detected during the study period among the 8950 study participants. Four of them had additional malformations of which three had been detected antenatally.ConclusionsWe established that the incidence of PRUV in a low risk population is 1:526. We believe that the sonographic finding of this anomaly is an indication for conducting targeted fetal sonography and fetal echocardiography. When the PRUV is connected to the portal system and after other anomalies are ruled out, the prognosis can generally be expected to be favorable.