Association of an increased nuchal translucency with total agenesia of the ductus venosus Congenital cataract as an only sign in Down Syndome: case report Ellis-Van Creveld syndrome Early neonatal outcomes of idiopathic polyhdramnios (original) (raw)
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European Journal of Obstetrics & Gynecology and Reproductive Biology, 2019
Introduction: Absence of the ductus venosus (ADV) is a rare vascular anomaly often associated with fetal cardiac/extracardiac anomalies, aneuploidies, and hydrops. This study assesses the abnormal venous circulation, associated malformations, and chromosomal anomalies of ADV. Materials and Methods: The authors performed a retrospective study of 14 cases with ADV diagnosed by the prenatal ultrasound in tertiary referral center from 2009 to 2017. Results: The authors detected 14 patients of ADV. Karyotyping was offered to all cases, and four patients accepted the procedure. Normal karyotype was found in three out of four cases, while one case had 45,X0. Five cases underwent termination of pregnancy, six cases died at neonatal period due to accompanying cardiac anomalies, and heart failure. Three cases survived (the oldest baby is 4-years-old now). Umbilical vein (UV) was connected to portal venous system (PVS) in two cases (intrahepatic drainage, one of them is surviving), while UV was connected to systemic venous circulation in 12 cases (extrahepatic drainage, two of them are surviving). In five cases there was no other reason that might explain cardiomegaly and hydrops except ADV (two of them is surviving). Three cases were diagnosed as cystic hygroma in first trimester additionally found ADV. All of surviving fetuses delivered after 35 th weeks of gestation. Conclusion: The presence fetal hydrops, accompanying congenital anomalies, and prematurity are associated with poor prognosis in fetuses with ADV. In isolated cases, the prognosis is generally good.
The Incidence of the Agenesis of Fetal Ductus Venosus at the 11–13 Weeks’ Ultrasound Examination
Cureus
Objective: The objective is to examine the incidence of agenesis of fetal ductus venosus (DV) at the routine ultrasound examination at 11-13 weeks. Materials and methods: 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. Results: 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. Conclusion: 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.
Hydrops Fetalis Due to Agenesis of the Ductus Venosus: New Hepatic Histological Features
Pediatric and Developmental Pathology, 2009
We describe the clinical course and autopsy findings of a male infant with hydrops fetalis due to agenesis of the ductus venosus. Fetal echocardiography at 27 weeks in gestation demonstrated hydrops fetalis due to unknown causes. The baby was born at 28 weeks in gestation by emergency caesarean section because of preeclampsia and progressive hydrop fetalis but died immediately at birth. The umbilical vein catheter ran an unusual course: left renal vein and inferior vena cava were opacified after postmortem injection of radiopaque dye into the umbilical vein. The autopsy demonstrated agenesis of the ductus venosus without extrahepatic umbilical venous drainage. The type without extrahepatic venous drainage is rare but shows a favorable outcome in general. However, our findings illustrate that in addition to sinusoidal dilatation, some cases may induce significant medial hypertrophy of portal veins, leading to hydrops fetalis and neonatal demise.
Prenatal diagnosis of congenital agenesis of the fetal portal venous system
Ultrasound in Obstetrics and Gynecology, 2009
Objective To describe the prenatal diagnosis and review our experience of fetal congenital agenesis of the portal venous system (CAPVS) and to review the current literature on this poorly documented vascular malformation. Methods This was a retrospective survey covering the 12-year period between 1996 and 2008. The database of a single, large, ultrasonographic tertiary academic referral center in Israel was analyzed and cases with a prenatal diagnosis of CAPVS were identified. All fetuses underwent detailed biometric and structural ultrasound examinations and a precise anatomical description of the fetal umbilical, portal and hepatic venous system was noted, as well as the presence of aberrant vessels, shunt location and the presence or absence of the DV. Results of fetal echocardiography, karyotyping and toxoplasma, rubella, cytomegalovirus and herpes evaluations were determined. Medical records were evaluated. Diagnosis was confirmed by pathology, postmortem venography or neonatal ultrasound or venography. Liveborns were examined by a certified neonatologist and long-term follow-up from pediatric gastroenterology units was determined. Results Nine cases with CAPVS were studied. In all cases an aberrant umbilical-portal vein was the primary indication for detailed portal system evaluation. Five fetuses demonstrated total CAPVS (Type I) and four showed partial agenesis of the portal vein (Type II). Among the five Type I fetuses, there was a shunt from the umbilical vein to the inferior vena cava in three (60%), to the right atrium in one and to the coronary sinus in one. In this group, in only one case could we delineate a common confluence between the splenic vein and the superior mesenteric vein shunting to the inferior vena cava. In four cases termination of pregnancy was performed due to additional findings: one case with hydrothorax, ascites and mitral atresia, one with cleft lip/palate and one with trisomy 21. One case had no additional anomalies, but the parents elected to terminate the pregnancy. All four of the Type II fetuses had a portosystemic shunt: in two cases to the right atrium, in one to the iliac vein and in one to the right hepatic vein. In three, the shunt resolved spontaneously. In only one case was abnormal liver function present over a follow-up period of 2-10 years. Conclusion CAPVS can be detected prenatally. An abnormal course of the umbilical vein necessitates prompt sonographic evaluation of the umbilical-portal venous system and meticulous investigation for additional anomalies. Complete CAPVS may be associated with remote clinical consequences of which the parents should be informed. Partial CAPVS has a favorable prognosis.
Journal of perinatal medicine, 2018
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. We performed a systematic review of the literature of MEDLINE and SCOPUS electronic databases in a 25-year period from 1992 to September 2017. 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...
Agenesis of Ductus Venosus Presenting with Dilated Inferior Vena Cava with Favorable Outcome
International Journal of Women's Health and Reproduction Sciences, 2014
The ductus venosus regulates the distribution of oxygen and placental nutrients by restricting the centralization of blood flow in fetal circulation. The ductus venosus is a small vein transmitting oxygen-rich blood from the umbilical vein to the fetal heart.. Increasing numbers of case reports are being published about ductus venosus agenesis with cardiac structural abnormalities, other malformations, chromosomal abnormalities, and stillbirth. Heart failure, hydrops and unexplained polyhydramnios could also be associated with ductus venosus agenesis. In the follow-up of fetuses with ductus venosus agenesis, care must be taken to examine for hydrops and heart failure. The agenesis of ductus venosus is often only found in fetuses by coincidentally. Herein we discuss the prenatal diagnosis of isolated agenesis of the ductus venosus presenting with a dilated inferior vena cava and without any disturbance of fetal hemodynamics and any other malformation. In conclusion a dilated inferior vena cava can be a sign of ductus venosus agenesia.
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 ¼ 64/259, 24.7%), hydrops (n ¼ 31/259, 12.0%) and amniotic fluid abnormalities (n ¼ 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 ¼ 66), extra-cardiac anomalies (n ¼ 19) and both cardiac and extra-cardiac anomalies (n ¼ 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 ¼ 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.
The ductus venosus in early pregnancy and congenital anomalies
Prenatal diagnosis, 2004
The ductus venosus (DV) is a tiny vessel leading oxygenated blood from the placenta to the fetal heart and its flow assessment has been used as an indicator of fetal acidemia. At 11 to 14 weeks, the fetuses with increased nuchal translucency also showing an abnormal DV blood flow were consistently found to be aneuploid. Early cardiac dysfunction, signaled by abnormal DV blood flow, was suggested as the underlying cause of increased nuchal translucency. Detection rates for aneuploidy with the use of DV blood flow studies range from 59 to 93% with 2 to 21% false-positive rates. In fetuses with normal karyotype, an abnormal DV flow pattern signals cardiac defects or adverse perinatal outcome.
Ultrasound in Obstetrics & Gynecology, 2004
Conversely to the normal right subclavian artery arising from the brachiocephalic artery, an aberrant right subclavian artery (ARSA) arises as a separate vessel from the aortic isthmus and crosses to the right, behind the trachea. This variant is present in less than 1% of the normal population but pediatric cardiology observations report on a frequent occurrence in subjects with Down's syndrome (DS). The purpose of this study was to assess the possibility of detecting an ARSA in fetuses with DS. Patients and Methods: 14 fetuses with prenatally detected DS were examined between 18 and 33 weeks of gestation. The right subclavian artery was visualized in the transverse three-vesseltrachea view of the upper thorax using color Doppler to detect a normal arising vessel or an ARSA. Results: An ARSA was identified in 35.7% (5/14) of trisomy 21 fetuses. In only one fetus it was associated with a cardiac defect (AVSD) and the four others it was either isolated (n = 1) or associated with an intracardiac echogenic focus. Conclusions: This preliminary study suggests that the in utero identification of an ARSA may be a new ultrasound marker found in fetuses with Down's syndrome. OC177 Abnormal umbilical, portal and hepatic venous system-the importance of the presence of ductus venosus for fetal survival