2008/03/28 by Filippo Taddei, F. Taddei, M. Signorelli +6
Biochemistry, Genetics and Molecular Biology · Medicine · #Congenital Anomalies and Fetal Surgery #Congenital heart defects research #Protein Tyrosine Phosphatases
paper · pdf · doi:10.1002/uog.5281
openalex publication_date 2008/03/28 · openalex created_date 2025/10/10 · openalex updated_date 2026/07/15
A 22-year-old woman, gravida 2, had had a Cesarean section for breech presentation at term in her previous pregnancy. After referral for a suspected fetal pericardial effusion a detailed ultrasound examination was performed at 21 + 5 weeks using an iU-22 ultrasound system (Philips, Bothell, WA, USA) equipped with a 1–3-MHz × 3–1 matrix array transducer. Mild cardiomegaly and marked left cardiac axis deviation were observed. The fossa ovalis was widely patent, and the flap valve was not seen clearly. The umbilical vein had an abnormal course: after entering the fetal abdomen, it ran between the liver and the right abdominal wall, crossing the diaphragm and connecting directly to the right atrium. No ductus venosus was seen, while the portal vein appeared normal. Matrix array biplane imaging modality easily allowed demonstration of the four-chamber views, the abnormal connection of the umbilical vein to the right atrium, and normal superior and inferior venae cavae (Figure 1, Videoclip S1). Real-time three-dimensional (3D) ultrasonography allowed the further delineation of the arrangement of the venous returns connecting to the right atrium, to demonstrate the abnormal connection of the umbilical vein to the right atrial wall, and to estimate its relative size (Figure 2, Videoclip S2). Normal right and middle hepatic veins could be traced, while the left could not be clearly identified. Karyotyping following cordocentesis revealed a normal male karyotype. Mutations of the PTPN11 gene were excluded. At 37 weeks' gestation, owing to the onset of uterine contractions and maternal choice for repeat abdominal delivery, a 3100-g infant was delivered by Cesarean section. Postnatally, significant blood shunting through the foramen ovale persisted, and right ventricular function was reduced. Hypoplasia of the left hepatic lobe was diagnosed, but global liver function was normal. Matrix array biplane ultrasound image during systole (a) and diastole (b). The left side of each image shows a four-chamber view, and the right half shows a sagittal plane demonstrating the abnormal connection of the umbilical vein to the right atrium, and normal superior and inferior venae cavae (arrows). Ao, aorta; LA, left atrium; LV, left ventricle; RA, right atrium; RV, right ventricle; UV, umbilical vein. Still frame from real-time three-dimensional ultrasound imaging demonstrating the abnormal connection of the umbilical vein to the right atrial wall. IVC, inferior vena cava; LA, left atrium; RA, right atrium; SVC, superior vena cava; UV, umbilical vein. Absence of the ductus venosus is a rare but well described abnormality the prognosis of which is determined by its association with hydrops and structural or chromosomal abnormalities1-3. An association with Noonan's syndrome has also been described3, and mutations of the PTPN11 gene can be detected in a substantial proportion of affected individuals4. In the present case, the diagnosis of absence of the ductus venosus was made at 21 weeks' gestation and refined with the help of four-dimensional (4D) ultrasound5-10. We employed two imaging modalities of 4D data obtainable with matrix array transducers—biplane imaging and real-time 3D imaging. Biplane imaging allowed us to define the anatomy of the four-chamber view, and umbilical and systemic venous return using a single datum acquisition, by contemporaneously displaying two properly angled section planes (Figure 1). Real-time 3D imaging proved superior to conventional two-dimensional imaging in depicting the anatomy of the right atrial surface and the connection of the umbilical vein (Figure 2). In summary, we describe here for the first time a case of agenesis of the ductus venosus imaged with a matrix-array transducer. The impact of this technology in the clinical management of vascular and cardiac abnormalities has yet to be defined. The following material is available from the Journal homepage: http://www.interscience.wiley.com/jpages/0960-7692/suppmat (restricted access) Videoclip S1 Real-time matrix array biplane imaging. The left half of the screen shows a four-chamber view, the right half a sagittal plane demonstrating the abnormal connection of the umbilical vein to the right atrium, and normal superior and inferior venae cavae. Videoclip S2 Real-time three-dimensional ultra-sound demonstrating the abnormal connection of the umbilical vein to the right atrial wall This article contains supplementary material available via the Internet from the Journal http://www.interscience.wiley.com/jpages/0960-7692/suppmat Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article. F. Taddei*, M. Signorelli*, F. Prefumo*, L. Franceschetti*, M. Marasini , C. Groli , * Department of Obstetrics and Gynaecology, University of Brescia, Genova, Italy, Department of Paediatric Cardiology, Institute G. Gaslini, Genova, Italy