Four-vessel umbilical cord

21st World Congress on Ultrasound in Obstetrics and Gynecology

revealed an 8-Mb stretch of paternal SNPs in chromosome region 14q32.2qter directly neighboring the distal end of the triplication, which is consistent with a paternal isodisomy. This region carries a cluster of imprinted genes whereby absence of maternal expressed genes would explain the fetal phenotype. The gene dosage effect of the triplicated genes on the phenotype is not known. The risk for recurrence is low, because both parents have normal (molecular) karyotypes. Further molecular investigation is being performed to unravel the etiology of the fetal karyotype. This case illustrates the diagnostic power of genome-wide analysis, although it may not always explain a complex phenotype. Therefore, laboratories and clinicians must strictly adhere to a joint policy when applying genome-wide analysis into daily practice.

P09.03 Hemifacial microsomia with spinal and rib anomalies: prenatal diagnosis and post-mortem confirmation using 3D CT reconstruction

Poster abstracts

intrahepatic PRUV with normal DV connection is usually a normal anatomic variant with no clinical significance. Persistence of the right umbilical vein can be intracorporeal or extracorporeal (within the umbilical cord). In the latter case, a 4-vessel umbilical cord results. Supernumerary vessels of the umbilical cord are rare and have been associated in the literature with congenital anomalies. We report a case of an apparent isolated PRUV first diagnosed at 15 weeks of gestation on routine sonographic anomaly scan. However at 24 weeks’ gestation persistent right and left extracorporeal umbilical veins, fusing into one umbilical vein after a free loop section adjacent to the abdominal insertion, were demonstrated. The right umbilical vein supplied part of the right portal system, while the left umbilical vein supplied part of the left portal system and part of the right portal system. This is the first report of 4-vessel cord to include description of the intra-hepatic course of the anomalous veins. Amniocentesis revealed normal female karyotype; abdominal sonography at the age of 37 days revealed normal anatomy including normal course of the great vessels.

K. K. Haratz1,2 , C. Vinkler3,5 , D. Lev3,5 , L. Schreiber4,5 , G. Malinger1,5

Supporting information can be found in the online version of this abstract.

1

Division of Prenatal Diagnosis, Wolfson Medical Center, Holon, Israel; 2 Fetal Medicine Discipline, Department of ˜ Paulo-UNIFESP, Sao ˜ Obstetrics, Federal University of Sao Paulo, Brazil; 3 Genetics Institute, Wolfson Medical Center, Holon, Israel; 4 Department of Pathology, Wolfson Medical Center, Holon, Israel; 5 Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel

P09.05 Large cutaneous hemangioma in the Klippel-Trenaunay-Weber syndrome: prenatal sonographic detection H. Cho, Y. Kim, J. Kim, T. B. Song

Hemifacial microsomia (OMIM164210) is a condition featuring unilateral ear anomalies and ocular epibulbar dermoids associated with unilateral underdevelopment of the craniofacial bony structures. Other associated anomalies have also been described, especially spinal malformations, and the term oculoauriculovertebral dysplasia spectrum was suggested to include the three predominant systems involved. Both genetic and environmental causes are implied in the pathogenesis of the syndrome, with 3% of recurrence rate according to reports of both vertical transmission and affected siblings. No specific gene was identified, albeit mutations in chromosome 10 and deficiencies of genes in the endothelin pathway in mice exhibited the same clinical features. We hereby describe a case of prenatal diagnosis of spinal and rib malformations associated to hemifacial microsomia by means of 2D and 3D ultrasound in a 23-weeks fetus. The sonographic study depicted fetal scoliosis due to the presence of hemivertebrae, Sprenghel’s deformity of the left shoulder, ribs fusion, asymmetric ears with unilateral microtia, mandible unilateral hypoplasia as well as single umbilical artery and a ‘‘golf ball’’ sign in the left ventricle of the heart. The diagnosis of OVAS was suggested and the family received proper genetic consultation. After termination of the pregnancy, the syndrome was confirmed by post-mortem 3D computed tomography study. In view of the grim outcome, prenatal death rate and high mortality and morbidity when three or more systems are involved, prenatal diagnosis and appropriate counseling is warranted.

P09.04 Four-vessel umbilical cord H. Avnet1,2 , O. Shen3 , E. Mazaki3 , S. Yagel1 , E. Daniel-Spiegel4 1 Obstetrics and Gynecology, Hadassah-Hebrew University Medical Centers, Mt. Scopus, Jerusalem, Israel; 2 Obstetric and Gynecology, Carmel Medical Center, Haifa, Israel; 3 Obsterics and Gynecology, Shaare Zedek Medical Center, Jerusalem, Israel; 4 Obsterics and Gynecology, Haemek Medical Center, Afula, Israel

Persistent right umbilical vein (PRUV) is the most frequently detected fetal venous system anomaly. In the absence of other anomalies

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Department of Obstetrics & Gynecology, Chonnam University Hospital, Gwangju, Republic of Korea Klippel-Trenaunay-Weber syndrome is a rare congenital disorder that may present with various abnormalities. It is characterized by the presence of multiple skin hemangioma, asymmetric limb hypertrophy and arterio-venous fistula. We report a case of KlippelTrenaunay-Weber syndrome presenting prenatally as a massive cutaneous hamangioma of trunk, buttock and thigh in the fetus left side. Routine ultrasonographic examination revealed multiple distorted cystic areas extending from the left chest through the left lower extremity and intra-abdomen of a 21-week fetus. Most of these lesions sere anechoic, but some had diffuse low-level echoes and others contained mixed component. Termination of pregnancy was achieved using misoprostol. A female stillborn fetus with a weight of 830 g was delivered. The postmortem and pathologic examination confirmed the diagnosis of hemangioma. Supporting information can be found in the online version of this abstract.

P09.06 Hyperechoic rectum: first ultrasound finding in cystinuria just after 22 weeks of gestation G. Haddad1,4 , S. Chretien1,3 , F. Muller2 , X. Favre1,3 , J. Develay-Morice5 , F. Perrotin1,4 , S. Amat6 Fetal Medicine, CFEF, Tours Cedex, France; 2 Biochimie Hormoologie, Hopital Robert Debre APHP, Paris, France; 3 Mosaique Sant´e, La Chaussee Saint Victor, France; 4 CFEF, Blois, France; 5 CFEF, Nˆımes, France; 6 Hopital Jean Villar, CFEF, Bordeaux, France

1

We report a case of 2 consecutive pregnancies of healthy first cousin Turkish parents. In the first pregnancy, we observed a hyperechoic colon at 32 W. In reference to the publication of Brasseur-Daudruy we suspected a cystinuria. For the first time this diagnosis was confirmed in prenatal after performing

Ultrasound in Obstetrics & Gynecology 2011; 38 (Suppl. 1): 168–281