Incidence of an Aberrant Right Subclavian Artery on Second-Trimester Sonography in an Unselected Population.

OBJECTIVES: The aim of this study was to assess the incidence of an aberrant right subclavian artery (ARSA) among an unselected population during second-trimester sonography and to review the importance of this conotruncal variant as a marker of Down syndrome. METHODS: The presence or absence of an ARSA was assessed in an unselected population of 1913 second-trimester fetuses. RESULTS: Among the 1913 patients, an ARSA was detected in 20 fetuses (1.04%), all with a normal karyotype. Thirteen of 20 fetuses had an isolated ARSA, and 7 of them were nonisolated. Associated abnormal sonographic findings were an intracardiac echogenic focus (n = 3), a choroid plexus cyst (n = 1), pyelectasis (n = 1) and tetralogy of Fallot (n = 2). One of the cases of tetralogy of Fallot was also associated with a persistent left superior vena cava, a persistent right umbilical vein, hydrocephalus, rhombencephalosynapsis, and unilateral renal agenesis. There were only 2 fetuses with Down syndrome in this group, and both of them had a normal origin of the right subclavian artery. CONCLUSIONS: In an unselected population, an ARSA may be seen less frequently than in a high-risk population and may not be related to Down syndrome. An isolated ARSA is not a sufficient indication for karyotype analysis; it can be managed with noninvasive prenatal testing rather than invasive testing.

Extrahepatic vitelline vein aneurysm: prenatal diagnosis and follow up.

Umbilical vein varix is a well-described prenatal anomaly in which the prognosis remains unclear. We describe a very rare venous malformation that mimicked an umbilical vein varix consisting of a persistent vitelline vein. From 2003 to 2010, three patients were referred starting at 20 weeks gestation to our prenatal centers for an umbilical vein varix diagnosis. Fetal follow up was unremarkable, with the exception of the dilated vein size (mean: 35 mm at 33 weeks gestation). After birth, the three children presented with thrombosis from the aneurysmal sac to the portal trunk. All the children underwent surgical thrombectomy and resection of the aneurysmal sac after birth. Operative findings showed no umbilical vein but an abnormal dilated and thrombosed vein coming from the umbilicus to the portal vein following the right vitelline vein trajectory. One child was treated with systemic heparin. Median follow up is 5.6 years. Currently, one patient has a normal portal flow. The other two have persistent portal vein thrombosis with portal cavernoma and portal hypertension. This malformation is rare and should be considered in cases of early diagnosed umbilical vein varix whose diameter is greater than 20mm. We advocate an early surgical thrombectomy with heparinization to prevent portal vein thrombosis.

Fetal diagnosis of superior vena cava aneurysm.

Superior vena cava aneurysm is a rare intrathoracic vascular lesion with only 27 cases reported in the literature. The majority are fusiform and can be associated with cystic hygroma due to the close embryonic relationship between lymphatic vessels and systemic veins. This is the first report of superior vena cava aneurysm diagnosed with fetal echocardiography in a fetus with a cystic hygroma. There is a need of a prospective registry to further delineate all aspects of this condition and establish the most appropriate therapeutic approach.

Evolution of congenital malformations of the umbilical-portal-hepatic venous system.

OBJECTIVE: The objective of this study is to describe the evolution of 8 cases of congenital malformations of the umbilical-portal-hepatic venous system diagnosed before the first month of life. MATERIALS AND METHODS: All cases of congenital malformation of the portal and hepatic venous system diagnosed prenatally or during the first month of life in our institution were systematically reviewed since November 2000. Clinical features, imaging, and anatomical findings were reviewed, focusing primarily on clinical and radiologic evolution. RESULTS: Eight cases of congenital malformation of the umbilical-portal-hepatic venous system were studied. Fifty percent of these malformations were diagnosed prenatally. We report 4 portosystemic shunts. Three involuted spontaneously, and the fourth one required surgical treatment. We report a variation of the usual anatomy of portal and hepatic veins that remained asymptomatic, an aneurysmal dilatation of a vitelline vein causing portal vein thrombosis that needed prompt surgical treatment with good result, a complex portal and hepatic venous malformation treated operatively, and a persistent right umbilical vein that remained asymptomatic. CONCLUSION: Prenatal diagnosis of malformations of the umbilical-portal-hepatic venous network is uncommon. Little is known about the postnatal prognosis. Clinical, biologic, and radiologic follow-up by ultrasonography is essential to distinguish pathologic situations from normal anatomical variants.

Tricuspid atresia with absent pulmonary valve and intact ventricular septum: intrauterine course and outcome of an unusual congenital heart defect.

The extremely rare syndrome including absent pulmonary valve associated with membranous tricuspid atresia or severe tricuspid stenosis, intact ventricular septum and patent ductus arteriosus has been reported sporadically in the postnatal literature. This cardiac defect is characterized by right ventricular dysplasia with asymmetrical ventricular septal hypertrophy, ventricular septum bulging into the left ventricle, small right ventricular cavity, membranous tricuspid atresia or severe stenosis with abnormal papillary muscles and leaflets and absence of the pulmonary valve leaflets. The only prenatal case reported so far was diagnosed at 33 weeks of gestation and terminated shortly thereafter; the natural history of prenatally diagnosed cases is therefore unknown. We report on the intrauterine course of a case diagnosed at 17 weeks of gestation that had a favorable postnatal outcome after palliation.

Sciatic artery aneurysm.

Sciatic artery aneurysm is a rare condition. We treated 4 patients. The clinical presentation in all 4 was as a result of aneurysm complications. The diagnosis was made on angiography in all of them. Surgical treatment was successful in 3 of the 4 patients.