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.

Aberrant Right Subclavian Artery: Correlation Between Fetal and Neonatal Abnormalities and Abnormal Genetic Screening or Testing.

OBJECTIVES: To determine whether fetuses with an isolated aberrant course of the right subclavian artery (ARSA) have increased risk for chromosomal abnormalities, including trisomy 21 or 22q11 deletion. METHODS: We performed a retrospective chart review of all fetuses with antenatally diagnosed ARSA. Data were collected from fetal anatomic surveys, fetal echocardiograms, noninvasive trisomy 21 screening programs, invasive genetic studies, and neonatal records. RESULTS: Seventy-nine fetuses with ARSA were identified at 20.3 ± 3.8 weeks' gestation. Forty-eight fetuses underwent chromosomal evaluation. Of those, seven had trisomy 21. Four other fetuses had unusual karyotype abnormalities. All fetuses with genetic anomalies had additional aberrant ultrasound findings. There were three spontaneous fetal deaths (trisomy 21-2 and Wolf-Hirshhorn-1). Nine pregnancies were terminated because of abnormalities and one died as a result of hypoplastic left heart syndrome. No neonate was found or suspected to have 22q11.2 deletion. The ARSA was isolated in 43 fetuses; all had unremarkable neonatal outcomes, and none were readmitted within 6 months after discharge. CONCLUSIONS: As an apparently isolated finding, ARSA is benign and not associated with trisomy 21 or 22q11.2 deletion. The finding of ARSA, however, warrants a detailed fetal ultrasound. All fetuses with ARSA and genetic anomalies had additional ultrasound findings.

[Aberrant right subclavian artery (ARSA)--a new sonographic marker for chromosomal aberrations in the second trimester--preliminary observations]. / Bladzaca prawa tetnica podobojczykowa--nowy marker aberracji chromosomowych w badaniu USG drugiego trymestru--wstepne obserwacje na materiale wlasnym.

OBJECTIVES: Presentation of our own, preliminary experiences in the assessment of the right subclavian artery's (RSA) position during the second trimester scan. MATERIAL AND METHODS: Since January 2012 our center has started to conduct the assessment of the position of the right subclavian artery in the second trimester scan. Patients who were diagnosed with an aberrant right subclavian artery (ARSA) were referred to invasive method of prenatal diagnosis. Abnormal karyotype and microdeletion 22q11 were analyzed. Detailed echocardiography was conducted in each case. RESULTS: Between January 2012 and September 2013 we diagnosed 19 cases of ARSA. There were three cases of congenital heart defect (15.8%; 3/19) (ventricular septal defect--VSD, n=2, atrioventricular septal defect--AVSD, n=1). Two out of 17 cases showed an abnormal karyotype (11.8%; 2/17)--46,XY del(5) (q15q31) and 47,XX+18. No 22q11.2 deletions were observed. Two patients did not consent to invasive methods of prenatal diagnosis. CONCLUSIONS: The position of the right subclavian artery (RSA) should be routinely assessed during the second trimester of ultrasound screening. The presence of ARSA increases the risk for abnormal karyotype in the fetus and therefore, all patients who are diagnosed with ARSA should be referred to the reference center.

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.

Origin and course of the extracranial vertebral artery: CTA findings and embryologic considerations.

PURPOSE: The aim of this study was to show the different origins and courses of the extracranial VA on CTA with special emphasis on embryological considerations. The duplicated VA is an anomaly that has been assumed to predispose for dissection and to be associated with aneurysms. We report its frequency and clinical significance. METHODS: We retrospectively reviewed CTA of 539 patients by using a contrast-enhanced CTA protocol of the VA on CT. RESULTS: Ninety-four-point-two percent of left VA originated from left subclavian artery and entered the transverse foramen at C6 in nearly all cases. Six-point-three-percent of left VA (m = 4 %, f = 10 %) originated from the aortic arch and entered the transverse foramen either at C4, C5 or C7 but never at C6. One case of an aberrant retroesophageal right VA originated from the aortic arch distal to the left subclavian artery and entered at C7 (0.19 %). All other right VA originated from the right subclavian artery (99.8 %) and entered between C4 and C6. We diagnosed four cases of duplicated VA (0.74 %) with a female predominance (1.9 %) without any signs of dissection on CTA. Two cases with VA duplication had intracranial arterial aneurysms. CONCLUSIONS: The VA is a longitudinal anastomosis of segmental metameric arteries. The level of entrance into the transverse foramen indicates which metameric artery or arteries persist. Duplication corresponds to persistence of two segmental arteries and is a rare phenomenon. VA duplication might be associated with vascular lesions.

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.

Aberrant right subclavian artery (ARSA) in unselected population at first and second trimester ultrasonography.

OBJECTIVES: To evaluate the feasibility of examining aberrant right subclavian artery (ARSA) at first and second trimester gestation, its prevalence and associations in an unselected population. METHODS: Right subclavian artery (RSA) was prospectively evaluated in 6617 routine patients. When ARSA was detected, fetal echocardiography was offered and fetal karyotyping was discussed. If invasive testing was performed with normal karyotype, fluorescence in situ hybridization for 22q11.2 microdeletion and additionally, in case of nuchal translucency (NT) measurement above the 99(th) centile, oligo array-based comparative genomic hybridization, were offered. In all aneuploidies, NT and first trimester additional ultrasonographic (US) markers assessment (nasal bone, tricuspid valve, ductus venosus) were recorded. RESULTS: RSA assessment was feasible in 85.3% and 98% of first and second trimester examinations, respectively (overall feasibility 94%). There were detected 89 ARSA (1.42% of the feasible cases), of which 66 in the first trimester. More than 20% were associated to other abnormalities: 10 aneuploidies; 2 microdeletions (15q11.2 and 22q11.2); in the euploid fetuses, 8 associated abnormalities were observed, 4 of which were cardiac defects. In the case of 22q11.2 microdeletion, ARSA was associated only with increased NT. CONCLUSION: Prenatal routine US assessment of the RSA is feasible by highly experienced operators in first trimester screening. There is an important association of ARSA detected in unselected population with fetal abnormalities, including aneuploidies, cardiac defects and genetic anomalies. In trisomy 21 fetuses, ARSA can be the only first trimester US marker or, when associated to increased NT, it can represent the only 'additional' marker.

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.

Absence of TGFbeta signaling in embryonic vascular smooth muscle leads to reduced lysyl oxidase expression, impaired elastogenesis, and aneurysm.

To address the requirement for TGFbeta signaling in the formation and maintenance of the vascular matrix, we employed lineage-specific mutation of the type II TGFbeta receptor gene (Tgfbr2) in vascular smooth muscle precursors in mice. In both neural crest- and mesoderm-derived smooth muscle, absence of TGFbeta receptor function resulted in a poorly organized vascular elastic matrix in late-stage embryos which was prone to dilation and aneurysm. This defect represents a failure to initiate formation of the elastic matrix, rather than a failure to maintain a preexisting matrix. In mutant tissue, lysyl oxidase expression was substantially reduced, which may contribute to the observed pathology.

Prenatal diagnosis of vein of Galen aneurysmal malformation: report of two cases with proposal for prognostic indices.

Vein of Galen aneurysmal malformation (VGAM) is a rare, intracranial vascular anomaly that, until recently, has usually been diagnosed postnatally. Today, however, with the advances in high-resolution ultrasonography and colour Doppler, prenatal diagnosis is relatively easy. Due to novel intravascular embolization techniques, the prognosis of neonates with VGAM has markedly improved. A healthy infant with normal neurodevelopmental and cardiovascular status is now a reality. For the best outcome, however, careful planning of the appropriate time, mode, and place of delivery should be undertaken. To achieve this goal, in utero prognostic factors should be determined. This report illustrates, for the first time, prenatal ultrasonographic indices that may predict the outcome in two cases with a prenatal diagnosis of VGAM. The indices included mapping of intracranial feeding arteries, assessment of the width of the straight sinus, assessment and measurement of flow in the straight sinus, existence of 'steal' retrograde aortic flow, and the appearance of high-output cardiac state. By using these prenatal ultrasonographic parameters, fetal outcome may be predicted and appropriate management decided upon.

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.

Superior mesenteric venous aneurysm.

A patient presented with recurrent upper gastrointestinal bleeding. Celiac and superior mesenteric angiography showed a superior mesenteric venous aneurysm, a normal-sized liver, an enlarged spleen, and esophageal varices. The patient gave no history of hepatitis or alcoholism. It is concluded that the portal hypertension was secondary to aneurysm of the superior mesenteric vein. Aneurysms of the portal venous system can cause chronic portal hypertension due to alteration of blood flow. We believe this to be the second case reported in the English literature of a superior mesenteric venous aneurysm.