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Large duplication of the short arm of chromosome 5 is a rare condition normally associated to severe phenotype anomalies including heart and brain malformations. We report a prenatal case of a large 5p duplication with sub-telomeric deletion in a foetus with very mild phenotypic abnormalities. Foetal ultrasonographic examination at 22 weeks of gestation(More)
OBJECTIVE We sought to assess the role of ultrasound in the prenatal characterization of fetal malformations of the upper extremities (MUE). STUDY DESIGN Ultrasound findings, associated anomalies, pregnancy, and fetoneonatal outcome were analyzed in 100 fetuses with MUE, categorized after Swanson classification of hand congenital abnormalities. Follow-up(More)
OBJECTIVE Coronary arterial abnormalities can be one of the few negative prognostic indicators in transposition of the great arteries (TGA), and their occurrence is related to the type of spatial relationship of the great arteries. The main objective of this study was to assess whether the use of the reconstructed en-face view with color Doppler imaging of(More)
OBJECTIVE To assess the diagnostic role of four-dimensional ultrasound using spatiotemporal image correlation and Sonography-based Automated Volume Count (STIC-SonoAVC) in the identification of the morphology of the atrial appendages in cases with cardiosplenic syndrome. METHODS This was a retrospective investigation of 22 fetuses with cardiosplenic(More)
We describe an unusual case of left ventricle-left coronary artery-pulmonary artery fistula associated with hypoplastic left heart syndrome (HLHS) and a ventricular septal defect, in which findings on echocardiography and histological analysis were correlated. The diagnosis was made at 22 weeks of gestation. We speculated that the presence of the fistula(More)
OBJECTIVE To assess the accuracy of expert neurosonography (two- and three-dimensional NSG) in the characterization of major fetal central nervous system (CNS) anomalies seen at a tertiary referral center and to report the differential clinical usefulness of magnetic resonance imaging (MRI) used as a second-line diagnostic procedure in the same cohort. (More)
OBJECTIVE To assess whether medically qualified sonologists with low-to-intermediate scanning experience are able to detect major abnormalities of the outflow tracts by reviewing the A-plane of cardiac volume datasets acquired with spatiotemporal image correlation (STIC). METHODS Fourteen sonologists of low-to-intermediate scanning experience were(More)
OBJECTIVES To review the normal and pathological development of the posterior membranous area (PMA) in the fetal brain, to define sonographic criteria with which to diagnose a Blake's pouch cyst (BPC) in the fetus and to review the ultrasound features, associations and outcome of 19 cases of BPC seen at our center over the last 5 years. METHODS We(More)
Femoral hypoplasia-unusual facies syndrome (FHUFS) is a rare condition characterized by a variable degree of unilateral or bilateral femoral hypoplasia associated with facial clefting and other minor malformations. The prenatal diagnosis of this condition is possible, but so far has been reported prospectively in only two cases. We review all cases of FHUFS(More)
Constriction band syndrome represents a sporadic condition that may result in amputations, constrictions and other deformities of the fetal limbs and body. Prenatal diagnosis by two-dimensional ultrasound has been reported. We present a case of constriction band involving the upper arm in which the assessment by three-dimensional ultrasound significantly(More)