Cloacal dysgenesis sequence (CDS) is a lethal and rare congenital malformation; usually requiring termination of gestation. As prenatal ultrasonography remains a method with doubtable results, we used Fetal Magnetic Resonance Urography (FMRU) for the evaluation of a fetus at 18 weeks of gestation, suspected to cloacal anomalies. Prenatal imaging of the patient; showed smooth perineum, bilateral...

Aim: The present study was conducted to evaluate the most common indications for fetal echocardiography in a tertiary-care fetal echocardiography practice. Methods: A retrospective analysis (July 2005 to July 2006) of all pregnant women referred by obstetricians or fetomaternal sonographers to a pediatric cardiology unit for fetal echocardiography over a 1-year period was performed .The study w...

Syrenomelia sequence is a rare (incidence of 1: 60000 births) [1,2] lethal pattern of congenital anomalies characterized by a number of hallmark skeletal anomalies including fusion of the lower extremities or a single lower limb, bilateral renal agenesis or dysgenesis with absent or hypoplastic renal arteries, oligohydramnios and the presence of aberrant vasculature. Prenatal sonographic detect...

Encephalocystocele is a developmental malformation characterized by brain herniation accompanied with extracranial cystic protrusion of the ventricular system. This nosological unit is often overlooked and insufficiently classified merely as encephalocele. Herein, two exceptionally clear cases of the parieto-occipital cranioschisis with encephalocystocele and congenital hydrocephalus of the lat...

We describe a female stillbirth with duplication of 3q21-->qter and deletion of 11q23-->qter resulting from an unbalanced segregation of a maternal t(3;11) reciprocal translocation. The proband had some of the clinical features consistent with those seen in patients with dup(3q) syndrome or distal del(11q) syndrome. Prenatal sonographic examination showed short limbs, intrauterine growth retard...

We report a case of anterior hypospadias, diagnosed at 26th week in a 37 years-old primigravida with normal 46XY kariotype through amniocentesis carried out at 16th week. Sonographic examination with 2D showed a short and curved penis. The use of three orthogonal planes, Tomographic Ultrasound Image (TUI) and VOCAL allowed an exact prenatal diagnostic, showing the "tulip" sign and defining loca...