Prenatal ultrasonography at 24 weeks disclosed a fetus with a large mass protruding from the occiput. The mass was an invasive, undifferentiated mesenchymal neoplasm of the scalp associated with a defect in the occipital bone (cranium bifidum). The tumor may have derived from neural crest at the site of rhombencephalic closure. The tumor itself would seem to be a sporadic event, but the cranium...

Choledochal cyst is a cystic or fusiform dilatation of the extra- or intrahepatic bile duct that has rarely been reported in prenatal cases. Here we report a fetus with choledochal cyst diagnosed prenatally by three-dimensional (3-D) ultrasonography at 22 weeks of gestation. We demonstrated an image of choledochal cyst by using a new ultrasound technique, a 3-D multislice view. After close intr...

1. Case description A 23-year-old nulliparous woman was referred for fetal level II sonography owing to abnormal ultrasound findings, including skeletal anomalies and oligohydramnios at 20 weeks of gestation. Detailed evaluation of the fetus was difficult due to the absence of amniotic fluid. Thus, we infused normal saline into the amniotic cavity after amniocentesis for fetal karyotyping and f...

Anorectal malformations (ARMs) of all (high and low) forms concern about 1/5000 births. Low form is difficult to diagnose prenatally. Isolated forms are rare; they are often present in the context of multiple malformation syndromes. From a rare case of prenatal diagnosis, ultrasound findings will be discussed as well as the role of three-dimensional ultrasonography (3D) nuclear magnetic resonan...

agnosis. Three-dimensional ultrasonography (3DUS) in rendering mode allows a better assessment of the fetal surface, contributing to a more comprehensive understanding of the malformation by the parents. Only one report of prenatal diagnosis of BWS by 3DUS is found in the literature. The authors present a case of BWS diagnosed by 2DUS at the 28th gestational week, and emphasize the main finding...

Achondrogenesis is a lethal congenital chondrodystrophy characterized by extreme micromelia, small thorax and polyhydramnios. We describe a case of achondrogenesis type II (Langer-Saldino achondrogenesis). Prenatal ultrasonography at 22-weeks gestation revealed a fetus with large head, short neck and chest, prominent abdomen and short limbs. Pregnancy was terminated. Radiologic examination of n...

Bladder exstrophy is a rare congenital anomaly, caused by abnormal development of the cloacal membrane. To our knowledge, 18 familial patients with this malformation have been described. Two sets of familial cases with bladder exstrophy are reported here: two cousins and a mother and son and the published reports of the 18 familial cases among 682 index patients with bladder exstrophy are revie...

The widespread use of prenatal ultrasound results in an increased recognition of fetal hydronephrosis. To determine clinical characteristics and postnatal outcome of fetal hydronephrosis, we performed a retrospective study in children diagnosed as having fetal hydronephrosis between 1990 and 2001. 341 children with 427 dilated kidneys were included. Dilatation of the renal pelvis was caused by ...

Club foot can be diagnosed by ultrasound of the fetus in more than 60% of cases. We have correlated the accuracy of the prenatal findings in 281 ultrasound surveys with the physical findings after birth and the subsequent treatment in 147 children who were born with club foot. The earliest week of gestation in which the condition was diagnosed with a high degree of confidence was the 12th and t...