Prenatal diagnosis and postnatal outcome of pelvic kidneys

Objective To assess the prevalence of pelvic kidneys during prenatal sonographic examinations in the second and third trimesters and to examine postnatal outcome

Fetal cerebellar hemorrhage in a severely growth-restricted fetus: natural history and differential diagnosis from Dandy-Walker malformation

This is a report of an intracerebellar hemorrhage in a severely growth-restricted fetus with pathological Doppler findings of the fetal and uteroplacental circulations. The diagnosis was made sonographically at 22 weeks of gestation and the natural course of the hemorrhage was followed. Interestingly, the final sonographic appearance of the posterior fossa was quite similar to that of the classic form of Dandy-Walker malformation: absence of the vermis and an enlarged fourth ventricle. However, careful sonographic examination showed that the enlargement of the fourth ventricle was actually caused by a porencephalic cystic lesion of the left cerebellar lobe. Pathological examination revealed complete absence of the vermis and cerebellar hypoplasia. Copyright (C) 2003 ISUOG

Sonographic findings of fetuses with an empty renal fossa and normal amniotic fluid volume

Objective: To review the antenatal sonographic findings and postnatal follow-up of fetuses with empty renal fossa (ERF) and normal amniotic fluid volume. Methods: Sonographic examinations of 13,705 fetuses were retrospectively analyzed and all fetuses with at least one ERF and normal antenatal amniotic fluid volume were included in this study. Results: Forty cases with antenatal ERF were diagnosed. Prenatal diagnosis consisted of pelvic kidney (n = 24), unilateral renal agenesis (n = 13), horseshoe kidney (n = 2) and crossed fused renal ectopia (n = 1). The prevalence of ERF in the low-risk population approximated 3.2%. There was no serious renal complication during a mean follow-up period of 30 months except one case of crossed fused renal ectopia requiring hemodialysis. Conclusion: The underlying cause of ERF in the majority of cases with normal amniotic fluid volume is renal ectopia. Prenatal ultrasonography seems to be highly reliable in diagnosing these anomalies. Prognosis is favorable in the absence of additional extraurinary malformations. Copyright (C) 2004 S. Karger AG, Basel

Is Complete Umbilical Cord Scanning Possible at the Second-Trimester Ultrasound Scan?

PurposeTo evaluate the feasibility of umbilical cord scanning during the second-trimester sonographic examination, we looked at the method of scanning, the findings, and the time spent

Short femurs detected at 25 and 31 weeks of gestation diagnosed as Leroy I-cell disease in the postnatal period: A report of two cases

Leroy I-cell disease is a rare autosomal recessive lysosomal storage disorder characterized by marked psychomotor and growth retardation, skeletal anomalies, and typical facial features. There is a biochemical defect in uridine diphospho-N-acetylglucosamine-1-phosphotransferase, which is the enzyme responsible for addition of a mannose phosphate residue for lysosomal trafficking. Prenatal diagnosis is possible by analysis of enzyme activity in chorionic villi or cultured amniocytes, but this is offered to families only known to be at increased risk. We describe two cases that had bilateral shortness of the femurs at 25 and 31 weeks of gestation in the ultrasound scan and were diagnosed as Leroy I-cell disease by plasma enzyme analysis in the postnatal period. There was also bowing of the femurs in one case. None of the two families had a history of Leroy I-cell disease. The parents of one case were second-degree cousins. In view of these two cases that are presented, we propose that Leroy I-cell disease should be included in the differential diagnosis of short femurs even when there is no evident family history. Copyright (c) 2007 S. Karger AG, Basel

Prenatal diagnosis of isolated macrodactyly

Congenital enlargement of one or several digits of the hands or feet, known as macrodactyly, is a rare malformation. True macrodactyly, characterized by overgrowth of all mesenchymal elements, must be differentiated from that due to tumorous enlargement of a single element, as in hemangioma, lymphangioma or enchondroma. Furthermore, macrodactyly may be isolated, but it can also be associated with several syndromes. Here we present a case of prenatally diagnosed isolated true macrodactyly of the second toe of the left foot at 24 weeks of gestation, and discuss the key points in its differential diagnosis and management. Copyright (c) 2009 ISUOG. Published by John Wiley & Sons, Ltd

Left Diaphragmatic Eventration Associated with Ipsilateral Pulmonary Sequestration and Intrathoracic Kidney in a Fetus: Reviewing the Prenatal Diagnosis and Etiopathogenesis

The prenatal diagnosis of congenital diaphragmatic eventration, pulmonary extralobar sequestration and intrathoracic ectopic kidney in a single fetus is not reported yet according to the pubmed. Congenital diaphragmatic eventration is an abnormal elevation of the diaphragm. Differential diagnosis from hernia is essential for the perinatal management. Extralobar sequestrations are usually asymptomatic and detected incidentally. Intrathoracic kidney is an extremely rare congenital anomaly. Genitourinary and cardiac anomalies should be searched as commonco-existing malformations. Besides prenatal ultrasound, fetal magnetic resonance imaging has a substantial support in counselling the family, planning the follow-up of the pregnancy and decision-making for the perinatal management

Prenatal diagnosis of diastematomyelia: presentation of eight cases and review of the literature

Objectives Diastematomyelia is a rare form of spinal dysraphism. We present eight cases of diastematomyelia diagnosed prenatally in our institution as well as a review of the literature in order to determine the prognosis of isolated cases of this very unusual condition