The First Reported Case of Meckel-Gruber Syndrome Associated With Abnormal Karyotype Mosaic Trisomy 17.

Meckel-Gruber syndrome (MKS) is a rare lethal autosomal recessive disorder with typical anomalies including encephalocele, multicystic renal dysplasia, congenital liver fibrosis, and polydactyly. MKS is caused by mutations of genes localized on different chromosomes. Karyotypes of published Meckel-Gruber syndrome cases are without any aberrations.

Prenatal diagnosis and successful intrauterine treatment of severe congenital hypothyroidism associated with fetal goiter.

Congenital hypothyroidism with fetal goiter is a rare condition associated with severe, but possibly preventable, intrauterine and postnatal complications. Ultrasound examination after 20 weeks of pregnancy enables prenatal diagnosis and early treatment. Due to limited transplacental transport of thyroid hormones, direct intrauterine treatment is needed.

Conjoined twins: what ultrasound may add to management.

Introduction: Conjoined twins occur in approximately 0.2:10,000 births; the obstetrician and sonographer only rarely examine them. In Western countries, discovery of conjoined twins is often made by the end of the first trimester; however, in the third world, conjoined twins are often discovered only at birth.

A review of findings in fetal cardiac section drawings: part 4: sagittal and parasagittal views.

Objective: The goal of this presentation is to review some of the common and rare fetal heart abnormalities and to provide an easy approach to these findings with schematic drawings. In this presentation, we limit the scope to the sagittal and parasagittal sections.

Methods: Over the past 10 years, we collected cases in which the common views of the heart were abnormal and the differential diagnoses that existed for each.

A review of findings in fetal cardiac section drawings. Part 3: the 3-vessel-trachea view and variants.

Objective: The goal of this presentation is to review some of the common and rare fetal heart abnormalities and to provide an easy approach to these findings with the schematic drawings.

Methods: Over the past 10 years, we collected cases in which the common views of the heart were abnormal and the differential diagnoses that existed for each. This presentation shows the normal sonographic sections and then variations of these sections and the associated anomalies.

A review of findings in fetal cardiac section drawings, Part 2: high abdominal views.

Objective: The goal of this presentation is to review some of the common and rare fetal heart abnormalities and to provide an easy approach to these findings with schematic drawings.

Methods: Over the past 10 years, we collected cases in which the common views of the heart were abnormal and the differential diagnoses that existed for each. This presentation shows the normal sonographic sections and then variations of these sections and the associated anomalies.

A review of findings in fetal cardiac section drawings, part 1: The 4-chamber view.

Objectives: The goal of this presentation is to review some of the common and rare fetal heart abnormalities and to provide an easy approach to these findings with schematic drawings.

Methods: Over the past 10 years, we collected cases in which the common views of the heart were abnormal and the differential diagnoses that existed for each. The presentation shows the normal sonographic sections and then variations of these sections and the associated anomalies.