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. We present a male fetus with meningoencephalocele, multicystic renal dysplasia, congenital liver fibrosis, and other anomalies. Standard cytogenetic examination of cultured fetal skin and muscle fibroblasts showed mosaic trisomy 17. Homozygous deletion in CC2D2A gene was found by Sanger sequencing. This is to our knowledge the first case of genetically confirmed Meckel-Gruber syndrome with incidental cofinding of mosaic trisomy 17. Abnormal karyotype does not exclude diagnosis of MKS with risk of recurrence 25% in next pregnancy. In the case of anomalies typical for Meckel-Gruber syndrome, genetic analysis is indicated.

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. So far, only a few reports of fetal goitrous hypothyroidism have been published and no consensus on adequate management exists. We present a case of severe fetal goitrous hypothyroidism diagnosed at 23 gestational weeks treated by sequential intra-amniotic administration of L-thyroxin. Treatment resulted in significant goiter reduction and normalization of amniotic hormone levels, and enabled uncomplicated vaginal delivery at term. Current knowledge regarding prenatal diagnosis and intrauterine treatment were unified and applied within this case and a recommendation for clinical practice is provided in this report.

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. OBJECTIVE: To evaluate how ultrasound techniques, when possibly available, may improve management and counseling when conjoined twins are confirmed. MATERIAL AND METHODS: The authors report two different cases of union of two equal twins with sole umbilical cord. RESULTS: The two cases presented with non contributive medical history and no prior teratogen exposure and an unfavorable prognosis. Early discovery of viable conjoined twins permits assessment of the best route of delivery and a planning for serial sonography and fast MRI to plan eventual separation surgery or fetus after-birth surviving possibilities.

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. This presentation shows the normal sonographic sections and then variations of these sections and the associated anomalies. We used illustrative drawings to present these findings, enabling us to point out the main sonographic features of abnormalities of the heart. RESULTS: The work reviews 7 fetal heart abnormalities in schematic drawings. CONCLUSIONS: This short review highlights several of the anomalies that can be recognized on the common sonographic views. The drawings tend to simplify the findings but should serve as a basis for those doing fetal echocardiography when they encounter an unusual finding.

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. We used illustrative drawings to present these findings, enabling us to point out the main sonographic features of abnormalities of the heart. RESULTS: This work reviews 21 fetal heart abnormalities in schematic drawings. CONCLUSIONS: This short review highlights several of the anomalies that can be recognized on the common sonographic views. The drawings tend to simplify the findings but should serve as a basis for those doing fetal echocardiography when they encounter an unusual finding.

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. We used illustrative drawings to present these findings, enabling us to point out the main sonographic features of abnormalities of the heart. RESULTS: This work reviews 4 fetal abnormalities in schematic drawings. CONCLUSIONS: This short review highlights several of the anomalies that can be recognized on the common sonographic views. The drawings tend to simplify the findings but should serve as a basis for those doing fetal echocardiography when they encounter an unusual finding.

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. We used illustrative drawings to present these findings, enabling us to point out the main sonographic features of abnormalities of the heart. RESULTS: The work reviews 17 fetal heart abnormalities in schematic drawings. CONCLUSIONS: This short review highlights several of the anomalies that can be recognized on the common sonographic views. The drawings tend to simplify the findings but serve as a basis for those doing fetal echocardiography when they encounter an unusual finding.