The 'Brain Shadowing Sign': A Novel Marker of Fetal Craniosynostosis.

Introduction: The prenatal diagnosis of fetal craniosynostosis is challenging, especially in single-suture cases. When sutures are obliterated, sound waves fail to penetrate the cortical bone, creating an evident acoustic shadow on the underlying brain. The objective of this study was to evaluate the yield of the 'brain shadowing sign' (BSS) as a novel sonographic marker for craniosynostosis.

Prenatal diagnosis of a fetus with ring chromosomal 15 by two- and three-dimensional ultrasonography.

We report on a prenatal diagnosis of ring chromosome 15 in a fetus with left congenital diaphragmatic hernia (CDH) and severe intrauterine growth restriction (IUGR). A 31-year-old woman, gravida 2 para 1, was referred because of increased nuchal translucency at gestational age of 13 weeks. Comprehensive fetal ultrasound examination was performed at 19 weeks revealing an early onset IUGR, left CDH with liver herniation, and hypoplastic nasal bone.

Prenatal diagnosis of treacher-collins syndrome using three-dimensional ultrasonography and differential diagnosis with other acrofacial dysostosis syndromes.

Treacher-Collins syndrome (TCS) is a rare dominant autosomal anomaly resulting from malformation or disruption of the development of the first and second branchial arches. It is characterized by micrognathia, malar hypoplasia, and malformations of the eyes and ears. The prenatal diagnosis using two-dimensional ultrasonography (2DUS) is characterized by identification of facial malformations together with polyhydramnios.

Prenatal diagnosis of a large epignathus teratoma using two-dimensional and three-dimensional ultrasound: correlation with pathological findings.

Epignathus teratomas are rare tumors that originate in the region of the palate or pharynx and are known as Rathke pouch. They may be associated with other malformations such as a cleft palate and bifid tongue or nose. The prenatal diagnosis can be established by two-dimensional ultrasonography showing a heterogeneous mass protruding through the mouth of the fetus.

[Analysis of the combined first trimester screening for chromosomal abnormalities].

Purpose: to evaluate the performance of the combined first trimester screening for chromosomal abnormalities in a group of the Brazilian population.

Methods: a retrospective study including pregnant women with single fetuses referred to a fetal medicine center to perform the first trimester screening that combines maternal age, nuchal translucency measurement and two maternal serum biochemical markers: free B-hCG and PAPP-A. To evaluate the performance of the test, the detection rate, specificity, negative and positive predicted values and false-positive rates were calculated, considering as high risk the cut-off value above 1 in 300.

Laser for the treatment of twin to twin transfusion syndrome.

Purpose: To report the initial experience in our country with a new technique for twin to twin transfusion syndrome (TTTS) treatment, using laser to coagulate the placental vessels responsible for the twin transfusion during gestation.

Methods: Prospective study of eight cases diagnosed with TTTS evaluated in our service from january 2001 to june 2005. Through percutaneous introduction of a 2,0mm diameter fetoscope in the uterine cavity, placental surface vessels where directly visualized.