In utero ultrasound diagnosis of corpus callosum agenesis leading to the identification of orofaciodigital type 1 syndrome in female fetuses.

Background: OFD1 syndrome is a rare ciliopathy inherited on a dominant X-linked mode, typically lethal in males in the first or second trimester of pregnancy. It is characterized by oral cavity and digital anomalies possibly associated with cerebral and renal signs. Its prevalence is between 1/250,000 and 1/50,000 births.

Prenatal ultrasound screening: false positive soft markers may alter maternal representations and mother-infant interaction.

Background: In up to 5% of pregnancies, ultrasound screening detects a "soft marker" (SM) that places the foetus at risk for a severe abnormality. In most cases, prenatal diagnostic work-up rules out a severe defect. We aimed to study the effects of false positive SM on maternal emotional status, maternal representations of the infant, and mother-infant interaction.

Vaginal delivery using cranioclasia following prenatal diagnosis of a giant fetal intracranial teratoma.

Intracranial teratoma, although a rare disease, is nonetheless the most common of the congenital tumors of the central nervous system in the neonatal period. It can be diagnosed antenatally by ultrasound. The prognosis for fetal forms of teratoma is very grim.