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We report a case of a singleton hydrops pregnancy with placental gross and microscopic features between partial hydatidiform mole (PHM) and placental mesenchymal dysplasia (PMD) in a diploid live fetus. Pregnancy was complicated by early onset of growth restriction and pre-eclampsia. A female newborn was born at 29 weeks with no congenital malformations. Histology of the placenta revealed mixed phenotype of PMD and PHM, and genetic test results were normal.

Fibular aplasia-tibial campomelia-oligosyndactyly also known as FATCO syndrome is a rare condition characterized by fibular aplasia, shortening and anterior bowing of the lower limb at the tibia with overlying soft tissue dimpling and oligosyndactyly. Its etiology is currently unknown, but there is a male predominance. There are less than 30 cases reported in the literature but only three with prenatal diagnosis. We report two cases of FATCO syndrome with prenatal lower limb malformation diagnosis. Identification of the ultrasound findings of this condition in the prenatal stages allows an adequate parental counselling regarding the clinical features, prognosis, and potential treatments.

We report a case of mild frontonasal dysplasia, a complex and rare malformation affecting the central portion of the face, especially the eyes, nose, and forehead, which was diagnosed at 20 weeks of gestation. The diagnosis was made by two- and four-dimensional ultrasound and confirmed at autopsy after pregnancy termination. A review of the literature is presented.

Encephalocele is a rare congenital form of neural tube defect characterized by a protrusion of the meninges and cerebral tissue through a skull defect. These defects are classified according to their location: frontal, parietal and occipital, the last one being the most common form of presentation. The prognosis is related to the anatomical site, the volume of the neural contents and the presence of coexisting abnormalities. Most pregnancies are terminated, since the prognosis is poor. We report a case of an isolated fetal frontal encephalocele diagnosed at 21 weeks of gestation.