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The objective of our study is to describe the sonographic findings of an extremely rare pathology. We therefore present two case reports of prenatal diagnosis of fetus-in-fetu (FIF) with a review of the literature. FIF is a benign disorder, unlike the teratoma with which often enter into the differential diagnosis, localized in most cases in the retroperitoneal space. Prenatal diagnosis is based mainly on ultrasound and radiological characteristics. The treatment of choice is surgical excision. The importance of prenatal diagnosis of fetus-in-fetu and the effect on subsequent management are described.

BackgroundFowler syndrome is a rare autosomal recessive disorder characterized by hydranencephaly–hydrocephaly and multiple pterygium due to fetal akinesia. To date, around 45 cases from 27 families have been reported, and the pathogenic bi‐allelic mutations in FLVCR2 gene described in 15 families. The pathogenesis of this condition has not been fully elucidated so far.MethodsWe report on an additional family with two affected fetuses carrying a novel homozygous mutation in FLVCR2 gene, and describe the impact of known mutants on the protein structural and functional impairment.ResultsThe present report confirms the genetic homogeneity of Fowler syndrome and describes a new FLVCR2 mutation affecting the protein function. The structural analysis of the present and previously published FLVCR2 mutations supports the hypothesis of a reduced heme import as the underlying disease's mechanism due to the stabilization of the occluded conformation or a protein misfolding.ConclusionOur data suggest the hypothesis of heme deficiency as the major pathogenic mechanism of Fowler syndrome.

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To provide 2-dimensional ultrasonographic (2D-US) normograms of cerebellar vermis biometry, as well as to evaluate the feasibility and the reproducibility of these measurements in clinical practice. A prospective cross-sectional study of 328 normal singleton pregnancies between 18 and 33 weeks of gestation. Measurements of the fetal cerebellar vermis circumference (VC) in the mid-sagittal plane were performed by both a senior and a junior operator using 2D-US. VC as a function of gestational age (GA) was expressed by regression equations. In 24 fetuses 3-dimensional (3D) reconstructed planes were obtained in order to allow comparisons with 2D-US measurements. The agreement between 2D and 3D measurements and the interobserver variability were assessed by interclass correlation coefficients (ICC). Satisfactory vermis measurements could be obtained in 89.9% of cases. The VC (constant= - 12.21; slope=2.447; r=0.887, p<0.0001) correlated linearly with GA. A high degree of consistency was observed between 2D and 3D ultrasound measurements (ICC=0.846 95% CI 679-0.930) as well as between measurements obtained by different examiners (ICC=0.890 95% CI 989-0.945). 2-dimensional ultrasonographic measurements of cerebellar vermis throughout gestation in the mid-sagittal view seem to be feasible and reproducible enough to be potentially used in clinical practice. Such measurements may supply a tool for accurate identification of posterior fossa anomalies, providing the basis for proper counseling and management and of these conditions.

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