Implementation of fetal clinical exome sequencing: Comparing prospective and retrospective cohorts.

Purpose: We compared the diagnostic yield of fetal clinical exome sequencing (fCES) in prospective and retrospective cohorts of pregnancies presenting with anomalies detected using ultrasound. We evaluated factors that led to a higher diagnostic efficiency, such as phenotypic category, clinical characterization, and variant analysis strategy.

Methods: fCES was performed for 303 fetuses (183 ongoing and 120 ended pregnancies, in which chromosomal abnormalities had been excluded) using a trio/duo-based approach and a multistep variant analysis strategy.

Prepubertal Vulvar Fibroma: Neoplasm or Physiological Condition?

Background: Several authors have previously reconsidered vulvar fibroma, a rare prepubertal neoplasm, as a physiological labial asymmetry of early puberty, recommending a conservative approach for all cases, although some required further clarification.

Case: A fibrous mass found in the left labium majus of a 4-year-old girl was surgically removed. Imaging confirmed a relapse after 10 months and a second surgery was performed due to extremely rapid growth.

Fetal kidneys: additional sonographic criteria of normal development.

Objective: The aim of this study was to establish objective criteria for the evaluation of cortical echogenicity (CE), cortical thickness (CT), and medullary thickness (MT), as well as the corticomedullary ratio (CMR), throughout gestation.

Method: In this prospective single-center study, CE, MT, CT, and CMR were evaluated in a group of singleton pregnancies examined by ultrasound during the second and third trimesters.

Results: The CE evolved from a hyperechoic pattern compared with the liver or spleen during early second trimester to a hypoechogenic pattern in the third trimester, with no fetus displaying cortical hyperechogenicity after 32 weeks.

Atypical presentation of a Langerhan's cell histiocytosis of the forearm in a child.

We report a case of a 2-year-old child presenting with right forearm pain. Based on imaging analysis, the initial diagnosis was osteomyelitis but the final diagnosis demonstrated by histology was Eosinophilic Granuloma (EG) of the forearm. We detail the rare radiological presentation of such a lesion, the various clinical presentations and the work-up advised in this context.

Antenatal diagnosis of a sacrococcygeal teratoma.

Although rare, sacrococcygeal teratoma is the most common congenital tumor. We report a case of a precociously diagnosed and rapidly growing cystic lesion. These tumors may be associated with hemodynamic and hemorrhagic complications.