Artifacts and main lesions in fetal ocular histology.

Histological artifacts in fetal eyes can involve different tissues and can be related to mechanical or autolytic lesions, fixation, the cause of death or the cutting technique. Knowing the causes, effects and appearance of artifacts allow the minimization of the risk of avoidable artifacts and help distinguish them from "true" pathological lesions. We describe these different types of artifacts and specifically analyze their involvement in different tissue structures of the eye.

Case report: Antenatal diagnostic of a polymalformative syndrome due to biallelic BRCA2 mutations.

Testing the partner of a BRCA2 carrier must always be discussed. If both members of the couple are BRCA2 carriers, they should be informed about the high risks of polymalformative syndromes.

Expanding the genotypic and phenotypic spectrum of severe serine biosynthesis disorders.

Serine biosynthesis disorders comprise a spectrum of very rare autosomal recessive inborn errors of metabolism with wide phenotypic variability. Neu-Laxova syndrome represents the most severe expression and is characterized by multiple congenital anomalies and pre- or perinatal lethality. Here, we present the mutation spectrum and a detailed phenotypic analysis in 15 unrelated families with severe types of serine biosynthesis disorders.

Finding vacuolated lymphocytes in fetal effusions improves the prenatal diagnosis of lysosomal storage diseases.

Objectives: There are many causes of fetal effusions, including the rare lysosomal storage diseases (LSDs). Vacuolated lymphocytes (VLs) are found in the blood of infants with LSDs, and their presence in fetal effusion could increase the risk of underlying LSD.

Methods: Between 2006 and 2018, all fetal effusions samples from 43 fetal multidisciplinary centers were referred to a single laboratory.