Generation of IPi001-A/B/C human induced pluripotent stem cell lines from healthy amniotic fluid cells.

Human induced Pluripotent Stem Cells (hiPSCs) represent an invaluable source of primary cells to investigate development, establish cell and disease models, provide material for regenerative medicine and allow more physiological high-content screenings. Here, we generated three healthy hiPSC control lines - IPi001-A/B/C - from primary amniotic fluid cells (AFCs), an infrequently used source of cells, which can be readily obtained from amniocentesis for the prenatal diagnosis of numerous genetic disorders. These AFCs were reprogrammed by non-integrative viral transduction.

Expanding the phenotypic spectrum of LIG4 pathogenic variations: neuro-histopathological description of 4 fetuses with stenosis of the aqueduct.

Severe ventriculomegaly is a rare congenital brain defect, usually detected in utero, of poor neurodevelopmental prognosis. This ventricular enlargement can be the consequence of different mechanisms: either by a disruption of the cerebrospinal fluid circulation or abnormalities of its production/absorption. The aqueduct stenosis is one of the most frequent causes of obstructive ventriculomegaly, however, fewer than 10 genes have been linked to this condition and molecular bases remain often unknown.

Contribution of amniocentesis in fetuses small for gestational age without other sonographic signs.

Objective: Our study evaluated the contribution of amniocentesis in the diagnostic approach of small-for-gestational-age fetuses (SGA) without morphological abnormality identified on ultrasound by studying FISH (fluorescence in situ hybridization) for chromosomes 13, 18 and 21, CMV PCR (cytomegalovirus polymerase chain reaction), karyotype and CGH (genomic hybridization array) METHODS: Our single-center retrospective cohort study included pregnant women referred for prenatal diagnosis for a SGA fetus in whom amniocentesis was performed between 2016 and 2019. A SGA fetus was defined as a fetus with an estimated fetal weight (EFW) below the 10th percentile according to referral growth curves in use. We evaluated the number of amniocenteses with an abnormal result and identified factors that may be associated with this outcome.

Two novel variations p.(Ser1275Thr) and p.(Ser1275Arg) in FLT4 causing prenatal hereditary lymphedema type 1.

Background: Hereditary lymphedema 1 is a rare congenital condition, characterized by the development of chronic swelling in body parts. It is highly variable in expression and age of onset with different presentations: from feet edema to hydrops fetalis. This affection is genetically heterogeneous with autosomal dominant inheritance and incomplete penetrance due to a mutation in the FLT4 gene in most cases.