Towards a Better Molecular Diagnosis of FMR1-Related Disorders-A Multiyear Experience from a Reference Lab.

The article summarizes over 20 years of experience of a reference lab in fragile X mental retardation 1 gene (FMR1) molecular analysis in the molecular diagnosis of fragile X spectrum disorders. This includes fragile X syndrome (FXS), fragile X-associated primary ovarian insufficiency (FXPOI) and fragile X-associated tremor/ataxia syndrome (FXTAS), which are three different clinical conditions with the same molecular background. They are all associated with an expansion of CGG repeats in the 5'UTR of FMR1 gene.

[Non-invasive genetic prenatal diagnosis. Analysis of nucleic acids of foetal origin present in maternal vascular system].

Prenatal diagnosis is an important element of health care in pregnant women. Until now, prenatal testing of genetically determined diseases was invasive. Identification in maternal plasma of cell-free fetal nucleic acids (cffNA) has created new opportunities, and gave rise to genetic non-invasive prenatal diagnosis (NIPD).