15Aug 2021
Clinical and molecular data in case of prenatal localized overgrowth disorders: major implication of genetic variants in the PI3K‐AKT‐mTOR signaling pathway

Clinical and molecular data in case of prenatal localized overgrowth disorders: major implication of genetic variants in the PI3K‐AKT‐mTOR signaling pathway

To describe clinical and molecular findings in fetuses with localized overgrowth disorders (LOD) involving the brain (BO) and/or a limb (LO) diagnosed on prenatal imaging (ultrasonography or MRI), suggesting involvement of the PI3K‐AKT‐mTOR signaling pathway. We retrospectively analyzed data from 21 fetuses with BO and/or LO referred for next‐generation sequencing (NGS) molecular diagnosis of PI3K‐AKT‐mTOR pathway genes on affected tissue obtained on fetal autopsy. We assessed the diagnostic yield on amniotic fluid...

  • #gynaecology - ivf

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