Rapid functional RNA Analysis via amniocyte transdifferentiation resolves prenatal variant ambiguity in fetal akinesia syndrome

Fetal akinesia syndrome (FAS) is genetically heterogeneous and is linked mainly to pathogenic variants in muscle-specific genes1,2; yet, expanding gene catalogs and variants of uncertain significance (VUS) complicate clinical interpretation. Current guidelines and research recommend functional RNA analysis to resolve splicing variants missed by DNA sequencing alone for VUS.3,4 Recently, studies have been conducted on the transdifferentiation of patient dermal fibroblasts to obtain the RNA of silent disease genes for variant assessment.