A novel <i>KDM6A</i> c.2429dup mutation causing kabuki syndrome type 2 identified in a fetus with increased nuchal translucency

The fetus was diagnosed with X-linked dominant KS2. The identification of this novel frameshift variant, together with the first report of increased NT as a prenatal feature, enriched both the mutation spectrum and prenatal phenotypic spectrum of KS2. These findings underscore the diagnostic utility of ES for fetuses with increased NT, especially when CMA yields normal results.