Massingham et al. utilized global gene expression analysis to interrogate the cell-free mRNA transcriptome from amniotic fluid supernatants of fetuses with Turner syndrome to understand pathophysiologic changes that are already present during the second trimester of gestation. Amniotic fluid supernatant samples were collected from women undergoing genetic testing for routine clinical indications at 15–18 weeks of gestation.

Tissue Condition Samples
Test amniotic fluid Turner syndrome fetus 5
Control amniotic fluid normal euploid fetus 5
Gene Fold Change (log2) Significance Genus Species