Scientists from the University of Hong Kong have shown that fetal gene activity can be determined from RNA from amniotic fluid. The research was published in the journal npj Genomic Medicine.
While the odds of having a single inherited disease are usually low, together they can have a huge impact on the health of the population. So, this or that rare hereditary disease is found in one of Hong Kong’s 67 residents.
Modern prenatal diagnostic technologies rely heavily on DNA analysis, but most diseases (60-70%) remain undiagnosed. Recently, RNA sequencing has been shown to increase the diagnostic value by 10-36%, but none of these studies focused on prenatal diagnosis.
The scientists collected amniotic fluid cells from more than 50 women at 16-24 weeks of pregnancy. They were used for RNA sequencing – this method allows you to evaluate not only the presence of mutations, but also the activity of genes. The researchers showed that this experiment could be an affordable and more accurate alternative to DNA analysis.