A new Non-Invasive Prenatal Diagnosis for Down Syndrome

Maternal DNA blood test during pregnancy can provide a safer and more effective prenatal diagnosis for Down syndrome

For the Press Release, press here.

The scientific publication can be found on the webiste of Nature Medicine: http://dx.doi.org/10.1038/nm.2312


Schematic illustration of the approach towards the non-invasive prenatal diagnosis of trisomy 21. The success of the diagnostic test relies on the identification of epigenetic markers on chromosome 21, which are hypermethylated in the fetal DNA and hypomethylated in the maternal DNA. The fetus with trisomy 21 has an extra copy of the fetal-specific methylated region compared to the normal fetus. DNA methylation enrichment will increase the amount of hypermethylated fetal DNA. Then real-time qPCR of a fetal-specific methylated region can lead to quantification of its copy numbers and therefore discrimination of trisomy 21 pregnancies from normal pregnancies.

For more information on NIPD Genetics Ltd activities press here.