Cyprus-based molecular diagnostics startup NIPD Genetics has taken another key step toward commercializing its flagship assay, a noninvasive prenatal diagnostic test for Down syndrome.

The company published the findings of its most recent validation study for the test, which combines methylated DNA immunoprecipitation with quantitative real-time PCR, in the October issue of the journal Prenatal Diagnosis, reporting a sensitivity of 100 percent and specificity of 99.2 percent.

NIPD Genetics is now putting together an even larger validation study of 1,000 pregnant women from various European countries with an eye toward completing the trial and offering its assay as a genetic testing service in Europe next year, company officials said this week.

To that end, NIPD Genetics said it is also looking to raise up to 4 million (about $5.2 million) in a second round of equity financing.

NIPD Genetics, a spinout of the Cyprus Institute of Neurology and Genetics, published the first peer-reviewed study of its test in Nature Genetics in March 2011 (PCR Insider, 3/10/2011).

The test involves collecting 10 mL of peripheral blood from a pregnant woman, then isolating the DNA. This is followed by methylated DNA immunoprecipitation, or MeDiP, which uses an antibody specific for 5-methylcytidine to capture methylated sites and enrich for DNA regions that are specifically hypermethylated in the fetal DNA and hypomethylated in the maternal DNA.

After methylation enrichment of the fetal DNA in maternal circulation, the researchers use qRT-PCR to quantify the amount of fetal DNA in the test sample. By comparing the amount of fetal DNA present in an unknown sample to that of a control sample from a pregnant woman known to carry a normal fetus, the technique can quantify the extra copy of chromosome 21 and distinguish Down syndrome pregnancies from normal pregnancies.

In last year's Nature Genetics paper, the company used the method to correctly diagnose 14 cases of Down syndrome and 26 normal cases from maternal peripheral blood samples, achieving 100 percent sensitivity and specificity.

That test began with a group of 12 differentially methylated regions, or DMRs, that the group had identified, eventually yielding a diagnostic formula for eight of those 12 regions.

However, since that time the company dug further into the literature to discover that some of these DMRs are located on high copy number regions of the chromosome, which could have caused some difficulties in classification, Elisavet Papageorgiou, NIPD Genetics' CSO, told PCR Insider this week.

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Cyprus' NIPD Genetics Validates Updated Trisomy 21 Assay; Eyes 2013 Launch for Testing Services

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