Earlier, Sequenom Announces Publication of Study Manuscript on Noninvasive Detection of Fetal RHD Genotyping in Maternal Plasma

Earlier, Sequenom SQNM today announced the acceptance for publication of the manuscript titled, "Fetal RHD Genotype Detection from Circulating Cell-Free Fetal DNA in Maternal Plasma in Non-Sensitized RhD Negative Women." The article is currently available online and will appear in the next issue of Prenatal Diagnosis. The study, conducted by the company's wholly-owned subsidiary, Sequenom Center for Molecular Medicine (Sequenom CMM), evaluated the performance of the SensiGene® Fetal RHD Genotyping Laboratory Developed Test (RHD Genotyping LDT) using circulating cell-free fetal DNA (ccff DNA) extracted from maternal blood plasma. Results showed that fetal RHD genotyping can be accurately determined using ccff DNA in the first and second trimester of pregnancy. The study was performed using two cohorts, a first trimester serotype reference group of 207 cases obtained from the Fetal Medicine Foundation in London, England and a combined first and second trimester genotype reference group of 199 patients. The serotype cohort had a test accuracy of 97.1% (sensitivity of 97.2%; specificity of 96.8%) and the genotype reference cohort had a test accuracy rate of 99.5% (sensitivity of 100.0%; specificity of 98.3%). "This study demonstrates that the SensiGene Fetal RHD Genotyping LDT using MALDI-TOF mass spectroscopy is effective in the detection of specific RHD gene exons in maternal blood plasma with a high degree of accuracy during the early stages of pregnancy," said Dr. Allan T. Bombard, Chief Medical Officer of Sequenom, Inc. "It also demonstrates that the presence of fetal DNA can be determined in the instance of an RHD negative female fetus in a mother who is also RhD negative phenotypically."