Sequenom Center for Molecular Medicine® (Sequenom CMM) is developing a comprehensive portfolio of tests on a high performance mass spectrometer genetic analysis platform combined with Sequenom's SEQureDx™ technology. Utilizing these technologies allows us to efficiently and precisely measure trace amounts of circulating cell-free fetal (ccff) genetic target material. We are launching noninvasive prenatal testing methods that we expect will provide accurate and informative direct genetic information to health care providers for advanced management of both routine or at risk pregnancies.
Fetal Nucleic Acids
Since the demonstration of ccff DNA in maternal plasma in the late 90's, many studies have been undertaken to establish the clinical utility of this methodology in noninvasive prenatal tests. Compared to testing intact fetal cells isolated from maternal blood, there are significant advantages to testing ccff DNA in maternal plasma.
- There are sufficient quantities of ccff DNA in pregnancy to develop prenatal diagnostic tests for routine testing.1
- The turnover of circulating fetal DNA has been studied and appears to be quite rapid. In most women, circulating fetal DNA is undetectable by 2 hours postpartum, and the mean half life is estimated to be 16.3 minutes (4-30 minute range). This means there is little risk of interference of DNA from previous pregnancies.2
- ccff DNA reportedly can be detected routinely at 12 weeks, showing promise for noninvasive fetal DNA tests in the 1st trimester.3
These unique characteristics of ccff DNA provide assurance of rapid, reliable and reproducible noninvasive prenatal tests that can be easily carried out for a large number of samples.
Sequenom CMM's Commitment
The full diagnostic application of ccff nucleic acids are yet to be realized.
By applying our breakthrough technology to frequently encountered diagnostics challenges in pregnancy and reproduction, Sequenom CMM believes it can provide advanced tools to assist woman, their families and their health care providers in achieving the best pregnancy outcomes.
- Lo YMD, Corbetta N, Chamberlain PF, Rai V, Sargent, IL., Redman CW (1997)."Presence of fetal DNA in maternal plasma and serum." Lancet 350:485–7.
- Lo YMD, Zhang J, Leung TN, Lau TK, Chang AM, Hjelm NM(1999). "Rapid clearance of fetal DNA from maternal plasma." Am J Hum Genet 64:218–24.
- BIANCHI, D.W. (2004). "Circulating fetal DNA: its origin and diagnostic potential-A Review." Placenta 25, Supplement A. Trophoblast Research, Vol. 18, S93–S101.