New Blood Test to Provide Safe, Early Prenatal Genetic Screening

A noninvasive blood test has been developed to enable safe early prenatal detection of fetal chromosome abnormalities such as in Down's syndrome as well as the more challenging detection of microdeletions.

Synapse Diagnostics (Hyderabad, India) now offers "Materni T21 PLUS", a highly accurate prenatal genetic blood test for specific chromosome conditions associated with birth defects. Conducted on blood collected from the mother as early as 10 weeks of pregnancy, genetic abnormalities in the fetus, such as Down's Syndrome and multiple other defects, can be detected early using accurate, cutting-edge technology – a state-of-the-art genomic DNA sequencing based test – providing a clear and precise result which can be easily interpreted. Materni T21 PLUS is the only test in the international market that detects not only abnormalities such as in Down's syndrome but also microdeletion type defects. Microdeletion type abnormalities are difficult to detect, such that parents and clinicians usually spend years after birth trying to diagnose them as underlying the child's symptoms. With this advanced test they can be detected early in pregnancy.

Dr. Samit Sekhar, Managing Director for Synapse Diagnostics India, commented, “Down’s syndrome is a naturally occurring chromosomal arrangement that has always been a part of the human condition, being universally present across racial, gender, or socioeconomic lines, and affecting approximately 1 in 800 live births, although there is considerable variation worldwide. Down's syndrome usually causes varying degrees of intellectual and physical disability in the baby and is associated with various other medical issues.”

The current, amniocentesis, test is not only performed late in pregnancy but is also invasive with a risk of miscarriage. Furthermore, in some cases it cannot definitively pick up the microdeletions. Materni T21 provides a noninvasive alternative for early screening that is safe for both mother and unborn child. With this technology doctors and parents can safely obtain accurate information very early, which also helps mitigate anxiety associated with more aggressive procedures or with the uncertainty of other blood tests that may give only probability-based results.

The Materni T21 Plus test is developed and validated by Sequenom Center for Molecular Medicine (Sequenom CMM), a CAP-accredited and CLIA-certified molecular diagnostics laboratory based in San Diego (CA, USA).

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