Non-invasive prenatal sequencing test complements current prenatal screening for genetic diseases

Medical Xpress | January 29, 2019

In 2017, Baylor Genetics introduced the first clinical non-invasive prenatal multigene sequencing screen, PreSeek, to the commercial market. The Baylor College of Medicine and Baylor Genetics team that developed the technology has now released initial results of a clinical study evaluating its accuracy and utility. The study appears in Nature Medicine. Although traditional noninvasive prenatal screening tests detect genetic diseases associated with chromosomal abnormalities that increase in risk with advanced maternal age, PreSeek is the first noninvasive screening test in the United States to detect multiple dominant monogenic disorders that, although can occur at any time, become more prevalent with advanced paternal age. It is a complementary test to traditional prenatal screening tests, providing a more complete picture of the risk of genetic disorders by sequencing cell-free fetal DNA for pathogenic (disease-causing) or likely pathogenic variants associated with select single-gene conditions. Led by Dr. Jinglan Zhang, assistant professor of molecular and human genetics at Baylor College of Medicine, the PreSeek development team carefully selected genes by a thorough curation process focused on the detection of de novo (not inherited) variants in single-gene disorders affecting the skeletal, cardiac and neurological systems.

Spotlight

The future of technology is right around the corner but the big question is - what area will be the next big advancement be? Will robots soon take over human jobs or is the next website destined to bebigger than Facebook on the horizon? It will be interesting to see what the human brain will be capable of creating next. - See more at: http://visual.ly/envisioning-near-future-technology#sthash.qNK2OHUf.dpuf

Spotlight

The future of technology is right around the corner but the big question is - what area will be the next big advancement be? Will robots soon take over human jobs or is the next website destined to bebigger than Facebook on the horizon? It will be interesting to see what the human brain will be capable of creating next. - See more at: http://visual.ly/envisioning-near-future-technology#sthash.qNK2OHUf.dpuf

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