Knowing What to Expect

03-12-2017

Planning for the future? Now, as early as the end of the first trimester, expectant parents can access more information about the health of their developing baby than ever before. Baylor Genetics has introduced PreSeek, the first clinical noninvasive prenatal multi-gene sequencing screen. From a single vial of a pregnant woman’s blood, the test locates abnormalities in 30 different genes associated with common, uninherited disorders, including a form of dwarfism.

PreSeek is not the first noninvasive prenatal test (NIPT); there are others currently on the market that, like PreSeek, analyze fetal DNA through a sample of the mother’s blood. These tests screen for abnormal numbers of chromosomes (aneuploidies) and whole chromosome abnormalities, which point to conditions like Down syndrome or trisomy 13, 18 or 21. They also examine known areas of the genome for small microdeletions or microduplications that often result in recognizable disorders such as velocardiofacial syndrome, which is associated with cleft palate. But Baylor’s new test takes the field a step further—to a single nucleotide level—to determine whether the fetus has abnormalities on single genes.

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