Study estimates population & prevalence of Down syndrome in nine U.S. states

As part of their series of studies reviewing demographic statistics to estimate prevalence and total population of individuals with Down syndrome, Dr. Brian Skotko and his team of researchers have now delved into the numbers for nine specific states. Based on their analysis, while pregnancies positive for Down syndrome are at an all-time high, the number of babies born has plateaued with the introduction of prenatal testing.  Continue reading Study estimates population & prevalence of Down syndrome in nine U.S. states

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Lawsuit involving Sequenom, Ariosa, and Natera: a revolutionary discovery is not patentable when using routine methods

sealThe United States Court of Appeals for the Federal Circuit issued its opinion reviewing a lower court’s ruling that Sequenom’s use of cell free DNA (“cfDNA”) for its tests like MaterniT21 is not patentable. Here’s how the appellate court ruled. Continue reading Lawsuit involving Sequenom, Ariosa, and Natera: a revolutionary discovery is not patentable when using routine methods

Noninvasive prenatal genetic testing not recommended as first tier screen for most women

ACOG-SMFM cfDNA guidelinesThe American Congress of Obstetricians & Gynecologists (ACOG) and the Society for Maternal-Fetal Medicine (SMFM) have issued an updated joint statement on noninvasive prenatal genetic screening (NIPGS). It adds clarity on whom practitioners should offer it to, what NIPGS tests for, and how it relates to other prenatal testing options. Continue reading Noninvasive prenatal genetic testing not recommended as first tier screen for most women