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
Five laboratories have banded together to raise awareness about cell free DNA screening and lobby for its coverage by insurers for greater access by expectant mothers. Continue reading Coalition for Access to Prenatal Screening: Labs Advocate for Coverage of cfDNA Screening
The American College of Medical Genetics & Genomics (ACMG) has issued a new statement on cell free DNA prenatal screening. As with its initial statement, the ACMG separates itself from existing statements and guidelines on cfDNA screening. Continue reading ACMG Releases New Statement on cell free DNA Prenatal Screening
The 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
The American College of Obstetricians & Gynecologists has issued new guidelines for prenatal diagnostic and screening testing for genetic disorders. These new guidelines will become the new rules by which obstetricians administer prenatal testing. Continue reading ACOG Issues New Prenatal Testing Guidelines
The 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
A recent report shares the odds that a noninvasive prenatal genetic screening (NIPGS) result is suggestive of a true positive in a clinical setting. It also makes several key points about the administration of NIPGS and patient choices.