The American College of Obstetricians & Gynecologists (ACOG) and the Society for Maternal Fetal Medicine (SMFM) have issued new guidelines replacing previous guidance on prenatal genetic screening. The guidelines are restricted to subscribers and members. This post summarizes Practice Bulletin No. 226, offers brief commentary, and invites your thoughts on the new guidelines. Continue reading ACOG/SMFM Issue New Guidelines for Prenatal Genetic Screening
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
Coalition for Access to Prenatal Screening: Labs Advocate for Coverage of cfDNA Screening
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
ACMG Releases New Statement on cell free DNA Prenatal 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
Lawsuit involving Sequenom, Ariosa, and Natera: a revolutionary discovery is not patentable when using routine methods
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
ACOG Issues New Prenatal Testing Guidelines
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
Noninvasive prenatal genetic testing not recommended as first tier screen for most women
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
Positive predictive value for noninvasive prenatal genetic screening
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.
Continue reading Positive predictive value for noninvasive prenatal genetic screening
ISPD New Statement on NIPGS: A Major Sea-Change
The International Society for Prenatal Diagnosis (ISPD) issued an updated statement on prenatal screening for aneuploidy in April 2015. It is radically different than the one they issued only two years ago. Continue reading ISPD New Statement on NIPGS: A Major Sea-Change
More NIPGS = More Misdiagnoses and Risk
A new study reports on the impact of noninvasive prenatal genetic screening (“NIPGS”) on referrals for diagnostic testing. It finds plummeting diagnostic testing and more. Continue reading More NIPGS = More Misdiagnoses and Risk
Prenatal Information Research Consortium 