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
How do we deal with NIPGS and ‘The Big C’?
Stories have been circulating for a while now that anomalous non-invasive prenatal genetic screening (NIPGS) results may sometimes indicate maternal cancer. Recently, however, these anecdotes have given way to more rigorous data, from a group of researchers at University of Leuven in Belgium, and from US companies Sequenom and Illumina.
For many this new discovery is not all that surprising. For several years now, researchers have been pursuing a test, based on cell-free DNA, that would provide a reliable “liquid biopsy.” Indeed, such tests are already being used clinically in limited circumstances, though–as with NIPGS–the rapid translation of this technology has left important questions about reliability and actionability as yet unanswered. Even more promising, sequencing cell-free DNA may circumvent some of the problems recently proposed with sequencing tumor DNA without matched controls from normal tissue–because both kinds of DNA will be present in serum, and can be distinguished by their relative frequency, much as NIPGS does with fetal and maternal cell-free DNA. Continue reading How do we deal with NIPGS and ‘The Big C’?
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 