More than a decade since a new prenatal screening test was made available clinically. And in these years, healthcare providers have just started to agree on what to call it. When Sequenom first launched the MaterniT21 screen for Down syndrome in 2011, this type of testing was labeled “Noninvasive Prenatal Diagnosis” or NIPD. The promotion …
If you have heard GSF board member, Stephanie Meredith, share her research on the experiences of patients and families who have received a prenatal or postnatal diagnosis of Down syndrome, you will be familiar with the term “flashbulb memory”. The term flashbulb memory was introduced to describe memories of emotionally charged, traumatic or surprising events …
At Genetic Support Foundation our work ensures that the people we serve have up-to-date and balanced information about genetics and health. We support individuals as they make informed and autonomous decisions about genetics and their health that are based on objective, balanced information that is free from commercial influence and other such biases. The importance …
The Importance of Timely Access to Objective Genetic Counseling Read More »
by Katie Stoll The New York Times published an important investigative piece this week, exploring concerns about expanded prenatal genetic screening. Specifically, the article focuses on the practice of prenatal screening for the possibility of a microdeletion condition in the fetus. The authors Sarah Kliff and Aatish Bhatia walk readers through some of the microdeletions that are …
In October 2020 the American College of Obstetricians and Gynecologists (ACOG) and the Society of Maternal Fetal Medicine (SMFM) released an updated practice bulletin regarding genetic screening and testing for chromosomal abnormalities during pregnancy. You may ask, why is this important? Why or how does this impact me? Let’s start with, who are these organizations …
ACOG Guidelines on Prenatal Screening for Aneuploidy Read More »
My colleagues and I were recently discussing some issues around carrier screening, particularly when it comes to variants of uncertain significance (VUS). As the name implies, VUSs are changes that are found in a gene that have not been seen enough to know whether they affect how the gene works (and thus can cause disease) …
Carrier Screening Tests for Expecting Parents: A Discussion on VUS Read More »
I asked my midwife to put in an order for my 20-week anatomy ultrasound early, so that I could schedule enough in advance to make sure my husband was free to accompany me to the appointment. I knew how significant this ultrasound would be for us as first-time expecting parents. For many, the 20-week ultrasound …
Attending Alone: Pregnancy Appointments During COVID-19 Read More »
What is a Genetic Counselor? It’s a question every single genetic counselor has heard many times. While it can be frustrating, it’s also kind of understandable. While genetic counseling has been around since the early 1970s, up until fairly recently, the vast majority of people didn’t have much of a reason to see a genetic …
Cell-free DNA (cfDNA), also going by the monikers of Noninvasive Prenatal Testing (NIPT) and Noninvasive Prenatal Screening (NIPS), screens for a handful of genetic conditions. The detection rate of cfDNA is high for many of these conditions, especially for Down syndrome. Many labs boast that their cfDNA is “greater than 99% accurate”. So what does …
