Prenatal Diagnosis: Raine syndrome: Prenatally identified severe craniofacial phenotype with multisuture synostosis and brain abnormalities associated with variants in FAM20C https://t.co/ajdMRqBdWF
Perinatal GCs (& other prenatal providers) in CA have been on a rollercoaster over the past few months ... looks like we’ll be on this ride for awhile longer.. #GeneChat
California Court Temporarily Stops State From Barring Other Labs Performing Trisomy Screenings. A California court barred the state's Department of Public Health from enacting a new requirement that only select labs perform trisomy screening in the state. https://t.co/Oa1X7tqVpB
@alej_gene These sheets are GREAT for my reference during appts (I look down for info/notes basically every appt); they are also great for writing pt comments, concerns, f/u “to-do”s for me — my prep sheets are my lifeline
@alej_gene Then on the back of my prep sheets I put any FHx/MHx/teratogen concerns (name, info - like consults or surgeries they’ve had, and risk for preg and recurrence risk); ultrasound findings (info, who’ve they’ve seen + f/u consults/imaging, RR and genetic info)
Realized I hadn’t introduced my new addition to #GeneChatPets so I figured #FloofFriday was the perfect excuse! Meet Chance-a 3yo golden rescue 💛 Tip for new grads: to help create a better work/life balance, adopt a pet that NEEDS you to leave/stop work at 5pm for a potty break
This cruel ban will fall hardest on those who already face systemic racism and discrimination, including Black and Brown communities, those with disabilities, and LGBTQ+ folks, as well as those who are young, have low incomes, or live in rural communities.
@nkrberman to which lead Dr says “exactly, so I’m sequencing her entire DNA!” … a few hours later and she magically has the genome print out — all which leads to a diagnosis of thiamine metabolism dysfunction syndrome
Needless to say this hospital needs a GC and test utilization program!
@nkrberman Earlier in the episode the Dr has metabolic conditions on the diff dx d/t baby with distinct cry+seizure & prev child w/same cry who died at ~4mo… then another Dr says “you need a separate draw of blood for each test & baby doesn’t have that much blood” (lol) ..
Questions have been raised about noninvasive prenatal screening for rare genetic disorders due to a recent @nytimes report. Genetic counselors help patients understand these tests & their results. Find a GC in your area or via telehealth today: https://t.co/GhV3TF3R7d #GCchat
As #SCOTUS hears arguments in #DobbsvJackson, we stand in opposition to legislation that violates the patient-provider relationship & impacts patients who seek genetic counseling after prenatal imaging, screening and/or diagnosis, often occurring after 15 weeks gestation. #GCchat
Feeling energized about offering ECS to ALL patients? **Let’s talk about challenges to getting BOTH partners screened** @cheers2chelsea +team found ONLY 38% of partners did follow-up testing. This data laid the foundation for our research - https://t.co/4iGRHmdAJw #NSGC21
Talk about well-deserved!! From day 1 of being my “near peer” @m_mosera has answered questions, provided insights, and encouraged me to pursue every opportunity. Thank you for helping my little GC seed grow & develop - So excited to see your tireless efforts recognized!! #vumgc
Congratulations to #VUMGC faculty @m_mosera and Meredith Gerhart on their recent awards from @tn_gca ! Mosera received the award for top Genetic Counselor Supervisor while Gerhart won the Genetic Counselor Outreach Award.
Read more about our program: https://t.co/hNDiiplkBV
We oppose Texas #SB8 as it prevents healthcare providers, including genetic counselors, from delivering quality patient care without fear of retribution. We support the right of individuals to make reproductive choices, including access to safe abortion. #GCchat