Autosomal Recessive Conditions
A neuromuscular condition that every patient should be screened for
Spinal muscular atrophy
An X-linked condition ACOG recommends testing for if there is a family history of ID
Fragile X syndrome
ACOG is an acronym for
American College of Obstetricians and Gynecologists
Genetic counselors follow these guidelines when discussing carrier screening
ACMG
The amount of time most carrier screens take to report
2 weeks
A hemoglobinopathy with a high carrier frequency in African Americans
T/F: You patient is a carrier of a fragile X premutation. FOB should pursue testing
ACMG is an acronym for
American College of Medical Genetics
A reason to refer to a prenatal genetic counselor
Too many too type
Who decides what conditions are within carrier screening panels
The genetics labs
Tay Sachs Disease
The number of CGG repeats for a Fragile X intermediate/Gray zone carrier
45-54
The tier carrier screening ACMG recommends for average risk patients
Tier 3
The MLH locations that genetic counseling is offered at
LMC, BMH, RH, PH, KOP, Telemed
T/F: A patient must have insurance to pursue carrier screening
False. There are many self-pay options
The chance to be a carrier of SMA if your sister is a carrier
1 in 2 (50%)
How many X linked conditions are within ACMG tier 3 testing guidelines
Their tier carrier screen that most closely reflects ACOG guidelines
Tier 2
The name of the genetic counselor giving this presentation
Taylor Henry
This is the chance of being a carrier for a condition after screening negative.
Residual risk
Your sibling HAS cystic fibrosis. What is your chance to be a carrier
2/3
The condition in which XX individuals who are carriers may present with cardiomyopathy
Duchenne MD
The current president of ACOG
Camille A. Clare, MD, MPH, CPE, FACOG
How long is a typical genetic counseling appointment
1 hour
A population whose risk to carry SMA is reduced, even in the presence of a SNP
Hispanic