GENETIC COUNSELING Flashcards
What is the estimate carrier frequency of genetic disorders in the Ashkenazi Jewish population?
A. 1/3
B. 1/9
C. 1/16
D. 1/24
E. 1/38
A. 1/3
Which one of the following genetic disorders is the most common in Ashkenazi Jews:
A. Canavan disease
B. Cystic fibrosis
C. Familial dysautonomia
D. Gaucher disease
E. Tay-Sachs disease
D. Gaucher disease 1in 18
Tay-sachs 1 in 31
Cleft palate (1 in 2650) vs Cleft lip (4400). Which of the following is NOT a risk factor for cleft lip/palate?
A. African American
B. Male
C. Maternal alcohol use during pregnancy
D. Maternal antiepilepsy therapy during first trimester
E. Maternal diabetes
F. Maternal smoking during pregnancy
G. None of the above
A. African American
Which of the following races/ethnicities has a higher risk for cleft lip/palate?
A. African Americans
B. Ashkenazi
C. Asian
D. Caucasian
E. Latinos
C. Asians 17 n 1000
Which one of the following statements regarding cleft lip is NOT correct?
A. A male fetus with a brother having CL has a higher risk to have CL than a female fetus with a brother having CL
B. A male fetus with a brother having CL has a higher risk to have CL than a male fetus with a sister having CL
C. A male fetus with a brother and mother having CL has a higher risk to have CL than a male fetus with a brother having CL
D. All of the above
E. None of the above
B. A male fetus with a brother having CL has a higher risk to have CL than a male fetus with a sister having CL
- Males are twice as likely to have a cleft lip +/- cleft palate
Which of the following medical conditions occurs more often in females than males?
A. Alzheimer’s disease
B. Cleft lip
C. Club foot
D. Pyloric stenosis
E. All of the above
F. None of the above
A. Alzheimer’s disease
Which of the following medical conditions occurs more often in males than females?
A. Cleft lip
B. Club foot
C. Hirschsprung disease
D. Pyloric stenosis
E. All of the above
F. None of the above
E. All of the above
Cleft lip - 1 in 1000
Club foot - 1 in 1240
Hirschsprung disease - 1 in 5000
Pyloric stenosis - 2-3.5 per 1000
How frequently do newborns have have congenital anomalies?
A. <1%
B. 4%
C. 9%
D. 22%
E. None of the above
B. 4%
Which of the following describes the reason why Gaucher disease is more prevalent in Ashkenazi Jews than other populations?
A. Bottleneck and founder effects
B. High mutation rate
C. Natural selection due to environmental factors
D. All of the above
E. None of the above
A. Bottleneck and founder effects
The newborn screening program identified a F508del variant and a follow sweat sodium chloride was positive. Which of the following may a genetic counselor NOT offer in this situation?
A. Discussing the recurrent risk
B. Identifying at-risk family members
C. Providing information about support groups
D. Providing the family an understanding of the mode of inheritance
E. Suggesting therapy in a clinical trial
F. All of the above
G. None of the above
E. Suggesting therapy in a clinical trial
How frequently does prelingual hearing loss have a genetic etiology in Western nations?
A. >99%
B. 80%
C. 50%
D. 30%
E. 10%
F. <1%
C. 50%
Most common birth defect
Which one of the following inheritance modes does most of genetic prelingual hearing loss have?
A. AD
B. AR
C. XD
D. XR
E. Mitochondrial
B. AR
20% Torch infectios
Which one of the following disorders accounts for the majority of cases of hemolytic disease of the fetus and newborn (HDFN)?
A. RhD incompatibility
B. RhK incompatibility
C. Rhc incompatibility
D. RhE incompatibility
E. ABO incompatibility
A. RhD incompatibility
Age-related macular degeneration is a complex disease trait with both genetic environmental influences. Which one of the following is the single most important environmental risk factor for AMD?
A. Alcohol use
B. Obesity
C. Oral contraceptive use
D. Smoking
E. Radiation
D. Smoking
Which one of the following complications do patients Down syndrome have NO increased risk to develop?
A. Alzheimer disease
B. Leukemia
C. Parkinson’s disease
D. Premature aging
E. Seizure
C. Parkinson’s disease
Late-onset Alzheimer’s disease is a complex disease trait. Which one of the following is NOT risk factor for it?
A. APOE genotype E4/E4
B. Down syndrome
C. Female sex
D. One brother diagnosed with late-onset AD at the age of 62
E. Oral contraceptives
E. Oral contraceptives
After what age do nearly all patients with Down syndrome have neuropathological findings of Alzheimer’s disease?
A. 35
B. 40
C. 45
D. 50
E. 55
F. 60
B. 40
Which of the following do children born with reproductive technologies, such as IVF, have an increased risk to develop?
A. achondroplasia
B. Beckwith-Wiedemann syndrome
C. Duchenne muscular dystrophy
D. Hirschsprung disease
E. Miller-Dieker syndrome
B. Beckwith-Wiedemann syndrome
1 in 4000 which is 10x greater than normal population
What is the approximate cumulative risk of breast cancer by 70 years if an individual carries a BRCA1 pathogenic variant?
A. 12%
B. 33%
C. 57%
D. 86%
E. >99%
F. None of the above
C. 57%
Which one of the following is the estimate of cumulative risk of breast cancer 70 years if an individual carries a BRCA2 pathogenic variant?
A. 9%
B. 21%
C. 49%
D. 71%
E. 86%
F. None of the above
C. 49%
What is the estimate of cumulative risk of ovarian cancer by age 70 for carriers of a BRCA1 pathogenic variant?
A. 8%
B. 21%
C. 40%
D. 69%
E. 86%
F. None of the above
C. 40%
Which one of the following is the estimate of cumulative risk of ovarian cancer ay age 70 years for carriers of a BRCA2 pathogenic variant?
A. 6%
B. 18%
C. 36%
D. 59%
E. 71%
F. 86%
G. None of the above
B. 18%
What is the odds ratio for breast cancer for patients with BRCA1 pathogenic variants as compared to the normal population? hint 60/40 and 10/90
A. 1.5
B. 4
C. 6
D. 9
E. 13.5
E. 13.5
6090/ (4010) = 5400/400
What is the relative risk for breast cancer for patients with BRCA1 pathogenic variants as compared to the normal population? hint 60/100 and 10/100
A. 1.5
B. 4
C. 6
D. 9
E. 13.5
C. 6
RR = a/(a+b)/c/(c+d)
What is the odds ratio for ovarian cancer for patients with BRCA1 pathogenic variants as compared to the normal population? hint given 40/60 and 1/99
A. 2.48
B. 40
C. 60
D. 66
E. 99
D. 66
OR = 40/60/(1/99) = 40*99/60
What is the relative risk for breast cancer for patients with BRCA1 pathogenic variants as compared to the normal population? given 40/60 vs 1/99
A. 2.48
B. 6
C. 40
D. 66
E. 99
C. 40
40/100/(1/100)
Which of the following about the prevalence of BRCA1 pathogenic variants is NOT correct?
A. BRCA1 pathogenic variants are more common in AA than Hispanics
B. More common in Ashkenazi than AA
C. More common in Ashkenazi than Caucasians
D. More common in Caucasians than Asians
E. More common in French Canadians than Europeans
A. BRCA1 pathogenic variants are more common in AA than Hispanics
Hispanics 3.5%
White 2.2%
AA 1.3%
Asians 0.5%
A 32 yo woman has breast cancer and a BRCA2 mutation. She asks about genetic testing for her 6 and 4 yo daughters. Which of the following responses would be the most appropriate?
A. Order BRCA2 Sanger sequencing
B. Order BRCA2 Sanger sequencing for the older daughter
C. Ordering targeted sequencing for both daughters
D. Ordering targeted sequencing for the older daughter
E. Referring the family to a pediatric clinic
F. Suggest not testing the daughters until they are adults
F. Suggest not testing the daughters until they are adults
46 yo Caucasian woman with breast cancer and BRCA2 mutation. She has 16 and 12 year old daughters. The 16 yo has signed papers as has the 12 yo after she was encouraged by her mother and sister. What is the appropriate response?
A. Order BRCA2 Sanger sequencing for both daughters
B. Order BRCA2 Sanger sequencing for the older daughter
C. Order a targeted BRCA2 study for both daughters
D. Order a targeted BRCA2 study for the older daughter but not the younger one
E. Suggest not testing the daughters until they are adults
D. Order a targeted BRCA2 study for the older daughter but not the younger one
Which ethnicity has a higher risk for Crohns disease?
A. AA
B. Asian
C. Caucasian
D. Latinos
E. Not sure
C. Caucasian
Which of the following is not a significant risk factor for Crohns disease?
A. Ashkenazi
B. Corticosteroids
C. Family history of Crohns disease
D. Homozygous variants for NOD2
E. Smoking
B. Corticosteroids
Which of the following is the most important controllable risk factor for developing Crohns disease?
A. Low fiber diet
B. NSAIDs
C. Sedentary lifestyle
D. Smoking
E. Not sure
D. Smoking
Which ethnicity has highest carrier frequency for cystic fibrosis?
A. AA
B. Ashkenazi
C. Asians
D. Caucasians
E. Latinos
B. Ashkenazi
1in 24
Caucasians 1 in 25
AA and Hispanics 1 in 60
Asians 1 in 90
What is the lifetime risk for COAD among Western populations?
A. <0.1%
B. 1%
C. 5%
D. 10%
E. 18%
F. 36%
C. 5%
Which ethnicity has the highest risk for COAD?
A. AA
B. Ashkenazi
C. Asians
D. Caucasians
E. Latinos
A. AA
25% more than Caucasians
36 yo with APC pathogenic variant and numerous colorectal polyps asks about screening for his son?
A. Make an appt with the son for pretest counsel
B. Offer a colonoscopy to his son
C. Refer to pediatrics
D. Suggest testing at 18
E. None of the above
A. Make an appt with the son for pretest counsel
Which is not a risk factor for Hirschsprung disease?
A. Female sex
B. RET pathogenic mutation
C. Affected sibling
D. Down syndrome
E. Waardenburg-Shah syndrome
A. Female sex
Ethnicity with the highest risk for Hirschsprung disease?
A. AA
B. Ashkenazi
C. Asians
D. Caucasians
E. Latinos
C. Asians
1.5/1000 Caucasians
2.1 AA
2.8 Asians
Parental consult for 2 mo girl with long segment Hirschsprung disease. With of the following are NOT correct?
A. Recurrent risk relatively high with long segment Hirschsprung
B. Recurrent risk relatively high with female proband
C. Recurrent risk is also related to the sex of the fetus
D. Recurrent risk was relatively low based on an unaffected mother
E. None of the above
D. Recurrent risk was relatively low based on an unaffected mother
Which of the following regarding Hirschsprung disease is correct?
A. A female probands son has more risk to have the disease than a male probands son
B. A female probands son has more risk to have the disease than a male probands daughter
C. A female probands daughter has more risk than her son
D. A male probands son has more risk than a female probands son
E. A male probands son has more risk to have the disease than a female probands daughter
F. A male probands son has more risk to have the disease than his son
A.?
Which one of the following is not a risk factor for holoprosencephaly?
A. Female sex
B. Maternal diabetes
C. Maternal exposure to cholesterol-lowering agents
D. Pathogenic variants in the SHH gene
E. Smoking
C.?
Father with 42 CAG repeats in the HTT gene and couple presents with 8 yo son. What is the most appropriate response?
A. Assure the family that the son will not develop Huntingtons
B. Order the test for the son
C. Refer the family to a pediatrician
D. Suggest testing the mother first
E. Suggest not testing the son until he is an adult
E?
Father with 42 CAG repeats in the HTT gene, affected family member and couple presents with unborn son. What is the most appropriate response?
A. Assure the family that the fetus will not develop Huntingtons
B. Order the test with a CVS sample
C. Refer the family to a neurologist
D. Suggest testing with amniocentesis
E. Suggest not testing the fetus until he is an adult
D?
Which one of the following is NOT a risk factor for noninsulin-dependent T2DM?
A. Alcohol
B. DQB1*602 with Asp57
C. Obesity
D. Personal history of gestational diabetes
E. Stress
B.?
Which one of the following is a risk factor for insulin-dependent (type 1) DM?
A. Alcohol
B. Caucasian
C. DQB1*602 with Asp57
D. Obesity
E. Personal history of gestational diabetes
C.?
Pedigree questions
Pedigree questions
Pedigree questions
Pedigree questions
Pedigree questions
Pedigree questions
Pedigree questions
