Question 1

Which of the following best describes the primary goal of nondirective genetic counseling?

Accepted Answer

To provide patients with information and support so they can make their own informed decisions in line with their values

Question 2

A couple with a history of three consecutive miscarriages is referred for genetic counseling. What is the most appropriate initial genetic test to perform?

Accepted Answer

Peripheral blood karyotyping

Question 3

Which of the following is a key benefit of establishing an accurate genetic diagnosis for a patient?

Accepted Answer

It allows for precise recurrence risk assessment and access to support resources

Question 4

A woman presents with primary amenorrhea and is found to have a 45,X karyotype. Which syndrome is most likely?

Accepted Answer

Turner syndrome

Question 5

In the context of genetic counseling, which of the following best defines 'empirical risk'?

Accepted Answer

Risk estimated by studying large numbers of families and observing disease frequency

Question 6

A couple is concerned about their risk of having a child with cystic fibrosis. Both are healthy but have a family history of the disease. What type of genetic testing is most appropriate for them?

Accepted Answer

Carrier testing

Question 7

Which of the following is a common indication for referral to a genetics clinic in adults?

Accepted Answer

Family history of cancer such as breast, ovary, or bowel cancer

Question 8

A newborn is found to have ambiguous genitalia and a 46,XY karyotype. Which genetic condition should be considered?

Accepted Answer

Androgen insensitivity syndrome

Question 9

Which of the following best explains why genetic counseling often involves a multidisciplinary team?

Accepted Answer

Genetic counseling requires input from various specialists to address medical, psychological, and social aspects

Question 10

A patient is found to have a balanced chromosomal translocation. What is the most significant risk in future pregnancies?

Accepted Answer

Increased risk of having a child with an unbalanced chromosomal abnormality

Question 11

Which of the following statements about whole exome sequencing (WES) is correct?

Accepted Answer

WES sequences all coding exons of every gene in the genome

Question 12

A couple is referred for genetic counseling after their child is diagnosed with Duchenne muscular dystrophy. What is the most likely inheritance pattern for this disorder?

Accepted Answer

X-linked recessive

Question 13

Which of the following best describes a 'sequence' in the context of congenital malformations?

Accepted Answer

A single primary defect causing a cascade of secondary abnormalities

Question 14

A patient with a family history of Huntington disease seeks predictive genetic testing. Which of the following is the most important consideration before testing?

Accepted Answer

Testing should be done within the context of genetic consultation and counseling

Question 15

Which of the following is a key psychosocial issue that may arise during genetic counseling?

Accepted Answer

Knowledge of genetic risk can cause significant emotional distress and anxiety

Question 16

A couple is considering prenatal testing for Down syndrome. Which of the following is a non-invasive screening method that can be performed during pregnancy?

Accepted Answer

Analysis of free fetal DNA in maternal circulation

Question 17

Which of the following best describes the recurrence risk for a Mendelian autosomal recessive disorder when both parents are carriers?

Accepted Answer

$$P = 0.25$$

Question 18

A male patient is found to have infertility due to congenital bilateral absence of the vas deferens. Which gene is most likely mutated?

Accepted Answer

CFTR

Question 19

Which of the following is the most appropriate use of a gene panel in clinical genetics?

Accepted Answer

To analyze dozens to over 100 genes simultaneously for mutations associated with a specific phenotype

Question 20

A family with a history of a late-onset neurodegenerative disorder is seeking risk assessment. Which of the following best describes how recurrence risk is estimated for complex diseases?

Accepted Answer

By empirical observation of disease frequency in families

Genetic Counseling and Genetic Testing: Principles, Practice, and Clinical Applications

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