Question 1

Which of the following best describes the principle of nondirective counseling in genetic counseling practice?

Accepted Answer

Patients are given information and support to make their own decisions based on their values and beliefs.

Question 2

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

Accepted Answer

Peripheral blood karyotyping to detect chromosomal anomalies

Question 3

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

Accepted Answer

It provides accurate information about prognosis, management, and recurrence risk.

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 genetic counseling, which risk calculation method is most appropriate for Mendelian single-gene disorders?

Accepted Answer

Calculation using basic Mendelian inheritance principles

Question 6

Which of the following is a common adult indication for referral to a genetic clinic?

Accepted Answer

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

Question 7

A male patient is diagnosed with congenital bilateral absence of the vas deferens. Which gene is most likely mutated?

Accepted Answer

CFTR

Question 8

Which of the following best describes a malformation in clinical genetics?

Accepted Answer

A morphologic abnormality caused by a primary error in morphogenesis

Question 9

Which prenatal diagnostic test is typically performed at 10-12 weeks of gestation?

Accepted Answer

Chorionic villus sampling

Question 10

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

Accepted Answer

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

Question 11

Which of the following is true regarding recurrence risk for chromosomal conditions such as trisomies?

Accepted Answer

Recurrence risk may be increased if a parent carries a balanced chromosomal abnormality.

Question 12

Which statement best describes the role of genetic counselors in risk assessment for complex diseases?

Accepted Answer

They estimate risk empirically by studying familial clustering and population incidence.

Question 13

A child presents with intellectual disability and dysmorphic features. Which initial genetic test is most appropriate?

Accepted Answer

Routine karyotype

Question 14

Which of the following is a psychological aspect that genetic counseling must address?

Accepted Answer

Emotional distress and adjustment to the risk or presence of a genetic disorder

Question 15

Which equation would you use to calculate the probability of a child inheriting an autosomal recessive disorder if both parents are carriers?

Accepted Answer

$P = 0.25$

Question 16

A patient is found to have a variant of uncertain significance (VUS) on a gene panel. What is the best interpretation?

Accepted Answer

The clinical significance of the variant is currently unknown.

Question 17

Which of the following is a real-world example of locus heterogeneity in genetic disorders?

Accepted Answer

Retinitis pigmentosa caused by mutations in multiple different genes

Question 18

Non-invasive prenatal testing (NIPT) analyzes which of the following to detect common aneuploidies?

Accepted Answer

Free fetal DNA in maternal circulation

Question 19

A couple is found to have a balanced translocation. What is the risk in future pregnancies?

Accepted Answer

There is an increased risk for unbalanced translocations in offspring.

Question 20

Which of the following is a key step in the multidisciplinary process of genetic counseling in clinical practice?

Accepted Answer

Assessment: physical examination, genetic testing, and validation of diagnosis

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

Study Guide - Practice Questions