1. Which of the following tests is used to detect genetic disorders in the fetus early in pregnancy?
a) Amniocentesis
b) Non-stress test
c) Glucose tolerance test
d) Biophysical profile
Answer: a) Amniocentesis
2. What is the primary goal of genetic counseling during pregnancy?
a) To provide information about genetic disorders
b) To perform diagnostic tests
c) To offer treatment options for genetic disorders
d) To determine the sex of the fetus
Answer: a) To provide information about genetic disorders
3. Which genetic test is typically performed during the first trimester to assess the risk of Down syndrome?
a) Chorionic villus sampling (CVS)
b) Maternal serum alpha-fetoprotein (AFP)
c) Nuchal translucency screening
d) Amniocentesis
Answer: c) Nuchal translucency screening
4. What is the main purpose of chorionic villus sampling (CVS)?
a) To assess fetal lung maturity
b) To diagnose genetic conditions early in pregnancy
c) To monitor fetal heart rate
d) To evaluate amniotic fluid levels
Answer: b) To diagnose genetic conditions early in pregnancy
5. Which of the following is an invasive prenatal diagnostic test that can be performed at 15-20 weeks of gestation?
a) Nuchal translucency scan
b) Amniocentesis
c) Non-stress test
d) Fetal echocardiogram
Answer: b) Amniocentesis
6. What does the term “trisomy” refer to in genetic disorders?
a) The presence of an extra chromosome
b) The absence of a chromosome
c) The presence of a single chromosome
d) A change in chromosome structure
Answer: a) The presence of an extra chromosome
7. What is the most common genetic disorder screened for during the first trimester?
a) Cystic fibrosis
b) Down syndrome
c) Tay-Sachs disease
d) Hemophilia
Answer: b) Down syndrome
8. Which test measures the amount of fetal DNA in the mother’s blood to assess the risk of certain genetic conditions?
a) Amniocentesis
b) Non-invasive prenatal testing (NIPT)
c) Chorionic villus sampling (CVS)
d) Nuchal translucency scan
Answer: b) Non-invasive prenatal testing (NIPT)
9. What does the term “genetic mutation” refer to?
a) A normal variation in DNA sequence
b) A change in the DNA sequence
c) A duplication of DNA
d) The deletion of a gene
Answer: b) A change in the DNA sequence
10. What is a common indication for performing an amniocentesis?
a) To confirm fetal sex
b) To detect fetal lung maturity
c) To diagnose genetic disorders
d) To assess maternal blood glucose levels
Answer: c) To diagnose genetic disorders
11. Which chromosome abnormality is commonly associated with Turner syndrome?
a) Trisomy 21
b) Monosomy X
c) Trisomy 18
d) Trisomy 13
Answer: b) Monosomy X
12. What is the typical gestational age for performing chorionic villus sampling (CVS)?
a) 10-13 weeks
b) 14-20 weeks
c) 21-24 weeks
d) 25-30 weeks
Answer: a) 10-13 weeks
13. Which of the following conditions can be detected using a maternal serum alpha-fetoprotein (AFP) test?
a) Down syndrome
b) Neural tube defects
c) Cystic fibrosis
d) Hemophilia
Answer: b) Neural tube defects
14. What is the purpose of a karyotype analysis in prenatal genetics?
a) To determine the fetal sex
b) To assess the risk of genetic disorders
c) To analyze the number and structure of chromosomes
d) To measure hormone levels
Answer: c) To analyze the number and structure of chromosomes
15. Which genetic disorder is characterized by an extra chromosome 21?
a) Klinefelter syndrome
b) Turner syndrome
c) Down syndrome
d) Edward syndrome
Answer: c) Down syndrome
16. What is the main benefit of non-invasive prenatal testing (NIPT)?
a) It is less accurate than invasive tests
b) It provides results earlier in pregnancy
c) It carries no risk of miscarriage
d) It is less expensive than amniocentesis
Answer: c) It carries no risk of miscarriage
17. Which prenatal diagnostic test involves taking a small sample of amniotic fluid?
a) Chorionic villus sampling (CVS)
b) Amniocentesis
c) Non-stress test
d) Nuchal translucency scan
Answer: b) Amniocentesis
18. What is the primary purpose of genetic counseling before prenatal testing?
a) To discuss the risks and benefits of testing
b) To perform the genetic tests
c) To schedule an ultrasound
d) To monitor fetal heart rate
Answer: a) To discuss the risks and benefits of testing
19. Which of the following conditions is typically tested for using chorionic villus sampling (CVS)?
a) Down syndrome
b) Cystic fibrosis
c) Tay-Sachs disease
d) All of the above
Answer: d) All of the above
20. What does the term “carrier screening” refer to in genetic counseling?
a) Testing the fetus for genetic disorders
b) Testing the mother for genetic disorders
c) Testing both parents for genetic disorders
d) Screening for environmental risks
Answer: c) Testing both parents for genetic disorders
21. What is the primary advantage of non-invasive prenatal testing (NIPT) compared to traditional screening methods?
a) Lower cost
b) No risk of miscarriage
c) Faster results
d) Detects more conditions
Answer: b) No risk of miscarriage
22. What is a common reason for recommending prenatal genetic testing?
a) Advanced maternal age
b) Family history of genetic disorders
c) Abnormal ultrasound findings
d) All of the above
Answer: d) All of the above
23. What is the typical timeframe for performing an amniocentesis?
a) 10-12 weeks
b) 14-16 weeks
c) 18-20 weeks
d) 22-24 weeks
Answer: b) 14-16 weeks
24. Which condition is characterized by a missing or extra sex chromosome?
a) Down syndrome
b) Turner syndrome
c) Klinefelter syndrome
d) Both b and c
Answer: d) Both b and c
25. What is a common result of a positive genetic screening test?
a) Confirmation of a genetic disorder
b) Further diagnostic testing
c) Immediate treatment
d) Normal fetal development
Answer: b) Further diagnostic testing
26. Which genetic disorder is commonly screened for in newborns through a heel prick test?
a) Down syndrome
b) Phenylketonuria (PKU)
c) Cystic fibrosis
d) Sickle cell disease
Answer: b) Phenylketonuria (PKU)
27. What does the term “genetic predisposition” refer to?
a) The presence of a genetic disorder
b) The likelihood of developing a condition based on genetics
c) The absence of genetic risk
d) A mutation in a gene
Answer: b) The likelihood of developing a condition based on genetics
28. What is the main limitation of non-invasive prenatal testing (NIPT)?
a) It is not available early in pregnancy
b) It cannot detect all genetic disorders
c) It is invasive
d) It is not covered by insurance
Answer: b) It cannot detect all genetic disorders
29. Which of the following conditions is caused by a genetic mutation that affects the production of hemoglobin?
a) Cystic fibrosis
b) Sickle cell disease
c) Down syndrome
d) Turner syndrome
Answer: b) Sickle cell disease
30. What is the primary purpose of a genetic carrier screening test?
a) To diagnose genetic disorders in the fetus
b) To determine the risk of passing a genetic disorder to the offspring
c) To assess the risk of environmental factors
d) To analyze the number of chromosomes
Answer: b) To determine the risk of passing a genetic disorder to the offspring
31. Which of the following is NOT typically assessed by prenatal genetic testing?
a) Fetal lung maturity
b) Chromosome abnormalities
c) Genetic mutations
d) Single-gene disorders
Answer: a) Fetal lung maturity
32. What does a “positive” result in genetic screening usually indicate?
a) A diagnosis of a genetic disorder
b) Increased risk of a genetic disorder
c) Normal genetic results
d) Immediate need for treatment
Answer: b) Increased risk of a genetic disorder
33. Which of the following is a non-invasive method for assessing the risk of genetic disorders in the fetus?
a) Amniocentesis
b) Chorionic villus sampling (CVS)
c) Ultrasound
d) Nuchal translucency scan
Answer: d) Nuchal translucency scan
34. What is the most common chromosomal abnormality associated with maternal age?
a) Trisomy 21
b) Monosomy X
c) Trisomy 18
d) Trisomy 13
Answer: a) Trisomy 21
35. In genetic counseling, what does “informed consent” mean?
a) Agreeing to participate in a study
b) Understanding the risks and benefits of genetic testing
c) Signing a consent form for a medical procedure
d) Agreeing to undergo a surgical procedure
Answer: b) Understanding the risks and benefits of genetic testing
36. Which test is used to analyze fetal DNA from maternal blood for genetic disorders?
a) Amniocentesis
b) Non-invasive prenatal testing (NIPT)
c) Chorionic villus sampling (CVS)
d) Maternal serum alpha-fetoprotein (AFP)
Answer: b) Non-invasive prenatal testing (NIPT)
37. What is the purpose of performing a genetic test for cystic fibrosis in a couple planning to conceive?
a) To diagnose the condition in the fetus
b) To determine if one or both partners are carriers of the cystic fibrosis gene
c) To assess the risk of miscarriage
d) To evaluate the overall health of the fetus
Answer: b) To determine if one or both partners are carriers of the cystic fibrosis gene
38. What is the typical method used for early prenatal screening for chromosomal abnormalities?
a) Maternal serum alpha-fetoprotein (AFP)
b) Nuchal translucency screening
c) Amniocentesis
d) Non-stress test
Answer: b) Nuchal translucency screening
39. Which prenatal test is most commonly associated with a risk of miscarriage?
a) Nuchal translucency scan
b) Non-invasive prenatal testing (NIPT)
c) Amniocentesis
d) Chorionic villus sampling (CVS)
Answer: c) Amniocentesis
40. What does a “negative” result in genetic screening usually indicate?
a) Absence of genetic disorders
b) Presence of a genetic disorder
c) Increased risk of genetic disorders
d) Need for further diagnostic testing
Answer: a) Absence of genetic disorders
41. Which condition is NOT commonly tested for during routine prenatal genetic screening?
a) Cystic fibrosis
b) Down syndrome
c) Tay-Sachs disease
d) Color blindness
Answer: d) Color blindness
42. What is the primary benefit of early genetic counseling for prospective parents?
a) To make decisions about pregnancy management
b) To provide emotional support only
c) To perform genetic tests
d) To guarantee a healthy baby
Answer: a) To make decisions about pregnancy management
43. Which genetic disorder is caused by a deletion of a portion of chromosome 22?
a) Down syndrome
b) DiGeorge syndrome
c) Turner syndrome
d) Klinefelter syndrome
Answer: b) DiGeorge syndrome
44. What is the primary goal of genetic testing for prenatal screening?
a) To diagnose all possible genetic conditions
b) To assess the risk of specific genetic disorders
c) To provide a definitive diagnosis of all genetic disorders
d) To replace invasive procedures
Answer: b) To assess the risk of specific genetic disorders
45. What is the benefit of performing genetic testing in the second trimester of pregnancy?
a) Provides early detection of all genetic disorders
b) Allows for early intervention and management
c) Offers more accurate results than first-trimester testing
d) Ensures no further testing is needed
Answer: b) Allows for early intervention and management
46. Which genetic condition is characterized by an extra chromosome 13?
a) Down syndrome
b) Patau syndrome
c) Edwards syndrome
d) Turner syndrome
Answer: b) Patau syndrome
47. What is the primary purpose of a genetic carrier test?
a) To detect genetic disorders in the fetus
b) To identify individuals who carry a gene for a genetic disorder
c) To confirm the diagnosis of a genetic disorder
d) To assess the risk of environmental factors
Answer: b) To identify individuals who carry a gene for a genetic disorder
48. Which of the following is a common indication for recommending genetic counseling?
a) Advanced maternal age
b) Family history of genetic disorders
c) Abnormal ultrasound findings
d) All of the above
Answer: d) All of the above
49. What is the primary limitation of carrier screening for genetic disorders?
a) It can only detect certain genetic disorders
b) It is invasive and carries risks
c) It is only available for women
d) It requires immediate follow-up testing
Answer: a) It can only detect certain genetic disorders
50. What is the main advantage of chorionic villus sampling (CVS) over amniocentesis?
a) It is less invasive
b) It can be performed earlier in pregnancy
c) It has a lower risk of miscarriage
d) It provides results faster than amniocentesis
Answer: b) It can be performed earlier in pregnancy