Chapter 10: Fetal Development and Genetics Flashcards
A patient with polycystic kidney disease has a 50% chance of passing the condition to their child. This inheritance pattern is characteristic of which of the following?
A. Autosomal recessive
B. X-linked recessive
C. Autosomal dominant
D. Multifactorial
C. Autosomal dominant
Huntington’s disease is an example of:
A. An autosomal recessive disorder
B. A multifactorial disorder
C. An autosomal dominant disorder
D. A chromosomal abnormality
C. An autosomal dominant disorder
Which of the following is true regarding autosomal recessive disorders?
A. Both parents must be carriers for a child to be affected
B. The disorder is always passed from mother to child
C. Males are more frequently affected than females
D. Only one parent needs to carry the gene for the child to be affected
A. Both parents must be carriers for a child to be affected
In an autosomal recessive inheritance pattern, if both parents are carriers, what is the chance of their child being unaffected (not carrying or having the condition)?
A. 0%
B. 25%
C. 50%
D. 75%
B. 25%
A newborn is diagnosed with trisomy 21. Which of the following statements is accurate?
A. It results from an extra chromosome on chromosome 18
B. It is also known as Down syndrome
C. It primarily affects females
D. It occurs due to a deletion on chromosome
B. It is also known as Down syndrome
What is the primary characteristic of trisomy 18 (Edwards syndrome)?
A. Affected individuals often survive to adulthood
B. It involves a missing X chromosome
C. It typically results in severe structural abnormalities
D. It is more common than trisomy 21
C. It typically results in severe structural abnormalities
Which chromosomal abnormality affects only males and involves an extra X chromosome?
A. Turner syndrome
B. Klinefelter syndrome
C. Trisomy 13
D. Trisomy 21
B. Klinefelter syndrome
Turner syndrome is characterized by which of the following?
A. A single X chromosome in females
B. An extra Y chromosome in males
C. Structural heart defects in males
D. Severe intellectual disabilities in both sexes
A. A single X chromosome in females
A pregnant patient is concerned about chromosomal abnormalities. Which of the following is true about the risk of trisomy 21?
A. Risk decreases with increasing maternal age
B. Risk increases with paternal age only
C. Risk increases with maternal age
D. Risk remains constant regardless of age
C. Risk increases with maternal age
What is the primary function of amniotic fluid?
A. To nourish the fetus
B. To protect the fetus by acting as a cushion
C. To supply oxygen to the fetus
D. To aid in maternal digestion
B. To protect the fetus by acting as a cushion
Which of the following is a first-trimester screening tool used to assess risk for Down syndrome?
A. Amniocentesis
B. Nuchal translucency ultrasound
C. Quad screen
D. Chorionic villus sampling (CVS)
B. Nuchal translucency ultrasound
Cell-free DNA testing is recommended for:
A. Women under age 20
B. Pregnancies at less than 5 weeks
C. Women over age 35
D. Diagnosing neural tube defects
C. Women over age 35
Which of the following is true regarding amniocentesis?
A. It is performed during the first trimester
B. It has a higher risk of pregnancy loss compared to CVS
C. It is used to diagnose chromosomal abnormalities and genetic disorders
D. It cannot be used to assess neural tube defects
C. It is used to diagnose chromosomal abnormalities and genetic disorders
The nurse is discussing genetic counseling with a patient. Which of the following indicates a need for genetic counseling?
A. History of five or more miscarriages
B. No family history of genetic disorders
C. Advanced paternal age only
D. No prior pregnancies
A. History of five or more miscarriages
Which screening test combines maternal serum alpha-fetoprotein (MSAFP) with other blood markers to assess for potential birth defects?
A. Cell-free DNA testing
B. Quad screen
C. Nuchal translucency measurement
D. Chorionic villus sampling
B. Quad screen
