Ch. 6

The nurse is working with a mother whose unborn child was diagnosed with Down syndrome. The nurse explains to the mother that Down syndrome occurs as a result of which genetic issue?

Chromosome nondisjunction

A nurse is obtaining health history from a client with a genetic disorder. Which of the following would be most appropriate for the nurse to establish the pattern of inheritance?

Construct a pedigree of the client's family.

The nurse collects family history information from a client with a genetic condition. In which way will the nurse use this information?

Create a pedigree for this client.

A group of students are reviewing information about X-linked inheritance. The students demonstrate the need for additional study when they identify which condition as an example of X-linked recessive inheritance?

Cystic Fibrosis

A nurse is working with a couple who will be undergoing genetic testing. Which of the following would the nurse prepare the couple for as the first genetic test?

Family history

The results of a patient's prenatal testing reveal aneuploidy in the fetus. The nurse incorporates understanding of this condition, identifying its association with which of the following?

Intellectual disability

A newborn infant's mother requests more information on how the infant has red hair when only a "few" individuals in the family has this trait. What term does the nurse understand the client is speaking about?

Phenotype

While assessing a client, the nurse notes that the client has numerous freckles on his skin. The nurse interprets this finding as which of the following?

Phenotype

The nurse is preparing a teaching plan for a pregnant woman for the newborn screening done just after birth. When developing the client's teaching plan about the conditions associated with this screening, which condition would the nurse include?

Phenylketonuria

The nurse working in the labor and delivery unit prepares to test for which condition as a part normal newborn screening?

Phenylketonuria

A newborn has been diagnosed with cleft lip and cleft palate. The parents ask, "How did this happen?" The nurse would incorporate an understanding of which of the following when responding to the parents?

The conditions result from multiple gene mutations and environmental influences.

After teaching a class about genetic disorders, the instructor determines that the teaching was successful when the class identifies severe combined immunodeficiency as an example of which type of inheritance?

X-linked recessive

A female client discovers that she has the BRCA1 breast cancer gene. The client asks the nurse if she will get breast cancer. What is the nurse's best response?

"It is not 100% that you will get breast cancer."

The nurse is conducting a prenatal class for expectant parents on conception. The nurse provides additional teaching when a parent makes which statement?

"Reproductive cells are formed through mitosis."

A client has an autosomal-dominant disorder. His wife is unaffected. When explaining the risk for inheritance of the disorder in their offspring, which statement by the nurse would be most appropriate?

"There is a 50% chance that each of your children will have the condition."

A nurse working in genetics teaches a client about autosomal dominant conditions. What will the nurse include in the teaching?

"These conditions follow a vertical pattern of inheritance."

A client with a rare genetic disease is asked to participate in a study to identify drugs specific to the condition. Which response will the nurse give when the client asks, "I don't even understand what they are talking about when they say 'pharmacogenomics. What should I do?"

"This study is a unique opportunity. Pharmacogenetics means they are studying how differences in one gene affect how someone responds to a medicine."

The nurse is caring for a client who is scheduled for single gene presymptomatic genetic testing. Which education will the nurse provide to this client?

"This test will diagnose Huntington disease if you have it."

A nurse is obtaining a genetic family history of a client. The nurse collects information about family members going back at least how many generations?

3

A patient understands that her diagnosis of ovarian cancer syndrome is an autosomal-dominant inherited condition. What is the chance that her daughter will inherit the gene mutation for this disease?

50%

A 32-year-old patient has just been told that she has the BRCA1 hereditary breast cancer gene mutation. What is her risk of developing cancer by the age of 65 years?

80%

A nurse cares for a pregnant client who tells the nurse her unborn child has been diagnosed with a spontaneous gene mutation. Which conditions might the child have? Select all that apply.

Achondroplasia Marfan syndrome Neurofibromatosis type 1

A client with a strong family history of breast cancer refuses genetic testing for the condition. Which action will the nurse take to support this client's decision?

Assess the client's beliefs, values, and expectations.

The nurse is reading the chart of a new client at the genetics clinic. The chart notes that the client, her brother, and her mother all have inherited a particular condition. The nurse plans care for a condition with which type of inheritance pattern?

Autosomal dominant

Which type of Mendelian inherited condition results in both genders being affected equally in a vertical pattern?

Autosomal dominant inheritance

Cystic fibrosis is a condition passed on through which type of inheritance?

Autosomal recessive

A nurse working as part of a genetics counseling team is preparing a presentation for a career day discussion at a local college of nursing. When describing the genomic framework for nursing, which of the following would the nurse include as being most important?

Being keenly aware of one's own attitudes and assumptions about genetics and genomics

When describing the process of mitosis to students, the instructor identifies this process as occurring in which type of cell? Select all that apply.

Blood cells Nerve cells Skin cells

The nurse is working with a 40-year-old pregnant woman about to undergo amniocentesis. The nurse provides appropriate education by stating that amniocentesis is performed for a prenatal diagnosis of which condition?

Cystic fibrosis

The nurse is providing education to a client who is concerned about developing a genetic condition. Which health problems would the nurse include when teaching about diseases that use DNA analysis alone to determine the presence of the condition? Select all that apply.

Cystic fibrosis Fragile X syndrome Huntington disease

Students are reviewing the structure of DNA in preparation for a class test tomorrow. They demonstrate understanding of this information when they identify which of the following as a nitrogenous base found in DNA? Select all that apply.

Cytosine Adenine Thiamine Guanine

The nurse is caring for a child who is scheduled for genetic testing for cystic fibrosis. The nurse educates the child's parents about which genetic test?

DNA analysis

A client's admission note states that the client has an X-linked recessive condition. The nurse anticipates that the client might have which condition?

Duchenne muscular dystrophy

A nurse is assessing a client with an autosomal-recessive inherited condition. When discussing the risk of transmission to the client's offspring, what teaching would the nurse include?

Each child has a 25% risk of inheriting the gene.

The nurse is conducting a community education program on genetics/genomics. The nurse determines that participants are understanding the information when the class states that the diagnostic test used to detect small chromosomal abnormalities and to characterize chromosomal rearrangements is

Fluorescent in situ hybridization (FISH)

Which diagnostic test is useful in detecting small chromosomal abnormalities and characterizing chromosomal rearrangements?

Fluorescent in situ hybridization (FISH)

A nurse is assisting with newborn screening. For which condition would the nurse expect to screen? Select all that apply.

Galactosemia PKU

Which of the following best reflects the interpretation of the Health Insurance Portability and Accountability Act (HIPAA) and genetic information.

Genetic information cannot be used to establish insurance eligibility.

A nurse is working as part of a genetic counseling team. Which of the following tasks would the nurse most likely perform?

Identify the client's support systems.

After teaching nursing students about autosomal-dominant and autosomal-recessive inherited disorders, the instructor determines that the teaching was successful when the class identifies which of the following as true about autosomal-dominant inherited conditions?

Males and females are equally affected by this pattern of inheritance.

A nurse is preparing a presentation for a local community group about familial Alzheimer's disease. As part of the presentation, the nurse is planning to discuss the possible genetic basis for this condition. The nurse would describe the inheritance as which of the following?

Multifactorial

A pregnant woman has undergone prenatal screening that has revealed evidence of congenital heart defect in the fetus. The nurse interprets this finding as indicative of which type of inheritance?

Multifactorial

The nurse is reviewing the chart of a client who was diagnosed with a cleft lip and palate at birth. The nurse demonstrates understanding of this disorder, identifying it as involving which type of inheritance pattern?

Multifactorial

A client requests genetic testing and counseling. Which action will the nurse complete before moving forward with the client's request?

Obtain informed consent from the client.

"What is a characteristic of the genomic era of personalized medicine's impact on health care?"

Optimization of risk reduction related to genetic predisposition

A group of nursing students are reviewing information about issues associated with genetic counseling throughout the lifespan. The students demonstrate understanding of the issues when they identify which of the following as an issue related to the newborn period?

Potential for disrupted bonding

The daughter of a patient with Huntington disease has requested that she be tested for the disease even though she has no symptoms at this time. What type of test does the nurse anticipate the physician will order?

Presymptomatic testing

Through genetic testing, a client is identified as being a cytochrome P450 (CYP) ultrarapid metabolizer. Which outcome(s) will the nurse expect when assessing the effectiveness of drugs that are impacted by this cytochrome? Select all that apply.

Rapid excretion Rapid absorption Low drug blood levels Poor therapeutic response Need for longer treatment time

After assessing a client's family history, the nurse determines the need for a genetic referral based on which of the following?

Several relatives diagnosed with colon cancer

The nurse is assessing a child with Turner syndrome. The nurse anticipates which finding?

Short stature

A nurse is assessing a client of African-American descent. The nurse understands that carrier testing for which condition would be most appropriate for this client?

Sickle-cell anemia

A nurse is assessing a couple of Ashkenazi Jewish descent. The nurse understands that carrier testing for which condition would be least appropriate for this couple?

Sickle-cell disease

A child is diagnosed with Turner syndrome. When describing this genetic condition to the parents, which of the following would the nurse include?

The child will have fertility problems.

A female client is a carrier for a gene mutation on one of her X chromosomes. Her spouse is unaffected. The nurse understands that which of the following is most likely?

The client's sons have a 50% chance of being affected.

Which of the following statements best reflects autosomal-recessive inherited conditions?

Transmission usually occurs horizontally in families.

Nursing students are reviewing legislation about the use of genetic information. The students demonstrate a need for additional review when they identify which of the following as being prohibited by the Genetic Information Nondiscrimination Act (GINA)?

Use of genetic information to establish insurance eligibility

The nurse is conducting a community education class on genetics and genomics. The nurse explains that a chromosomal difference that involves an extra or missing chromosome is known as

aneuploidy

A nurse is working with a client who is undergoing genetic testing. What would be the nurse's responsibilities with the health teaching? Select all that apply.

obtaining the client's family history advocating for confidentiality of the results educating the client about the testing procedures helping the client understand the complexity of genetic testing

The nurse is evaluating a client's drug blood concentration for a medication. The client is identified as a cytochrome P450 (CYP) ultrarapid metabolizer. The nurse anticipates that the client's drug blood concentration will be

subtherapeutic.

The nurse is conducting an educational program for unlicensed personnel on the Health Insurance Portability and Accountability Act (HIPAA) of 1996. The nurse determines that the unlicensed personnel understand HIPAA when they state that it prohibits

the use of genetic information to establish insurance eligibility.