Ch 8 S/S Genetic Assessment
A nursing student is preparing an oral presentation about autosomal recessive inheritance. What must occur for an offspring to demonstrate signs and symptoms of the disorder with this type of inheritance?
Both parents must be heterozygous carriers.
A pregnant woman reports hearing about genetic analysis done on skin cells and wants to have it done. The nurse informs her that she is only at 8 weeks and it is too early for this test. When should the nurse tell this patient that this test can be performed?
15th week
A pregnant client who is planning to have genetic testing asks the nurse when she should schedule her amniocentesis. What should the nurse tell the client?
16 weeks
A nursing instructor is teaching students about genetic disorders and briefly discusses how women can arrange to have a newborn's cord blood frozen and banked. What does the instructor tell students that this blood may be used for in the future?
bone marrow transplantation
A nurse is preparing a presentation for a group of new nurses about the potential for misuse of genetic discoveries and advances. Which aspect would the nurse most likely address?
individual risk profiling and confidentiality
Nurses are expected to know how to use the first genetic test. What is it?
the family history
A nurse is counseling a couple who have a 5-year-old daughter with Down syndrome. The nurse recognizes that their daughter's genome is represented by which chromosome combination?
47XX21+
While talking with a pregnant woman who has undergone genetic testing, the woman informs the nurse that her baby will be born with Down syndrome. The nurse understands that Down syndrome is an example of:
trisomy numeric abnormality.
A nurse is providing education related to genetic testing. What would be the benefits that the nurse would explain to the client? Select all that apply.
ethnically tied diseases inborn errors of metabolism
Girls with Turner syndrome will usually exhibit:
short stature.
Which question would be most important for a nurse to ask a G2 P1 client who has a child with sickle cell anemia?
"Did you and your partner get genetic testing?"
When educating parents on recessive genetic disease statistics, the nurse understands that which statement by the parents indicates an accurate understanding of genetic inheritance?
"Each child will have a 25% chance of developing the disease."
A Catholic nurse who works in a genetics clinic is counseling a couple who has just been told that their baby has a genetic disorder. The couple states that they would like to terminate the pregnancy. What is the most appropriate response by the nurse?
"Here is a list of resources for you to contact."
The nurse is teaching a couple about the pros and cons of genetic testing. Which statement by the nurse best describes the limits of genetic testing?
"Some genetic tests can give a probability for developing a disorder."
A couple has just been notified that their unborn child carries a genetic disorder. The couple expresses concern that the insurance company will not cover the costs associated with the medical bills for the child. What is the most appropriate response by the nurse?
"There are laws in place that prohibit that from happening."
A 4-year-old child is recently diagnosed with Wilms tumor. The health care provider suggests that the child's siblings have genetic testing performed. What is the best response by the nurse when explaining this to the parents?
"Wilms tumor is associated with a genetic link to chromosome 11; with early detection and treatment there are better outcomes."
An Rh-negative patient is having an amniocentesis. What is the highest priority nursing intervention to perform immediately after the procedure?
Administer Rh immune globulin.
A client who has one child with a genetic disorder tells the nurse, "I told my husband I was ready to have another baby and now he does not want to be intimate with me." What is the most appropriate nursing diagnosis for this client?
Altered sexuality pattern related to fear
What does the genetic analysis always include?
Assessment for any other potentially inherited condition
The nurse in the genetics clinic is gathering a family history. The client has asked a question about inheritance and genetics which requires the nurse to investigate further. Which action would be most appropriate for the nurse do?
Complete the family history then conduct a health history along with physical and developmental assessments.
A client is undergoing a genetic test involves microscopic examination of metaphase chromosomes. The nurse determines that which of the following is being done?
Cytogenetic analysis
A nurse is caring for a client who has just been told that her unborn baby carries a genetic disorder associated with significant health related issues. The client asks, "Should I kill the baby?" What is the most appropriate nursing diagnosis for this client?
Decisional conflict related to continuation of pregnancy
Nondisjunction of a chromosome results in which diagnosis?
Down syndrome
A patient in her late twenties visits the clinic to begin the process of in vitro fertilization (IVF). Her husband in his late fifties asks if there are any tests to check for any irregularities. What tests should the nurse discuss with this couple?
Examination of egg and sperm
After the nurse describes fetal circulation to a pregnant woman, the woman asks why her fetus has a different circulation pattern than hers. When responding to the client, the nurse integrates understanding of what information?
Fetal circulation carries highly oxygenated blood to vital areas first.
When describing genetic disorders to a group of couples planning to have children, the nurse would identify which as an example of an autosomal dominant inheritance disorder?
Huntington disease
A nurse overhears a colleague tell a client that based on the genetic testing results she should terminate the pregnancy. Which action is most appropriate for the nurse to take?
Immediately stop the nurse.
A Spanish-speaking couple comes in for genetic testing. They are planning to start a family and are concerned because the wife's sister has a genetic disorder. The clinic's consent form is in English and the husband is speaks only Spanish. The nurse does not speak Spanish. What should the nurse do?
Informing the geneticist that the couple cannot give informed consent
A new patient has come to the clinic. While the nurse is taking the patient's history, the patient tells the nurse she is trying to get pregnant and she is very fearful she will have another miscarriage. She states she has lost two pregnancies and she shares with the nurse that she does not know why she lost the babies. Based on this patient's history, what recommendation should the nurse make at the present time?
Instruct her on chromosome testing studies
A couple has just learned that their unborn son has a chromosome disorder that results in an extra X chromosome. The primary care provider explains that secondary sex characteristics will not develop in this child at puberty and that his testes will remain small and produce ineffective sperm. The nurse recognizes that this child likely has:
Klinefelter syndrome.
A nurse is talking to a group of young couples who wish to conceive. One young woman asks the nurse if any tests predict fetal abnormalities. Which of the following tests should the nurse include in the discussion? (Select all that apply.)
MSAFP CVS Amniocentesis
A nurse working as a member of a genetic counseling team understands that her careful assessment of which body areas in a newborn may provide important indications for structural genetic disorders?
Space between the eyes, the shape of the ears, and the numbers of fingers and toes
A pregnant woman of Jewish descent comes to the clinic for counseling and tells the nurse that she is worried her baby may be born with a genetic disorder. Which disease does the nurse identify to be a risk for this client's baby based on the family's ancestry?
Tay-Sachs
A nurse is conducting an in-service program for a group of perinatal nurses. After teaching the group about autosomal dominant and recessive inheritance patterns, the nurse determines that the group needs additional teaching when they identify which condition as an example of an autosomal dominant disorder?
Tay-Sachs disease
A recently married couple come to the prenatal clinic because they are concerned about genetic testing. The husband is of Jewish heritage. What testing should the nurse recommend to the couple?
Tay-Sachs disease
Women having in vitro fertilization (IVF) can have both the egg and sperm examined for genetic disorders of single gene or chromosome concerns before implantation.
True
A nurse assesses that a 15-year-old female client has not developed secondary sexual characteristics, is short in stature, and has a webbed neck. The nurse identifies this as being most likely related to which diagnosis?
Turner syndrome
A pregnant client has heard about Down syndrome and wants to know about the risk factors associated with it. What would the nurse include as a risk factor?
advanced maternal age
A pregnant client is scheduled to undergo percutaneous umbilical blood sampling. The nurse understands that this test will be done in conjunction with which procedure?
amniocentesis
To screen for chromosomal disorders, a 39-year-old woman is scheduled for a circulating cell-free DNA test. What type of test is this?
blood specimen collection
A 40-year-old client is in her 10th week of pregnancy. So far, her pregnancy appears to be healthy, with no abnormal results from standard diagnostic tests. Because of her age, however, the nurse would anticipate that the client is a candidate for which diagnostic tests? Select all that apply.
chorionic villi sampling amniocentesis
The nurse is developing a presentation for a community group of young adults discussing fetal development and pregnancy. The nurse would identify that the sex of offspring is determined at the time of:
fertilization.
Prenatal testing is used to assess for genetic risks and to identify genetic disorders. In explaining to a couple about an elevated alpha-fetoprotein screening test result, the nurse would discuss the need for:
further, more definitive evaluations to conclude anything.
A client who is 37 years of age presents to the health care clinic for her first prenatal checkup. Due to her advanced age, the nurse should prepare to talk with the client about her increased risk for what complication?
genetic disorders
A woman is undergoing testing which provides a picture-like analysis of the number, form, and size of the woman's chromosomes. The nurse identifies this as:
karyotyping.
A woman has just given birth to a healthy term newborn. Upon assessing the umbilical cord, the nurse would identify what findings as normal? Select all that apply.
one vein two arteries
A clinic nurse is asked by a patient receiving genetic counseling about symptoms related to Turner syndrome. Which manifestation would the nurse most likely include? Select all that apply.
short stature streak ovaries infertility webbed neck
When conducting a health history for an infant child with a presumed genetic disorder, what family members with the nurse gather information on? Select all that apply.
siblings parents grandparents
When discussing reproductive options with a couple in which the female is a carrier of a genetic disorder, what are the most appropriate suggestions by the nurse? Select all that apply.
surrogate mother alternative insemination transfer surrogate egg donor natural conception sterilization
While talking with a pregnant woman who has undergone genetic testing, the woman informs the nurse that her baby will be born with Down syndrome. The nurse understands that Down syndrome is an example of a:
trisomy numeric abnormality.
A nurse is interviewing a couple at a preconception counseling session. The couple is of Greek heritage and are concerned about the possibility of their children being born with a genetic disorder. Based on the nurse's understanding of genetic disorders, the nurse would identify this couple as being at risk for which conditon?
β-thalassemia