Prep U Chapter 7: The Nursing Role in Genetic Assessment and Counseling
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 advanced paternal age family history of condition recurrent miscarriages
advanced maternal age
The nurse is conducting an initial history and assessment on a client at 10 weeks' gestation who is pregnant with her first child. Which question is a priority for the nurse to ask the client at this time? "Was your mother or grandmother diagnosed with gestational diabetes?" "Are you planning to develop a birth plan for use during the birthing process?" "Do you plan to breastfeed or bottle feed your new baby?" "Does anyone in your or the father's family have any genetic disorders?"
"Does anyone in your or the father's family have any genetic disorders?"
The nurse is conducting an initial history and assessment on a client at 10 weeks' gestation who is pregnant with her first child. Which question is a priority for the nurse to ask the client at this time? "Was your mother or grandmother diagnosed with gestational diabetes?" "Do you plan to breastfeed or bottle feed your new baby?" "Are you planning to develop a birth plan for use during the birthing process?" "Does anyone in your or the father's family have any genetic disorders?"
"Does anyone in your or the father's family have any genetic disorders?"
When educating parents on recessive genetic disease statistics, the nurse understands that which statement by the parents indicates an accurate understanding of genetic inheritance? "If I have four children, only one will have the disease." "My children will have a 50/50 chance of having a genetic disease." "Each child will have a 25% chance of developing the disease." "With each child the odds of inheritance decrease significantly."
"Each child will have a 25% chance of developing the disease."
The nurse is seeing a client who is going to be married in a month. This client has a history of Huntington disease in her family. The genetic testing has come back, and the client has just been told she carries the gene for Huntington disease and will develop the disease when she gets older. The client asks the nurse if this information is confidential and if it will remain that way. The nurse explains to the client that her family should be told and so should her fiancé. The client forcefully tells the nurse "no." She is not going to tell either her family or her fiancé. What is the nurse's best response? "I will respect your wishes and keep your information confidential. I do wish you would reconsider though." "I am ethically bound to tell your family and your fiancé." "Have you thought about what this disease will do to the person you are going to marry and any children you may have?" "Your information will remain confidential until the geneticist reviews everything. Then he will have to tell your family."
"I will respect your wishes and keep your information confidential. I do wish you would reconsider though."
The nurse is counseling a couple who are concerned about vitamin D-resistant rickets, an X-linked dominant disorder, because a member of the father's family has this disorder. The mother does not have the gene for vitamin D-resistant rickets. Which statement by the couple indicates that more teaching is necessary? "If the father has the gene, then his son will not have rickets." "If the father does not have the gene, then his daughter will not have rickets." "If the father has the gene, then his daughter will have rickets." "If the father has the gene, then there is a 50% chance his son will have rickets."
"If the father has the gene, then there is a 50% chance his son will have rickets."
A young couple who underwent preconceptual genetic testing is at high risk for having a child with Down syndrome and have decided not to have children. Which response by the nurse is most appropriate? "If you would like to discuss this further, here is the contact information for the genetic counseling center." "To still have a child of your own, you should consider asking a friend or family member to be a surrogate." "You always have the option to adopt a child if you are really wanting to become parents." "The health care provider can refer you for a second opinion if you are not happy with these results."
"If you would like to discuss this further, here is the contact information for the genetic counseling center."
A pregnant client is having amniocentesis for karyotyping after an abnormal quad screen. What statement by the nurse best describes the purpose of karyotyping for this client? "Karyotyping will provide information about the number and structure of chromosomes." "Karyotyping will test if the baby's lungs are mature." "Karyotyping will determine if the baby is developing normally." "Karyotyping will detect any physical anomalies in the baby."
"Karyotyping will provide information about the number and structure of chromosomes."
A pregnant client is having amniocentesis for karyotyping after an abnormal quad screen. What statement by the nurse best describes the purpose of karyotyping for this client? "Karyotyping will test if the baby's lungs are mature." "Karyotyping will determine if the baby is developing normally." "Karyotyping will detect any physical anomalies in the baby." "Karyotyping will provide information about the number and structure of chromosomes."
"Karyotyping will provide information about the number and structure of chromosomes."
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? "The health care provider just wants to make sure there are not any other diseases in the family genes." "Your child has a benign tumor. The testing is not necessary, and I would suggest that you don't put your children through it." "Wilms tumor is associated with a genetic link to chromosome 11; with early detection and treatment there are better outcomes." "The tumor is a collection of fat cells in the body that just collect in that one spot. The testing will see if the other children will develop that as well."
"Wilms tumor is associated with a genetic link to chromosome 11; with early detection and treatment there are better outcomes."
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? "The tumor is a collection of fat cells in the body that just collect in that one spot. The testing will see if the other children will develop that as well." "The health care provider just wants to make sure there are not any other diseases in the family genes." "Your child has a benign tumor. The testing is not necessary, and I would suggest that you don't put your children through it." "Wilms tumor is associated with a genetic link to chromosome 11; with early detection and treatment there are better outcomes."
"Wilms tumor is associated with a genetic link to chromosome 11; with early detection and treatment there are better outcomes."
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? "The tumor is a collection of fat cells in the body that just collect in that one spot. The testing will see if the other children will develop that as well." "Your child has a benign tumor. The testing is not necessary, and I would suggest that you don't put your children through it." "Wilms tumor is associated with a genetic link to chromosome 11; with early detection and treatment there are better outcomes." "The health care provider just wants to make sure there are not any other diseases in the family genes."
"Wilms tumor is associated with a genetic link to chromosome 11; with early detection and treatment there are better outcomes."
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? "Your child has a benign tumor. The testing is not necessary, and I would suggest that you don't put your children through it." "The health care provider just wants to make sure there are not any other diseases in the family genes." "The tumor is a collection of fat cells in the body that just collect in that one spot. The testing will see if the other children will develop that as well." "Wilms tumor is associated with a genetic link to chromosome 11; with early detection and treatment there are better outcomes."
"Wilms tumor is associated with a genetic link to chromosome 11; with early detection and treatment there are better outcomes."
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 client that this test can be performed? 12th week 15th week 28th week 20th week
15th week
The nurse is caring for four pregnant clients. Which client will the nurse highlight for the health care provider as being at highest risk for carrying a child with a genetic abnormality? 38-year-old client whose partner is 43 years of age and who have a child diagnosed with hypoplastic left heart syndrome 28-year-old client diagnosed with hemophilia whose partner is 38 years of age and has hypertension 36-year-old client with thalassemia whose partner is 55 years of age and who have a son with Duchenne muscular dystrophy 17-year-old client diagnosed with schizophrenia whose partner is 15 years of age and has type 2 diabetes
36-year-old client with thalassemia whose partner is 55 years of age and who have a son with Duchenne muscular dystrophy
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+ 46XX 47XY21+ 46XX5p-
47XX21+
The nurse cares for multiple clients planning to have children. Which client will the nurse identify as priority for needing a referral for prenatal genetic testing? A male client who is 45 years of age A female client diagnosed with diabetes mellitus A male client with family history of sickle cell disease A female client who is 38 years of age
A male client with family history of sickle cell disease
An Rh-negative client is having an amniocentesis. What is the highest priority nursing intervention to perform immediately after the procedure? Observe the client's vital signs for 2 hours. Monitor for labor contractions for 1 hour. Observe fetal heart rate for 90 minutes. Administer Rh immune globulin.
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's husband? Ineffective coping related to personal issues Risk for loneliness related to lack of communication Altered sexuality pattern related to fear Hopelessness related to increased tension
Altered sexuality pattern related to fear
A client asks about a child inheriting an autosomal recessive disorder. What must occur for an offspring to demonstrate signs and symptoms of the disorder with this type of inheritance? Both parents must be carriers. One parent, usually the father, must not be a carrier or have the disease. One parent must have the disease. One parent, usually the mother, must be a carrier.
Both parents must be carriers.
A client asks about a child inheriting an autosomal recessive disorder. What must occur for an offspring to demonstrate signs and symptoms of the disorder with this type of inheritance? Both parents must be carriers. One parent, usually the mother, must be a carrier. One parent, usually the father, must not be a carrier or have the disease. One parent must have the disease.
Both parents must be carriers.
A client is undergoing genetic testing and counseling. What is the responsibility of the nurses during this process? Notify insurance companies of test results. Explain the results of the testing to the client. Clarify values and goals for the couple. Share with the client the nurse's opinion when asked.
Clarify values and goals for the couple.
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 Situational low self-esteem Deficient knowledge related to inheritance pattern Fear related to birth of a baby
Decisional conflict related to continuation of pregnancy
Nondisjunction of a chromosome results in which diagnosis? Down syndrome Duchenne muscular dystrophy Marfan syndrome Huntington disease
Down syndrome
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? Call the client later and apologize. Immediately stop the nurse. Tell the unlicensed assistive personnel Contact the health care provider.
Immediately stop the nurse.
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? Contact the health care provider. Tell the unlicensed assistive personnel Immediately stop the nurse. Call the client later and apologize.
Immediately stop the nurse.
A new client has come to the clinic. While the nurse is taking the client's history, the client tells the nurse she is trying to get pregnant and she is very fearful she will have another miscarriage. The client states she has lost two pregnancies and she shares with the nurse that she does not know why this occurred. Based on this client's history, what recommendation is best for the nurse to make at the present time? Tell the client to have an amniocentesis with the next pregnancy Instruct the client to continue to try to get pregnant Let the client know that her loss may not occur again Instruct the client on chromosome testing studies
Instruct the client on chromosome testing studies
A new client has come to the clinic. While the nurse is taking the client's history, the client tells the nurse she is trying to get pregnant and she is very fearful she will have another miscarriage. The client states she has lost two pregnancies and she shares with the nurse that she does not know why this occurred. Based on this client's history, what recommendation is best for the nurse to make at the present time? Tell the client to have an amniocentesis with the next pregnancy Let the client know that her loss may not occur again Instruct the client to continue to try to get pregnant Instruct the client on chromosome testing studies
Instruct the client on chromosome testing studies
A client presents to the hospital experiencing a spontaneous abortion (miscarriage) at 8 weeks' gestation, which is the third spontaneous abortion (miscarriage) in 2 years. The health care provider offers to send the products of conception for genetic testing. The client expresses not understanding the reason for this action. How does the nurse explain? If you do not want to have this testing done, we will respect that decision. This testing will help to determine if your hormone levels are causing the recurrent spontaneous abortions (miscarriages). It will reassure you to find out if the baby had anomalies that were not compatible with life. Many spontaneous abortions (miscarriages) occur due to chromosomal disorders and this testing may determine if this is the cause.
Many spontaneous abortions (miscarriages) occur due to chromosomal disorders and this testing may determine if this is the cause.
A nurse is present when a health care provider tells a couple that the results of their genetic testing came back normal. Later, the nurse notes that the completed genetic report identifies the couple positive for a genetic disorder. What is the most appropriate action by the nurse? Report it to the nursing supervisor. Call the medical review board. Do nothing; it is not the nurse's decision. Call the couple and tell them the truth.
Report it to the nursing supervisor.
In evaluating expected outcomes of a client, what might a nurse consider a priority when working with genetic counseling? (Select all that apply.) The couple states understanding of inheritance. The couple receives test results timely. The couple demonstrates positive coping skills. The couple is happily married. The couple needs no further information.
The couple receives test results timely. The couple states understanding of inheritance. The couple demonstrates positive coping skills.
Parents of a newborn have recently found out that their infant has a genetic disorder. The parents say to the nurse, "It is not fair that this is happening to us." After interpreting this statement, the nurse will plan care after identifying which parental status? The parents have a lack of understanding about the diagnosis. The parents are in overall shock about the diagnosis. The parents are angry that a genetic disorder has happened. The parents are accepting of the diagnosis and care which will be needed.
The parents are angry that a genetic disorder has happened.
A client is offered preconception genetic testing but reports being worried about the results preventing access to health insurance in the future. How does the nurse respond? Your employer is not allowed to know about your genetic test results, so this cannot influence your health insurance. This is a good concern to discuss with your genetic counselor. There are laws that prevent discrimination related to genetic information for health insurance. It would be best to arrange for health and life insurance before getting your genetics results.
There are laws that prevent discrimination related to genetic information for health insurance.
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? Edwards syndrome Patau syndrome Turner syndrome Klinefelter syndrome
Turner syndrome
What does the genetic analysis always include? interventions for other potentially inherited conditions evaluation of other potentially inherited conditions planning for other potentially inherited conditions assessment for any other potentially inherited condition
assessment for any other potentially inherited condition
What does the genetic analysis always include? interventions for other potentially inherited conditions planning for other potentially inherited conditions evaluation of other potentially inherited conditions assessment for any other potentially inherited condition
assessment for any other potentially inherited condition
There are many steps in the process of genetic counseling and testing. Put these steps in the correct chronological order from first to last. All options must be used. Click an option, hold and drag it to the desired position, or click an option to highlight it and move it up or down in the order using the arrows to the left. 1amniocentesis 2physical examination of parents 3support couple in adjusting to diagnosis 4explain results of genetic testing 5assessment of family history 6nuchal translucency screening SUBMIT ANSWER
assessment of family history physical examination of parents nuchal translucency screening amniocentesis explain results of genetic testing support couple in adjusting to diagnosis
The nurse is performing a newborn examination. What assessment finding by the nurse may identify potential chromosomal anomalies? presence of acrocyanosis flexed muscle tone ears set below the level of the eyes two creases of the palms
ears set below the level of the eyes
The nurse completes an initial assessment for a newborn (above). The parents declined prenatal genetic screening. What does the nurse anticipate in the health care provider's prescription for this newborn? Select all that apply. chromosomal analysis renal ultrasound amniocentesis urinalysis echocardiogram
echocardiogram chromosomal analysis
Genetics-related health care is basic to the holistic practice of nursing. What should nursing practice in genetics include? gathering relevant family and medical history information providing advice on termination of pregnancy identifying genetic markers discouraging females to conceive after the age of 40 years
gathering relevant family and medical history information
Genetics-related health care is basic to the holistic practice of nursing. What should nursing practice in genetics include? identifying genetic markers providing advice on termination of pregnancy discouraging females to conceive after the age of 40 years gathering relevant family and medical history information
gathering relevant family and medical history information
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 cervical insufficiency preterm labor gestational diabetes
genetic disorders
The nurse completes an assessment on a newborn. Which finding will the nurse report to the primary health care provider? a blue eye color with fair skin color and milia noted on the bridge of the nose presence of the Moro reflex, palmar grasp, and tonic neck reflex length 16 in (40.6 cm), almond-shaped eyes, and ears that appear small length 20 in (50 cm), weight 8 lb (3.6 kg), and head circumference 13 in (33 cm)
length 16 in (40.6 cm), almond-shaped eyes, and ears that appear small
The nurse completes an assessment on a newborn. Which finding will the nurse report to the primary health care provider? length 20 in (50 cm), weight 8 lb (3.6 kg), and head circumference 13 in (33 cm) a blue eye color with fair skin color and milia noted on the bridge of the nose presence of the Moro reflex, palmar grasp, and tonic neck reflex length 16 in (40.6 cm), almond-shaped eyes, and ears that appear small
length 16 in (40.6 cm), almond-shaped eyes, and ears that appear small
Prenatal testing is used to assess for genetic risks and to identify genetic disorders. In explaining to a couple about an elevated maternal serum alpha-fetoprotein screening test result, the nurse would discuss the need for: immediate termination of the pregnancy based on results. special care needed for a Down syndrome infant. a more specific determination of the acid-base status. more definitive evaluations to conclude anything.
more definitive evaluations to conclude anything.
After teaching a class on the stages of fetal development, the nurse determines that the teaching was successful when the group identifies which stages? Select all that apply. embryonic placental fetal pre-embryonic umbilical
pre-embryonic embryonic fetal
Girls with Turner syndrome will usually exhibit: short stature. painful joints. chorea-like movements. progressive dementia.
short stature.
To screen for chromosomal disorders, a 39-year-old pregnant client is scheduled for a circulating cell-free DNA test. Which equipment will the nurse gather for testing? tourniquet, needle, and blood tube for specimen collection collection tube, blade, and cotton swab to obtain a skin scraping perineal wipes and a urine specimen sterile cup povidone-iodine swabs, an ultrasound machine, and amniocentesis needle
tourniquet, needle, and blood tube for specimen collection
A client has had chorionic villus sampling as part of a diagnostic workup for a genetic disorder. Which finding(s) will the nurse instruct the client to report immediately? Select all that apply. vaginal bleeding urinary frequency leg cramps uterine cramping headache
uterine cramping vaginal bleeding
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 condition? α-thalassemia β-thalassemia Tay-Sachs disease sickle cell anemia
β-thalassemia
