[OB] PrepU: Genetic Assessment & Counseling: Chapter 7

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 couple has just learned that their son will be born with Down syndrome. The nurse shows a lack of understanding when making which statement?

"I will alert your entire family about this so you don't have to."

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."

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."

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 nurse is teaching the parents of a male child recently diagnosed with Klinefelter syndrome about the disorder and its treatment. The nurse determines that more teaching is needed based on which parental statement?

"Taking testosterone will correct this problem."

A nurse is caring for a couple receiving preconception care. The couple has a family history of a genetic disorder and is determining their risk of the same disorder in their future children. The couple states. "I am afraid to hear what the phenotype will indicate." Which statement by the nurse is appropriate?

"The phenotype will determine the newborn's outward appearance, not risk for a specific 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."

The 27-year-old client has a positive quad screen at 16 weeks' gestation, showing a 1:300 risk of Down syndrome compared with a 1:1200 age-based risk. The client is crying and anxious about these results. How does the nurse best explain these findings?

"This test is a screen that shows increased risk but does not tell us if your baby has Down syndrome. You will be offered further testing to provide more information."

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."

Which pregnant client(s) will the nurse refer for genetic counseling? Select all that apply.

(1) 37 year old client pregnant with fifth child and no family history of genetic disorders. (2) 28 year old client whose partner has beta-thalassemia trait. (3) 22 year old client with a positive quad screen.

A client is referred for preconception genetic counseling. What material(s) should the nurse instruct the client to prepare for the appointment? Select all that apply.

(1) Any medical records available about family genetic conditions. (2) Family history with types of medical conditions.

A nurse working in a clinic that focuses on genetic counseling identifies which component as important when assessing clients for genetic disorders? Select all that apply.

(1) Health History (2) Physical examination of family members. (3) Laboratory analysis. (4) Pattern of inheritance in a family.

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.

(1) Maternal Serum Alpha-Fetoprotein Test. (2) Chorionic Villus Sampling (3) Amniocentesis

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.

(1) Pre-embryonic (2) Embryonic (3) Fetal

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.

(1) Uterine cramping (2) Vaginal bleeding.

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.

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?

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+

A genetic nurse is taking a health history for a 45-year-old male client with Klinefelter syndrome. How will the nurse note this genetic disorder in the documentation?

47XXY

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 with family history of sickle cell disease.

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

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.

An Rh-negative client is having an amniocentesis. What is the highest priority nursing intervention to perform immediately after the procedure?

Administer Rh immune globulin.

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 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?

Altered sexuality pattern related to fear.

What does the genetic analysis always include?

Assessment for any other potentially inherited condition.

A couple is discussing starting a family with the nurse. When should the nurse suggest genetic counseling?

Before they conceive

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.

A client is undergoing genetic testing and counseling. What is the responsibility of the nurses during this process?

Clarify values and goals for the couple.

Which client(s) should receive Rh immune globulin after a genetic testing procedure? Select all that apply.

Client who is Rh negative, after chorionic villus sampling at 12 weeks' gestation

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.

A nurse is caring for a pregnant client at 6 weeks' gestation whose previous child had trisomy 13 and died shortly after birth. The family expresses concern that this child will also be affected. How should the nurse advise this family?

Discuss options for genetic screening in this pregnancy to determine if the fetus is affected

A nurse is caring for a pregnant client at 6 weeks' gestation whose previous child had trisomy 13 and died shortly after birth. The family expresses concern that this child will also be affected. How should the nurse advise this family?

Discuss options for genetic screening in this pregnancy to determine if the fetus is affected.

A mother has just given birth to a baby. Assessment reveals that the color of the baby's irises is abnormal and contains white specks. The nurse would suspect which condition?

Down Syndrome

Nondisjunction of a chromosome results in which diagnosis?

Down syndrome

The nurse is performing a newborn examination. What assessment finding by the nurse may identify potential chromosomal anomalies?

Ears set below the level of the eyes.

A newborn is diagnosed with Turner syndrome. When assessing this child, the nurse would most likely assess which finding?

Edematous hands and feet.

A client in her late 20s visits the clinic to begin the process of in vitro fertilization (IVF). Her husband in his late 50s 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

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 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?

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?

Instruct the client on chromosome testing studies.

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."

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?

Many spontaneous abortions (miscarriages) occur due to chromosomal disorders and this testing may determine if this is the cause.

A 47-year-old woman with osteoarthritis and hypertension is diagnosed with breast cancer. She tells the nurse that her mother also suffered from osteoarthritis and hypertension and she developed breast cancer at the age of 51 years. The nurse explains that this could be a result of:

Multifactorial inheritance.

The nurse is counseling a couple who suspect that they could bear a child with a genetic abnormality. What would be most important for the nurse to do when working with this family?

Present the information in a factual, nondirective manner.

In developing a plan of care for a 5-year-old child with Down syndrome, what should be a priority for the nurse in meeting the expected growth and development outcomes for this child?

The child is enrolled in kindergarten.

Girls with Turner syndrome will usually exhibit:

Short stature.

A client's older child has sickle-cell anemia, an autosomal recessive disorder. The client is now pregnant with a new partner and asks about the chances of this child having sickle-cell anemia. How does the nurse respond?

Sickle-cell anemia is a recessive gene, so the child will be affected only if your new partner also carries this gene.

A woman with Jewish ancestry is pregnant. The nurse is aware that the client may be a carrier for which condition?

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. The nurse should recommend the couple undergo genetic testing to determine if the fetus has which disorder common among Ashkenazi Jews (Jews of Eastern European lineage)?

Tay-Sachs Disease.

Nurses are expected to know how to use the first genetic test. What is it?

The family history

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 are angry that a genetic disorder has happened.

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.

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

The nurse completes an assessment on a newborn. Which finding will the nurse report to the primary health care provider?

length 16 in (40.6 cm), almond-shaped eyes, and ears that appear small.

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?

β-thalassemia