Chapter 8: The Nursing Role in Genetic Assessment and Counseling

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? 10 weeks 24 weeks 30 weeks 16 weeks

16 weeks

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 paternal age recurrent miscarriages advanced maternal age family history of condition

advanced maternal age

Which condition is the most commonly occurring chromosomal disorder? trisomy 21 fragile X Klinefelter syndrome Turner syndrome

trisomy 21

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 does not have the gene, then his daughter will not have rickets." "If the father has the gene, then his son will not 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 his daughter will have rickets."

"If the father has the gene, then there is a 50% chance his son will have rickets."

A woman with sickle cell anemia has just found out that she is 6 weeks' pregnant. The woman is being scheduled for chorionic villus testing to determine her child's risk for sickle cell anemia. The nurse would inform the woman that the earliest time she may undergo this test would be at which week of gestation? 10 weeks 15 weeks 16 weeks 18 weeks

10 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? 38-year-old client whose partner is 43 years of age and who have a child diagnosed with hypoplastic left heart syndrome 36-year-old client with thalassemia whose partner is 55 years of age and who have a son with Duchenne muscular dystrophy 28-year-old client diagnosed with hemophilia whose partner is 38 years of age and has hypertension 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+ 47XY21+ 46XX 46XX5p-

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 46XY 45XY 46XXY

47XXY

A genetic nurse is taking a health history for a 1-month-old male client with Edwards syndrome. How will the nurse note this genetic disorder in the documentation? 47XX18- 47XY18+ 47XX18+ 47XY18-

47XY18

A woman at high risk for having a baby with a genetic disorder has chosen to have chorionic villi sampling (CVS) instead of amniocentesis. At which point in her pregnancy is this test performed? 12 weeks 8 to 10 weeks 4 to 6 weeks 16 weeks

8 to 10 weeks

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 sickle cell disease phenylketonuria cystic fibrosis

Huntington disease

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. Turner syndrome. Fragile X syndrome. Down syndrome.

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 CBC Lipid panel

MSAFP CVS Amniocentesis

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? Call the couple and tell them the truth. Do nothing; it is not the nurse's decision. Report it to the nursing supervisor. Call the medical review board.

Report it to the nursing supervisor.

In evaluating expected outcomes of a client, what might a nurse consider priority when working with genetic counseling? (Select all that apply.) The couple receives test results timely. The couple states understanding of inheritance. The couple need no further information. The couple is happily married. The couple demonstrates positive coping skills.

The couple receives test results timely. The couple states understanding of inheritance. The couple demonstrates positive coping skills.

A nurse is conducting a presentation about genetics and genetic conditions for a group of couples who are receiving preconception care. The nurse is describing the concepts associated with inheritance. The nurse determines that the teaching was successful when the group describes a person's phenotype using which statement? a person's outward appearance a person's actual gene composition a person's complete set of genes a person who has two like genes for a trait

a persons outward appearance

An Rh-negative patient is having an amniocentesis. What is the highest priority nursing intervention to perform immediately after the procedure? Observe the patient's vital signs for 2 hours. Administer Rh immune globulin. Observe fetal heart rate for 90 minutes. Monitor for labor contractions for 1 hour.

administer Rh immune globin

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 Ineffective coping related to personal issues Hopelessness related to increased tension Risk for loneliness related to lack of communication

altered sexuality pattern related to fear

Assessment reveals that a couple is at risk for having a child with a genetic disorder that would arise from the mother. After teaching the couple about reproductive alternatives, the nurse determines that additional discussion is needed when the couple identifies which alternative as being appropriate? alternative insemination by donor surrogate embryo transfer surrogate mother adoption

alternative insemination by donor

A couple at a fertility clinic informs the nurse that they have had genetic counseling and are afraid to get pregnant because the husband is a carrier of several genetic disorders. They still very much, however, want to have a child biologically related. What would be the best choice for the nurse to recommend to this couple? Artificial insemination by donor (AID) Surrogate embryo transfer Trying to get pregnant without other interventions Adoption

artificial insemination by donor (AID)

hat 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

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? blood transfusions bone marrow transplantation diagnostic tests future problems with bleeding

bone marrow transplantation

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 must have the disease. One parent, usually the mother, must be a carrier. One parent, usually the father, must not be a carrier or have the disease.

both parents must be carriers

A couple asks the nurse what color eyes their baby will have if the mother has brown eyes and the father has blue eyes. What is the best response by the nurse? blue hazel differing brown

brown

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. Notify insurance companies of test results. Share with the client the nurse's opinion when asked. Explain the results of the testing to the client.

clarify values and goals for the couple

A client is undergoing a genetic test involves microscopic examination of metaphase chromosomes. The nurse determines that which of the following is being done? Direct molecular analysis Linkage analysis Cytogenetic analysis Biochemical assays

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? Fear related to birth of a baby Situational low self-esteem Deficient knowledge related to inheritance pattern Decisional conflict related to continuation of pregnancy

decisional conflict related to continuation of pregnancy

Which question would be most important for a nurse to ask a G2P1 client who has a child with sickle cell anemia? "When was your last exacerbation?" "Have you done well to control your stress?" "Do you know the sex of your baby?" "Did you and your partner get genetic testing?"

did you and your partner get genetic testing

A nurse is providing education related to genetic testing. Which benefits of genetic testing would the nurse explain to the client? Select all that apply. diseases tied to ethnicity and race psychosocial disorders inborn errors of metabolism phenotype learning disorders

diseases tied to ethnicity and race inborn errors of metabolism

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? "Does anyone in your or the father's family have any genetic disorders?" "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?" "Was your mother or grandmother diagnosed with gestational diabetes?"

does anyone in you or the fathers family have any genetic disorders

A client of African descent at 12 weeks' gestation states concern about her fetus having a genetic disorder. Which statement by the nurse is most appropriate? "You will be tested soon to see if anything is wrong with your baby." "Does anyone in your or your partner's families have a genetic disorder?" "Are you wanting to terminate the pregnancy if a genetic disorder is found?" "Your health care provider can discuss this concern with you."

does anyone in your or your partners families have a genetic disorder

A pregnant woman undergoes a triple screen at 16 to 18 weeks' gestation. What would the nurse suspect if the woman's estriol and alpha-fetoprotein levels are decreased with high hCG levels? Down syndrome sickle-cell anemia cardiac defects respiratory disorders

down syndrome

Nondisjunction of a chromosome results in which diagnosis? Huntington disease Duchenne muscular dystrophy Marfan syndrome Down syndrome

down syndrome

A nurse is providing education to a couple who have just been told their unborn fetus has Down syndrome. The nurse should explain that this is what type of genetic abnormality? duplication translocation deletion inversion

duplication

When educating parents on recessive genetic disease statistics, the nurse understands that which statement by the parents indicates an accurate understanding of genetic inheritance? "My children will have a 50/50 chance of having a genetic disease." "If I have four children, only one will have the disease." "With each child the odds of inheritance decrease significantly." "Each child will have a 25% chance of developing the disease."

each child will have a 25% chance of developing the disease

A newborn is diagnosed with Turner syndrome. When assessing this child, the nurse would most likely assess which finding? edematous hands and feet cat-like cry small head wide-set eyes

edematous hands and feet

During a prenatal class for a group of new mothers, the nurse is describing the hormones produced by the placenta. What hormones would the nurse include? Select all that apply. prolactin estriol relaxin progestin human chorionic somatomammotropin

estriol relaxin progestin human chorionic somatomammotropin

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: special care needed for a Down syndrome infant. a more specific determination of the acid-base status. further, more definitive evaluations to conclude anything. immediate termination of the pregnancy based on results.

further more definitive evaluations to conclude anything

Genetics-related health care is basic to the holistic practice of nursing. What should nursing practice in genetics include? identifying genetic markers gathering relevant family and medical history information providing advice on termination of pregnancy discouraging females to conceive after the age of 40 years

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 preterm labor gestational diabetes cervical insufficiency

genetic disorders

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 am ethically bound to tell your family and your fiancé." "Your information will remain confidential until the geneticist reviews everything. Then he will have to tell your family." "Have you thought about what this disease will do to the person you are going to marry and any children you may have?" "I will respect your wishes and keep your information confidential. I do wish you would reconsider though."

i will respect your wished and keep your information confidential. I do wish you would reconsider though

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. Call the client later and apologize. Contact the health care provider. Tell the unlicensed assistive personnel

immediately stop the nurse

A 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 only the wife is literate in English. The nurse does not speak the clients' first language. What should the nurse do? Inform the couple they just need to sign so the testing could be done. Inform the geneticist that the couple cannot give informed consent. Let the wife translate for her husband. Explain the form to the clients in English and have them sign it.

inform the geneticist that the couple cannot give informed consent

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 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 Tell the client to have an amniocentesis with the next pregnancy

instruct the client on chromosome testing studies

A nurse is providing teaching to a prenatal class on genetic testing. Which factor should the nurse include as placing a couple at a higher risk for having a child with a genetic disorder? Select all that apply. paternal thyroid disease maternal age of greater than 35 years paternal obesity family history of genetic disorder maternal type 1 diabetes

maternal age of greater than 35 years family history of genetic disorders

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 Klinefelter syndrome Patau syndrome Turner syndrome

turner syndrome

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: X-linked inheritance. autosomal recessive inheritance. autosomal dominant inheritance. multifactorial inheritance.

multifactorial inhertiance

A nursing student correctly identifies that a person's outward appearance or expression of genes is referred to as the: allele. phenotype. genotype. genome.

phenotype

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. placental pre-embryonic umbilical embryonic fetal

pre-embryonic embryonic fetal

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? Gather information for three generations. Inform the family of the need for information. Maintain the confidentiality of the information. Present the information in a factual, nondirective manner.

present the information in a factual non directive manner

When educating parents on the incidence of genetically associated childhood cancers, the nurse will discuss which cancers? Select all that apply. retinoblastoma Wilms tumor neuroblastoma osteomyeloma acute myeloid leukemia

retinoblastoma Wilms tumor neuroblastoma

Girls with Turner syndrome will usually exhibit: short stature. painful joints. progressive dementia. chorea-like movements.

short stature

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 Length, weight, and head circumference Presence or absence of primitive reflexes Color of the eyes, skin color, and parent's race

space between the eyes, the shape of the ears, and the number 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? sickle cell anemia beta-thalassemia Tay-Sachs disease Down syndrome

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 Down syndrome cystic fibrosis Turner syndrome

tay-sachs disease

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. The child is kept in a day care setting. The child stays at home with a parent. The child is placed in a home facility.

the child is enrolled in kindergarten

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? "The insurance company may consider it a preexisting condition since you know." "There are laws in place that prohibit that from happening." "The insurance company may ask you to change policies once the baby is born." "They will charge you a higher premium every month."

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? "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." "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 pregnant client asks the nurse if the fetus can be tested for Down syndrome. Which statement by the nurse is most appropriate? "Yes, a chromosomal analysis can be done to assess for Down syndrome." "Of course. The primary health care provider can prescribe a DNA analysis for this." "You need to be sure you want to know this information before you think about being tested." "When you have ultrasounds done, they look for signs of Down syndrome."

yes a chromosomal analysis can be done to assess for down syndrome

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 α-thalassemia sickle cell anemia Tay-Sachs disease

β-thalassemia