Question 1

In practical terms regarding genetic health care,nurses should be aware that
A) genetic disorders equally affect people of all socioeconomic backgrounds, races, and ethnic groups.
B) genetic health care is more concerned with populations than individuals.
C) the most important related nursing function is providing emotional support to the family during counseling.
D) taking genetic histories is usually only done at large universities and medical centers.

Accepted Answer

Nurses should be prepared to help with a variety of stress reactions from a couple facing the possibility of a genetic disorder.Although anyone may have a genetic disorder,certain disorders appear more often in certain ethnic and racial groups.Genetic health care is highly individualized,because treatments are based on the phenotypic responses of the individual.Individual nurses at any facility can take a genetic history and provide basic genetic information,although larger facilities may have better support services.

Question 2

A 35-year-old woman has an amniocentesis performed to find out whether her baby has a chromosome defect.Which statement by this patient indicates that she understands her situation?
A) "The doctor will tell me if I should have an abortion when the test results come back."
B) "I know support groups exist for parents who have a baby with birth defects, but we have plenty of insurance to cover what we need."
C) "When all the lab results come back, my husband and I will make a decision about the pregnancy."
D) "My mother must not find out about all this testing. If she does, she will think I'm having an abortion."

Accepted Answer

The final decision about genetic testing and the future of the pregnancy lies with the patient.She will involve only those people whom she chooses in her decisions.The final decision about the future of the pregnancy lies with the patient only.Support groups are extremely important for parents of a baby with a defect.Insurance will help cover expenses,but the defect also takes a toll on the emotional,physical,and social aspects of the parents' lives.The nurse should ensure the woman understands that her care is confidential.

Question 3

A nurse is creating a pedigree for a couple whose son has Tay-Sachs disease.What information from the pedigree would the nurse most likely find?
A) Parental consanguinity
B) Disease has skipped a generation.
C) Only men have had this disorder.
D) Only women have had this disorder.

Accepted Answer

Parental consanguinity increases the risk for autosomal recessive disorders such as Tay-Sachs disease.The pedigree would not show the disease skipping generations.Males and females are equally affected by this disorder.

Question 4

The generalist nurse working with child-bearing families understands that his or her practice related to genetics includes which of the following? (Select all that apply.)
A) Identifying families at risk and providing referrals
B) Interpreting genetic test results for the family
C) Assessing the couple's concern about genetic alterations
D) Helping create a family tree or pedigree
E) Providing support in all phases of genetic counseling

Accepted Answer

The nurse who works with women and families in the childbearing years is in a wonderful position to help identify families at risk and provide referrals,assess concerns,create pedigrees,and provide support.Interpreting genetic test results is provided by those who have advanced training and education in that area and would not be expected of the generalist nurse.

Question 5

People who have two copies of the same abnormal autosomal dominant gene will usually be
A) more severely affected by the disorder than will people with one copy of the gene.
B) infertile and unable to transmit the gene.
C) carriers of the trait but not affected with the disorder.
D) mildly affected with the disorder.

Accepted Answer

People who have two copies of an abnormal gene are usually more severely affected by the disorder because they have no normal gene to maintain normal function.Infertility may or may not be caused by chromosomal defects.A carrier of a trait has one recessive gene.Those mildly affected with the disorder will have only one copy of the abnormal gene.

Question 6

A patient at 34 weeks of gestation has reported to the OB triage unit for assessment of oligohydramnios.The nurse assigned to care for this patient is aware that prolonged oligohydramnios may result in (Select all that apply.)
A) intrauterine limb amputations.
B) clubfoot.
C) delayed lung development.
D) other fetal abnormalities.
E) fetal deformations.

Accepted Answer

Oligohydramnios,an abnormally small volume of amniotic fluid,reduces the cushion surrounding the fetus and may result in deformations such as clubfoot.Prolonged oligohydramnios interferes with fetal lung development because it does not allow normal development of the alveoli.Oligohydramnios may not be the primary fetal problem but rather may be related to other fetal anomalies.This does not lead to intrauterine limb amputations or fetal deformations.

Question 7

A woman tells the nurse at a prenatal interview that she has quit smoking,only has a glass of wine with dinner,and has cut down on coffee to four cups a day.What response by the nurse will be most helpful in promoting lifestyle changes?
A) "You have made some great progress toward having a healthy baby. Let's talk about the changes you have made."
B) "You need to do a lot better than that. You may still be hurting your baby right now."
C) "Here are some pamphlets for you to study. They will help you find more ways to improve."
D) "Those few things won't cause any trouble. Good for you."

Accepted Answer

Praising her for making positive changes is an effective technique for motivating a patient.She still has to identify the risk factors to optimize the results so a discussion with the nurse can facilitate that.Telling her she has to do better is belittling to the patient.She will be less likely to confide in the nurse.The nurse is not acknowledging the efforts that the woman has already accomplished by simply giving her pamphlets.Those accomplishments need to be praised to motivate the woman to continue.Plus before giving written material,the nurse must assess the woman's literacy level.Alcohol and coffee consumption are still major risk factors and need to be addressed in a positive,nonjudgmental manner.

Question 8

The nurse is working in an OB/GYN office and commonly obtains patient histories and performs initial assessments.Which woman is likely to be referred for genetic counseling after her first visit?
A) A pregnant woman who will be 40 years or older when her infant is born
B) A woman whose partner is 41 years of age
C) A patient who carries a Y-linked disorder
D) An anxious woman with a normal quadruple screening result

Accepted Answer

A genetics referral should be made if the woman's (male)partner is over the age of 40 at conception.Other reasons for referral include pregnant women who will be 35 or older at the time of birth or abnormal quadruple (or other)screening results.Women do not carry Y chromosomes.

Question 9

A nurse is seeing a pregnant woman who has had genetic testing on her unborn fetus and has been given the results.The nurse notes the results confirm that the husband could not be the father.What action by the nurse is best?
A) Do not discuss this information with the mother.
B) Inform the mother genetic testing does not establish paternity.
C) Call the husband immediately to break the news.
D) Be available and offer support as the mother absorbs the news.

Accepted Answer

Genetic testing can reveal paternity; hopefully the couple was informed that this can occur before the testing was done.The nurse should offer support to the woman as she tries to absorb the news and determine what to do next.Refusing to discuss the information may leave the woman feeling abandoned and does not address her emotional needs.The nurse should not call the husband.

Question 10

Both members of an expectant couple are carriers for phenylketonuria (PKU),an autosomal recessive disorder.In counseling them about the risk to their unborn child,the nurse should tell them that
A) the child has a 25% chance of being affected.
B) the child will be a carrier, like the parents.
C) the child has a 50% chance of being affected.
D) one of four of their children will be affected.

Accepted Answer

Each child born to a couple who carries an autosomal recessive trait has a 25% chance of having the disorder,because the child receives either a normal or an abnormal gene from each parent.If one member of the couple has the autosomal recessive disorder,all of their children will be carriers.If both parents are carriers,each child has a 50% chance of being a carrier.Each child has the identical odds of being affected.

Question 11

A maternal-newborn nurse is caring for a mother who just delivered a baby born with Down syndrome.What nursing diagnosis is the most essential in caring for the mother of this infant?
A) Disturbed body image
B) Interrupted family processes
C) Anxiety
D) Risk for injury

Accepted Answer

This mother likely will experience a disruption in the family process related to the birth of a baby with an inherited disorder.Family disruption is common,and the strain of having a child with a serious birth defect may lead to divorce.Siblings may feel neglected because the child with a disorder requires more of their parents' time and attention.Women commonly experience body image disturbances in the postpartum period,but this is unrelated to giving birth to a child with Down syndrome.The mother likely will have a mix of emotions that may include anxiety,guilt,and denial,but this is not the most essential nursing diagnosis for this family.Risk for injury is not applicable.

Question 12

How can a woman avoid exposing her fetus to teratogens?
A) Update her immunizations during the first trimester of her pregnancy.
B) Use saunas and hot tubs during the winter months only.
C) Use only class A drugs during her pregnancy.
D) Use alcoholic beverages only in the first and third trimesters of pregnancy.

Accepted Answer

In well-controlled studies,class A drugs have no demonstrated fetal risk.Immunizations,such as rubella,are contraindicated in pregnancy.Maternal hyperthermia is an important teratogen.Alcohol is an environmental substance known to be teratogenic.

Question 13

A baby is born with blood type AB.The father is type A,and the mother is type B.The father asks why the baby has a blood type different from those of his parents.The nurse's answer should be based on the knowledge that
A) both A and B blood types are dominant.
B) the baby has a mutation of the parents' blood types.
C) type A is recessive and links more easily with type B.
D) types A and B are recessive when linked together.

Accepted Answer

Types A and B are equally dominant,and the baby can thus inherit one from each parent.The infant has inherited both blood types from the parents; it is not a mutation.

Question 14

Which statement is true of multifactorial disorders?
A) They may not be evident until later in life.
B) They are usually present and detectable at birth.
C) The disorders are characterized by multiple defects.
D) Secondary defects are rarely associated with multifactorial disease.

Accepted Answer

Multifactorial disorders result from an interaction between a person's genetic susceptibility and environmental conditions that favor development of the defect.They are characteristically present and detectable at birth.They are usually single isolated defects,although the primary defect may cause secondary defects.Secondary defects can occur with multifactorial disorders.

Question 15

The nurse knows that which of the following chromosomal abnormalities are structural in nature? (Select all that apply.)
A) Part of a chromosome is missing.
B) The material within a chromosome is rearranged.
C) One or more sets of chromosomes are added.
D) An entire single chromosome is added.
E) Two chromosomes adhere to each other.

Accepted Answer

Characteristics of structural abnormalities include part of a chromosome missing or added,rearrangement of material within chromosomes,two chromosomes that adhered to each other,and fragility of a specific site on the X chromosome.The addition of a single chromosome (trisomy),the deletion of a single chromosome (monosomy),and one or more added sets of chromosomes (polyploidy)are numerical abnormalities.

Question 16

The karyotype of a person is 47,XY,+21.This person is a
A) normal male.
B) male with Down syndrome.
C) normal female.
D) female with Turner syndrome.

Accepted Answer

This person is male because his sex chromosomes are XY.He has one extra copy of chromosome 21 (for a total of 47 instead of 46),resulting in Down syndrome.A normal male has 46 chromosomes.A normal female has 46 chromosomes and XX for the sex chromosomes.A female with Turner syndrome has 45 chromosomes; the sex chromosomes have just one X.

Question 17

A couple has been counseled for genetic anomalies.They ask the nurse,"What is karyotyping?" Which of the following is the nurse's best response?
A) "Karyotyping will reveal if the baby's lungs are mature."
B) "Karyotyping will reveal if your baby will develop normally."
C) "Karyotyping will provide information about the number and structure of the chromosomes."
D) "Karyotyping will detect any physical deformities the baby has."

Accepted Answer

Karyotyping provides genetic information,such as gender and chromosomal structure.Karyotyping is completed by photographing or using computer imaging to arrange chromosomes in pairs from largest to smallest.The karyotype can then be analyzed.Karyotyping does not determine lung maturity or if the baby is developing normally.Although karyotyping can detect genetic anomalies,not all such anomalies display obvious physical deformities.The term deformities is a nondescriptive word.Furthermore,physical anomalies may be present that are not detected by genetic studies (e.g.,cardiac malformations).

Question 18

Which question by the nurse will most likely promote sharing of sensitive information during a genetic counseling interview?
A) "How many people in your family are mentally retarded or handicapped?"
B) "What kinds of defects or diseases seem to run in the family?"
C) "Did you know that you can always have an abortion if the fetus is abnormal?"
D) "Are there any family members who have learning or developmental problems?"

Accepted Answer

The nurse should probe gently by using lay-oriented terminology rather than direct questions or statements.

Question 19

Which statement should a nurse make when telling a couple about the prenatal diagnosis of genetic disorders?
A) Diagnosis can be obtained promptly through most hospital laboratories.
B) Common disorders can quickly be diagnosed through blood tests.
C) A comprehensive evaluation will result in an accurate diagnosis.
D) Diagnosis may be slow and could be inconclusive.

Accepted Answer

Even the best efforts at diagnosis do not always yield the information needed to counsel patients.They may require many visits over several weeks.Some tests must be sent to a special laboratory,which requires a longer waiting period for results.There is no quick blood test available at this time to diagnose genetic disorders.Despite a comprehensive evaluation,a diagnosis may never be established.

Question 20

The faculty member teaches students that which of the following are examples of autosomal recessive disorders or traits? (Select all that apply.)
A) Blood group O
B) Tay-Sachs disease
C) Huntington disease
D) Neurofibromatosis
E) Hemophilia A

Accepted Answer

Autosomal recessive traits and disorders include blood group O,Tay-Sachs disease,and cystic fibrosis.Huntington disease and neurofibromatosis are examples of autosomal dominant disorders.Hemophilia A is an X-linked disorder.

Quiz 10: Hereditary and Environmental Influences on Development

In practical terms regarding genetic health care,nurses should be aware that

A 35-year-old woman has an amniocentesis performed to find out whether her baby has a chromosome defect.Which statement by this patient indicates that she understands her situation?

A nurse is creating a pedigree for a couple whose son has Tay-Sachs disease.What information from the pedigree would the nurse most likely find?

The generalist nurse working with child-bearing families understands that his or her practice related to genetics includes which of the following? (Select all that apply.)

People who have two copies of the same abnormal autosomal dominant gene will usually be

A patient at 34 weeks of gestation has reported to the OB triage unit for assessment of oligohydramnios.The nurse assigned to care for this patient is aware that prolonged oligohydramnios may result in (Select all that apply.)

A woman tells the nurse at a prenatal interview that she has quit smoking,only has a glass of wine with dinner,and has cut down on coffee to four cups a day.What response by the nurse will be most helpful in promoting lifestyle changes?

The nurse is working in an OB/GYN office and commonly obtains patient histories and performs initial assessments.Which woman is likely to be referred for genetic counseling after her first visit?

A nurse is seeing a pregnant woman who has had genetic testing on her unborn fetus and has been given the results.The nurse notes the results confirm that the husband could not be the father.What action by the nurse is best?

Both members of an expectant couple are carriers for phenylketonuria (PKU) ,an autosomal recessive disorder.In counseling them about the risk to their unborn child,the nurse should tell them that

A maternal-newborn nurse is caring for a mother who just delivered a baby born with Down syndrome.What nursing diagnosis is the most essential in caring for the mother of this infant?

How can a woman avoid exposing her fetus to teratogens?

A baby is born with blood type AB.The father is type A,and the mother is type B.The father asks why the baby has a blood type different from those of his parents.The nurse's answer should be based on the knowledge that

Which statement is true of multifactorial disorders?

The nurse knows that which of the following chromosomal abnormalities are structural in nature? (Select all that apply.)

The karyotype of a person is 47,XY,+21.This person is a

A couple has been counseled for genetic anomalies.They ask the nurse,"What is karyotyping?" Which of the following is the nurse's best response?

Which question by the nurse will most likely promote sharing of sensitive information during a genetic counseling interview?

Which statement should a nurse make when telling a couple about the prenatal diagnosis of genetic disorders?

The faculty member teaches students that which of the following are examples of autosomal recessive disorders or traits? (Select all that apply.)