Question 1

Which statement made by the nurse is evidence of therapeutic communication for a couple who is undergoing genetic counseling and very concerned about the possibility of having a child with a birth defect as a result of a strong family history on both sides of the family?

Accepted Answer

Having as much information as possible will help analyze potential health patterns. It also shows that the nurse is taking the clients' concerns seriously. Telling the clients that there is little anyone can do does not provide any comfort or hope and is therefore self-defeating. Although the clients may have limited options based on their genetic and medical history, it is important to provide support and not defer all communication to the physician. The nurse must be able to provide support and counseling to clients. It is important to have completed forms, but asking clients about them does not address their psychological concerns.

Question 2

An infant 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 that of the parents. The nurse's answer should be based on the knowledge that which is true?

Accepted Answer

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

Question 3

A 35-year-old client has an amniocentesis performed to find out whether her baby has a chromosomal defect. Which statement indicates that the client understands her situation?

Accepted Answer

The final decision about genetic testing and the future of the pregnancy lies with the client. The client will involve only those people whom she chooses. The final decision about the future of the pregnancy lies only with the client. An amniocentesis is done to detect chromosomal defects; many women have this done to prepare and educate themselves for the baby's arrival. The woman should also be assured that her care is confidential. Insurance will help cover expenses, but birth defects also take a toll on the emotional, physical, and social aspects of the parents' lives. Support groups are extremely important for parents of a baby with birth defects.

Question 4

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

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. Those mildly affected with the disorder will have only one copy of the abnormal gene. Infertility may or may not be caused by chromosomal defects. A carrier of a trait has one recessive gene.

Question 5

The parents of a child with a karyotype of 47,XY, +21 ask the nurse what this means. Which is an accurate response by the nurse?

Accepted Answer

This child 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 female would have 46 chromosome and XX for the sex chromosomes. A normal male would have 46 chromosomes. A female with Turner's syndrome would have 45 chromosomes; the sex chromosome would have just one X.

Question 6

During the course of obtaining a genetic history from a female client, you note that there is a family history of a genetic disease on the maternal side but no evidence of symptomatology in the client or the client's children, two girls. Which observation can you make related to genetic expression?

Accepted Answer

Because we have no information about the father and/or paternal side, the other stated options do not apply. If an autosomal dominant expression were present in the family history, the client would be symptomatic. It is more likely to see X-linked recessive traits than X-linked dominant traits and, again, the client and children are not symptomatic. Although an autosomal recessive expression may be present, we cannot predict that the children will be carriers. There is a 25% chance of being affected.

Question 7

A client 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. Which response by the nurse will be most helpful in promoting a lifestyle change?

Accepted Answer

Praising her for making positive changes is an effective technique for motivating a client. She still has risk factors to change for optimal outcome, and a gentle maneuver to help her see these for herself will be most likely to succeed. Alcohol and coffee consumption are still major risk factors and need to be addressed in a positive, nonjudgmental manner. The statement, "You need to do a lot better," is belittling to the client; she will be less likely to confide in the nurse. The nurse is not acknowledging the efforts that the client has already accomplished by offering pamphlets; those accomplishments need to be praised to motivate the client to continue.

Question 8

A client presents with curly hair and blue eyes. These findings are consistent with:

Accepted Answer

Curly hair is considered to be a dominant trait, whereas blue eyes are considered to be a recessive trait. Observation of characteristics is noted as phenotype. Genotype identifies the genetic makeup of traits.

Question 9

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

Accepted Answer

The nurse should probe gently using layperson-oriented terminology, such as learning problems rather than defects or diseases. Some individuals may not be aware of which diseases are genetically linked and may not answer the question accurately. "How many people in your family are mentally retarded or handicapped?" assumes that there are genetic problems that resulted in retardation in the family. Some individuals may find these terms offensive. "Did you know that you can always have an abortion if the fetus is abnormal?" is taking the decision away from the parents. They are seeking counseling to prevent problems, not to find out what to do if there is a problem.

Question 10

The nurse receives a report on an infant whose analysis indicates 47 total chromosomes, with the abnormality noted at chromosome 21. What additional assessments will the nurse include when evaluating the infant?

Accepted Answer

Trisomy 21 is associated with a number of notable physical characteristics, including wide-set eyes, flat bridge of the nose, protruding tongue, short neck, small chin, poor muscle tone, and space between the great and second toes. An infant with trisomy 21 tend to be short in stature and developmentally delayed, but two characteristics will become more noticeable as the child gets older. Cleft palate and polydactyly are more common with trisomy 13.

Question 11

Which characteristic is related to Down syndrome?

Accepted Answer

Up-slanting eyes, wide short fingers, and low-set ears are often seen in infants with Down syndrome. Bleeding tendency, edema of extremities, and abnormal genitalia are not characteristics of Down syndrome.

Question 12

A clinic nurse is planning a teaching session for childbearing-age female clients. Which should the nurse include in the teaching session with regard to avoiding exposing a fetus to teratogens?

Accepted Answer

In well-controlled studies, class A medications have no demonstrated fetal risk. Immunizations for diseases such as rubella are contraindicated during pregnancy. Use of saunas and hot tubs are not recommended because maternal hyperthermia is an important teratogen. Alcohol is an environmental substance known to be teratogenic.

Question 13

The nurse is teaching prenatal clients about avoiding substances or conditions that can harm the fetus. Which should the nurse include in the teaching session? (Select all that apply.)

Accepted Answer

The best action is for the pregnant woman to eliminate use of nontherapeutic drugs and substances such as alcohol. A woman who has diabetes should try to keep her blood glucose levels normal and stable before and during pregnancy for the best possible fetal outcomes. Nonurgent radiologic procedures may be done during the first 2 weeks after the menstrual period begins, before ovulation occurs. Exposure to temperatures of 37.8° C (100° F) or higher is not advised for the pregnant client. Folic acid supplements should be taken. All women of childbearing age should take at least 0.4 mg (400 mcg) of folic acid daily before and after conception because this has been found to reduce the incidence of neural tube defects by 50% to 70%.

Question 14

Identification of a newborn's blood indicates type AB. Based on this assessment, which statement is correct?

Accepted Answer

Type AB blood indicates that the parental contribution was types A and B, which are considered dominant genes.

Question 15

The clinic nurse is reviewing charts on prenatal clients. Which client histories should the nurse understand that a referral to a genetic counselor is warranted? (Select all that apply.)

Accepted Answer

Reasons for a referral to a genetic counselor include family history of unexplained stillbirths, family history of birth defects, and a woman who is a carrier of an X-linked disorder. Pregnant women who will be 35 years of age or older when the infant is born and men who father children after age 40 constitute reasons for referral to a genetic counselor. The client who is 30 and the father who is aged 35 would not warrant a referral to a genetic counselor.

Question 16

Which statement is true of multifactorial disorders?

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 17

The patient indicates to the clinic nurse that she is trying to become pregnant. The clinic nurse reviews the patient's chart and notes the following laboratory values: blood type O-, RPR nonreactive, rubella nonimmune, HCT 35%. Which laboratory value is most concerning to the nurse?

Accepted Answer

Rubella nonimmune indicates that the patient does not have immunity against rubella and is therefore susceptible to the infection. Exposure to rubella, or German measles, in the first trimester is associated with fetal congenital anomalies. The client needs a rubella immunization and must not become pregnant within the next 28 days. Although a HCT of 35% is low, women of childbearing age may have mild anemia associated with menstruation. A blood type of O- means that the client will require RhoGAM but is not of concern in the preconception period. A nonreactive RPR indicates that the patient has not been exposed to syphilis.

Question 18

Testing for the cause of anomalies in a stillborn infant is being done. The mother angrily asks the nurse how long these tests are going to take. The nurse should understand that the mother is:

Accepted Answer

Grief after a fetal loss may initially be expressed as anger. The mother is not placing blame; she is in the anger stage of the grieving process. The mother is not being impatient or unreasonable. The mother is expressing anger as a beginning stage of grief, not blaming herself or feeling guilty.

Question 19

A nurse is working with a client to obtain information needed for genetic counseling. Which tool will be used to obtain this information?

Accepted Answer

When obtaining information with regard to genetic counseling, it is important to obtain a family history using a genogram or pedigree as the clinical tool. The use of this diagram provides information for maternal and paternal histories and allows for the interpretation of significance based on findings of age, death, and medical history. A Braden scale is used to assess problems with skin leading to potential breakdown. CVS is a diagnostic procedure used during pregnancy to obtain genetic information about the fetus. Serum protein electrophoresis is a lab test used to determine immunoglobulin levels.

Question 20

Which point should the nurse include when telling a couple about the prenatal diagnosis of genetic disorders?

Accepted Answer

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

Quiz 5: Hereditary and Environmental Influences on Childbearing