Question 1

A nurse is reviewing the charts of children in the pediatric units to determine which parents would benefit from referral to the genetics clinic. The nurse recognizes that the parents of children with genetic and chromosomal disorders would benefit most from this referral. Therefore, the nurse refers the parents of the: Standard Text: Select all that apply.

Accepted Answer

Cystic fibrosis and Duchenne muscular dystrophy are genetic disorders and therefore the parents of children with these conditions would benefit most from referral to the genetics clinic. The other conditions listed may have a genetic component, but are not necessarily genetic disorders and may not warrant referral to the genetics clinic.

Question 2

The nurse is discussing autosomal recessive inheritance with a patient. The nurse will include which statements in the discussion? Standard Text: Select all that apply.

Accepted Answer

Autosomal recessive inheritance is characterized by the disorder appearing to skip generations, affecting boys and girls in equal numbers, and requiring both parents to be carriers for the disorder to be present in their child. The disorder does not pass from mother to son or from father to daughter, which is a characteristic of X-linked inheritance. There is no evidence to suggest that daughters affected by autosomal recessive disorders are more severely involved than sons.

Question 3

All five of the children in a family were born with a genetic disorder. The disorder is inherited as autosomal dominant. If this is not a statistical rarity, the likelihood would be that:

Accepted Answer

Autosomal dominant disorders are caused by a single copy of the affected gene. If all five children were born with the disorder, it is likely that one parent has both chromosomes with the affected gene, which would result in a 100% chance of passing on the disorder to their offspring. Therefore, Choice A is the best answer.

Question 4

Which parent statement shows understanding of the cause of the child's genetic condition in such a way that the nurse can document that no further teaching about the cause is needed?

Accepted Answer

This statement acknowledges that the genetic condition is not anyone's fault and that it is solely the result of a genetic mutation. It shows a clear understanding of the cause and suggests that no further teaching about the cause is needed. The other options either attribute blame to external factors or imply a lack of understanding about the cause of the condition.

Question 5

The nurse is discussing genetic referral with the parents of children being seen in the pediatric clinic. The child who would benefit from a genetic referral is the child whose family has a history of:

Accepted Answer

A history of cleft lip and/or cleft palate, diaphragmatic hernia, or cataract are all indicative of potential genetic disorders and would warrant a genetic referral. The other options are not necessarily indicative of genetic disorders.

Question 6

During a sports physical, a client is found to have myopia, long digits, tall stature, an arm span greater than his height, scoliosis, and a hollow chest. The nurse should suspect:

Accepted Answer

The combination of myopia, long digits, tall stature, arm span greater than height, scoliosis, and a hollow chest are classic features of Marfan's syndrome, a genetic disorder that affects connective tissue. Phenylketonuria is a metabolic disorder, Turner's syndrome is a chromosomal disorder affecting females, and Huntington's chorea is a neurodegenerative disorder with symptoms including uncontrolled movements and cognitive impairment, none of which are consistent with the client's presentation.

Question 7

A couple is evaluated in the genetics clinic, and the male is found to be a carrier of an X-linked dominant disorder. The couple asks the nurse what this means in regard to their future children. The nurse's response will include the information that:

Accepted Answer

In X-linked dominant disorders, if the father is the carrier (affected), all of his daughters will inherit the affected X chromosome because they inherit their father's only X chromosome. Sons, however, will not be affected by the disorder from their father since they inherit their father's Y chromosome, not his X chromosome.

Question 8

A child has been diagnosed as having a genetic disorder based on a mosaic trisomy. The nurse recognizes that the mother understands the significance of this diagnosis when she states:

Accepted Answer

A mosaic trisomy means that not all cells in the body have the extra chromosome. This allows for the possibility of having some normal cells, which can lessen the severity of the disorder.

B, C, and D are incorrect. Mosaic trisomies are not necessarily inherited and can occur randomly during cell division. The chance of passing on the disorder to offspring would depend on the specific genetic factors involved. The sex of the parent is not a determining factor. The age of the mother may be a risk factor for chromosomal abnormalities, but it is not the only cause.

Question 9

Parents of a baby who died shortly after birth from a genetic disorder have been referred to a genetics clinic. The physician has explained to the parents why the referral was made. Which statement by the parents indicates that they understand the reason for the referral?

Accepted Answer

Option D shows that the parents understand that the genetics clinic will give them information that will enable them to decide about trying to have another baby. This reflects the reason for the referral - to address the genetic disorder that caused the death of their previous baby. Options A and B are not relevant to the referral, while option C may be an outcome but does not reflect the reason for referral.

Question 10

Following carrier testing, it is determined that both the husband and wife have sickle-cell trait. Which statement by the wife indicates correct understanding of autosomal recessive inheritance?

Accepted Answer

Autosomal recessive inheritance means that both parents must carry the recessive gene in order for a child to inherit the disease. Therefore, since both the husband and wife carry the trait, their child has a 25% chance of inheriting sickle-cell disease. Prenatal testing, such as amniocentesis, can determine whether the baby has inherited the disease.

Question 11

The nurse teaches children with genetic disorders ways to maintain health and avoid complications. The nurse will teach children with which genetic disorder to follow medical guidelines and maintain penicillin prophylaxis?

Accepted Answer

Penicillin prophylaxis is necessary for individuals with sickle-cell disease to prevent infections, particularly pneumococcal infections. The other genetic disorders listed do not typically require penicillin prophylaxis.

Question 12

Advances in genetic screening provide information with high levels of certainty about genetic disorders a fetus might have. Which is an ethical implication of these advances?

Accepted Answer

Nurses must always be aware of their own personal feelings, biases, and values when providing care to patients. This is especially important when dealing with ethical dilemmas and complex issues such as genetic screening. The nurse must be prepared to offer emotional support and guidance to the parents, while also recognizing the parents' autonomy to make their own decisions based on the information available to them. However, the nurse should not be expected to participate in actions that contradict their personal ethics, and the parents do not necessarily need to be aware of the nurse's personal feelings about the information available.

Question 13

The nurse in the genetics clinic is working with families undergoing testing for genetic disease. If the initial testing is positive, more extensive testing is required to confirm:

Accepted Answer

Newborn screening is the process where infants are tested shortly after birth for conditions that are treatable, but not clinically evident in the newborn period. If initial screening results are positive, more extensive testing is often required to confirm the diagnosis. This is because newborn screening aims to identify conditions early enough to begin treatment before symptoms or permanent damage occur, and the initial tests are designed to be highly sensitive to minimize missed cases, which can lead to false positives that need confirmatory testing.

Question 14

As medical care has evolved, it has become more common for children with genetic disorders to live longer. What impact does this have on health care delivery for the nurse providing care for these children?

Accepted Answer

As more children with genetic disorders are living longer, nurses will need to be familiar with a larger number of genetic disorders and the specific care that each disorder requires. This will require ongoing education and training for nurses to provide the best care for these patients. Health care delivery will become more complex, but this is a necessary component in providing quality care for these children. The other choices are not accurate, as nurses should always spend time providing bedside care and health care delivery will not necessarily become more expensive (although it may be costly).

Question 15

A couple has been referred for genetic counseling. Prior to making the appointment, the couple should understand that:

Accepted Answer

Genetic counseling and testing is voluntary, meaning that the couple has the right to decide whether or not to seek the information. They should also be aware that they will have the option to choose the type of testing they wish to undergo, and that the cost of genetic counseling may or may not be covered by their health insurance. It is also important to note that genetic counseling does not involve the requirement of sterilization for either partner, and that the information gained from genetic counseling will primarily benefit the couple themselves.

Question 16

During genetic testing, one parent is found to have a chromosomal abnormality without any physical or mental disability; however, the offspring has inherited physical and/or mental disability. During patient education, the nurse explains that the type of individual who can have a chromosomal abnormality without any disability but can cause his offspring to receive chromosomal alterations and disability is the parent with:

Accepted Answer

Balanced translocations involve rearrangement of chromosomes without loss or gain of genetic material, so the carrier parent may be unaffected, but offspring can inherit unbalanced translocations leading to disabilities.

Question 17

When a parent reports multiple male miscarriages, the nurse should confer with the health care provider about a possible genetics referral for which type of conditions?

Accepted Answer

Multiple male miscarriages suggest X-linked recessive conditions, since males only have one X chromosome and any genetic defect on that chromosome would result in a specific condition. A genetics referral may be necessary for further evaluation and diagnosis.

Quiz 4: Genetic and Hereditary Influences