Deck 3: Hereditary Influences on Health Promotion of the Child and Family

Question 1

A couple asks the nurse about the optimal time for genetic counseling. They do not plan to have children for several years. When should the nurse recommend they begin genetic counseling?

A) As soon as the woman suspects that she may be pregnant
B) Whenever they are ready to start their family
C) Now, if one of them has a family history of congenital heart disease
D) Now, if they are members of a population at risk for certain diseases

Answer 1

Now, if they are members of a population at risk for certain diseases

Question 2

A couple has given birth to their first child, a boy with a recessive disorder. The genetic counselor tells them that the risk of recurrence is one in four. Which statement is a correct interpretation of this information?

A) The risk factor remains the same for each pregnancy.
B) The risk factor will change when they have a second child.
C) Because the parents have one affected child, the next three children should be unaffected.
D) Because the parents have one affected child, the next child is four times more likely to be affected.

Answer 2

The risk factor remains the same for each pregnancy.

Question 3

A couple expecting their first child has a positive family history for several congenital defects and disorders. The couple tells the nurse that they are opposed to abortion for religious reasons. Which should the nurse consider when counseling the couple?

A) The couple should be encouraged to have recommended diagnostic testing.
B) The couple needs counseling regarding advantages and disadvantages of pregnancy termination.
C) Diagnostic testing is required by law in this situation.
D) Diagnostic testing is of limited value if termination of pregnancy is not an option.

Answer 3

The couple should be encouraged to have recommended diagnostic testing.

Question 4

Which is a birth defect or disorder that occurs as a new case in a family and is not inherited?

A) Sporadic
B) Polygenic
C) Monosomy
D) Association

Question 5

Which genetic term refers to the transfer of all or part of a chromosome to a different chromosome after chromosome breakage?

A) Trisomy
B) Monosomy
C) Translocation
D) Nondisjunction

Question 6

A woman, age 43 years, is 6 weeks pregnant. It is important that she be informed of which?

A) The need for a therapeutic abortion
B) Increased risk for Down syndrome
C) Increased risk for Turner syndrome
D) The need for an immediate amniocentesis

Question 7

Parents ask the nurse if there was something that should have been done during the pregnancy to prevent their child's cleft lip. Which statement should the nurse give as a response?

A) "This is a type of deformation and can sometimes be prevented."
B) "Studies show that taking folic acid during pregnancy can prevent this defect."
C) "This is a genetic disorder and has a 25% chance of happening with each pregnancy."
D) "The malformation occurs at approximately 5 weeks of gestation; there is no known way to prevent this."

Question 8

The nurse is reviewing a client's prenatal history. Which prescribed medication does the nurse understand is not considered a teratogen and prescribed during pregnancy?

A) Phenytoin (Dilantin)
B) Warfarin (Coumadin)
C) Isotretinoin (Accutane)
D) Heparin sodium (Heparin)

Question 9

Which is characteristic of X-linked recessive inheritance?

A) There are no carriers.
B) Affected individuals are principally males.
C) Affected individuals are principally females.
D) Affected individuals will always have affected parents.

Question 10

Which is a sex chromosome abnormality that is caused by the presence of one or more additional X chromosomes in a male?

A) Turner
B) Triple X
C) Klinefelter
D) Trisomy 13

Question 11

Turner syndrome is suspected in an adolescent girl with short stature. What causes this?

A) Absence of one of the X chromosomes
B) Presence of an incomplete Y chromosome
C) Precocious puberty in an otherwise healthy child
D) Excess production of both androgens and estrogens

Question 12

A father with an X-linked recessive disorder asks the nurse what the probability is that his sons will have the disorder. Which response should the nurse make?

A) "Male children will be carriers."
B) "All male children will be affected."
C) "None of the sons will have the disorder."
D) "It cannot be determined without more data."

Question 13

The nurse is teaching parents of a child with cri du chat syndrome about this disorder. The nurse understands parents understand the teaching if they make which statement?

A) "This disorder is very common."
B) "This is an autosomal recessive disorder."
C) "The crying pattern is abnormal and catlike."
D) "The child will always have a moon-shaped face."

Question 14

The nurse is assessing a neonate who was born 1 hour ago to healthy white parents in their early forties. Which finding should be most suggestive of Down syndrome?

A) Hypertonia
B) Low-set ears
C) Micrognathia
D) Long, thin fingers and toes

Question 15

Which genetic term refers to a person who possesses one copy of an affected gene and one copy of an unaffected gene and is clinically unaffected?

A) Allele
B) Carrier
C) Pedigree
D) Multifactorial

Question 16

Parents ask the nurse about the characteristics of autosomal recessive inheritance. Which is characteristic of autosomal recessive inheritance?

A) Affected individuals have unaffected parents.
B) Affected individuals have one affected parent.
C) Affected parents have a 50% chance of having an affected child.
D) Affected parents will have unaffected children.

Question 17

Chromosome analysis of the fetus is usually accomplished through the testing of which?

A) Fetal serum
B) Maternal urine
C) Amniotic fluid
D) Maternal serum

Question 18

The inheritance of which is X-linked recessive?

A) Hemophilia A
B) Marfan syndrome
C) Neurofibromatosis
D) Fragile X syndrome

Question 19

Which abnormality is a common sex chromosome defect?

A) Down syndrome
B) Turner syndrome
C) Marfan syndrome
D) Hemophilia

Question 20

Parents ask the nurse about the characteristics of autosomal dominant inheritance. Which statement is characteristic of autosomal dominant inheritance?

A) Females are affected with greater frequency than males.
B) Unaffected children of affected individuals will have affected children.
C) Each child of a heterozygous affected parent has a 50% chance of being affected.
D) Any child of two unaffected heterozygous parents has a 25% chance of being affected.

Question 21

A newborn has been diagnosed with congenital adrenal hyperplasia. Which assessment finding should the nurse expect?

A) Ambiguous genitalia
B) Prenatal growth retardation
C) An abnormally large tongue
D) Legs and arms significantly shorter than torso

Question 22

MATCHING
Match the key genetic terms to their definitions.

Study of chromosomes, with special focus on chromosome abnormalities

A)Concordant
B)Congenital
C)Cytogenetics
D)Genome
E)Teratogen

Question 23

A child has been found to have a deficiency in 3-hydroxy-3-methylglutaryl coenzyme A (HMG-CoA) reductase. Which condition is this child at risk for?

A) Increased uric acid
B) Hypercholesterolemia
C) Increased phenylketones
D) Altered oxygen transport

Question 24

Which are signs and symptoms the nurse should assess in the newborn that can indicate an inborn error of metabolism? (Select all that apply.)

A) Jaundice
B) Strabismus
C) Poor feeding
D) Acrocyanosis
E) Metabolic acidosis

Question 25

A child with Prader-Willi syndrome has been hospitalized. Which assessment findings does the nurse expect with this syndrome?

A) Nonverbal
B) Insatiable hunger
C) Abnormal, puppetlike gait
D) Paroxysms of inappropriate laughter

Question 26

The nurse is teaching student nurses about newborn screening. Which statement made by the student indicates understanding of the teaching?

A) "The newborn screening is not mandatory but voluntary."
B) "It is acceptable to 'layer' the blood on the Guthrie paper."
C) "The initial specimen should be collected as close to discharge as possible."
D) "It is best to collect the specimen before the newborn takes the first feeding."

Question 27

MATCHING
Match the key genetic terms to their definitions.

Complete genetic information of an organism

A)Concordant
B)Congenital
C)Cytogenetics
D)Genome
E)Teratogen

Question 28

MATCHING
Match the key genetic terms to their definitions.

A condition in which two individuals have the same genetic trait

A)Concordant
B)Congenital
C)Cytogenetics
D)Genome
E)Teratogen

Question 29

Which ethnic group is at risk for Tay-Sachs disease?

A) Black African
B) Mediterranean
C) Ashkenazi Jewish
D) Southern and Southeast Asian

Question 30

Which can be directly attributed to a single-gene disorder? (Select all that apply.)

A) Cleft lip
B) Cystic fibrosis
C) Turner syndrome
D) Klinefelter syndrome
E) Neurofibromatosis

Question 31

Phenylketonuria is a genetic disease that results in the body's inability to correctly metabolize which?

A) Glucose
B) Thyroxine
C) Phenylalanine
D) Phenylketones

Question 32

The nurse understands that which occurring soon after birth can indicate cystic fibrosis?

A) Murmur
B) Hypoglycemia
C) Meconium ileus
D) Muscle weakness

Question 33

A hospitalized school-age child with phenylketonuria (PKU) is choosing foods from the hospital's menu. Which food choice should the nurse discourage the child from choosing?

A) Banana
B) Milkshake
C) Fruit juice
D) Corn on the cob

Question 34

Early diagnosis of congenital hypothyroidism (CH) and phenylketonuria (PKU) is essential to prevent which?

A) Obesity
B) Diabetes
C) Cognitive impairment
D) Respiratory distress

Question 35

The nurse is reviewing the characteristics of autosomal recessive inheritance. Which are true about these characteristics? (Select all that apply.)

A) Most affected persons are males.
B) Males and females are equally affected.
C) All daughters of an affected male are carriers.
D) Carrier parents have a 25% chance of producing an affected child.
E) Carrier parents have a 50% chance of producing a carrier child in each pregnancy.

Question 36

The nurse is interviewing a prenatal client about specific risk factors that are indications for prenatal testing. Which specific risk factors should the nurse note? (Select all that apply.)

A) Previous twins
B) Inherited disorder
C) Previous preterm birth
D) Cytomegalovirus infection
E) Previous stillbirth or neonatal death

Question 37

The nurse is teaching nursing students about assessment clues to genetic disorders in the newborn. Which should the nurse include in the teaching session? (Select all that apply.)

A) Low-set ears
B) Mongolian spots
C) Epicanthal folds
D) Cephalohematoma
E) Forehead prominence

Question 38

A breastfed infant has just been diagnosed with galactosemia. The therapeutic management of this includes which?

A) Stop breastfeeding the infant.
B) Add amino acids to breast milk.
C) Substitute a lactose-containing formula for breast milk.
D) Give the appropriate enzyme along with breast milk.

Question 39

The nurse is reviewing the characteristics of autosomal dominant inheritance. Which are true about these characteristics? (Select all that apply.)

A) A carrier state exists.
B) The phenotype appears in consecutive generations.
C) Males and females are equally likely to be affected.
D) Parents who have affected children are usually asymptomatic.
E) Children of an affected parent have a 50% chance of being affected.

Question 40

Parents of a child with hemophilia A ask the nurse, "What is the deficiency with this disorder?" Which correct response should the nurse make?

A) "Hemophilia A has a deficiency in red blood cells."
B) "Hemophilia A has a deficiency in platelets."
C) "Hemophilia A has a deficiency in factor IX."
D) "Hemophilia A has a deficiency in factor VIII."

Question 41

MATCHING
Match the key genetic terms to their definitions.

An environmental agent capable of producing a birth defect

A)Concordant
B)Congenital
C)Cytogenetics
D)Genome
E)Teratogen

Question 42

MATCHING
Match the key genetic terms to their definitions.

Present at birth

A)Concordant
B)Congenital
C)Cytogenetics
D)Genome
E)Teratogen