Question 1

In practical terms regarding genetic health care,which of the following should the nurse be aware of?
A) Genetic disorders equally affect all socioeconomic backgrounds, races, and ethnic groups.
B) Genetic health care is more concerned with populations than individuals.
C) It is most important to provide emotional support to the family during genetic counselling.
D) Taking genetic histories is only done in large university hospital and tertiary-care centres.

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,although larger facilities may have better support services.

Question 2

A pregnant woman at 25 weeks' gestation tells the nurse that she dropped a pan last week and her baby jumped at the noise.Which response by the nurse is most accurate?
A) "That must have been a coincidence; babies can't respond like that."
B) "The fetus is demonstrating the aural reflex."
C) "Babies respond to sound starting at about 24 weeks of gestation."
D) "Let me know if it happens again; we need to report that to your midwife."

Accepted Answer

"Babies respond to sound starting at about 24 weeks of gestation" is an accurate statement because fetuses respond to sound by 24 weeks."That must have been a coincidence; babies can't respond like that" is inaccurate.Acoustic stimulations can evoke a fetal heart rate response.There is no such thing as an aural reflex.The statement,"Let me know if it happens again; we need to report that to your midwife" is not appropriate; it gives the impression that something is wrong.

Question 3

What is responsible for the transportation of oxygen and carbon dioxide to and from the maternal bloodstream?
A) Decidua basalis
B) Blastocyst
C) Germ layer
D) Chorionic villi

Accepted Answer

Chorionic villi are fingerlike projections that develop out of the trophoblast and extend into the blood-filled spaces of the endometrium.The villi obtain oxygen and nutrients from the maternal bloodstream and dispose of carbon dioxide and waste products into the maternal blood.The decidua basalis is the portion of the decidua (endometrium)under the blastocyst where the villi attach.The blastocyst is the embryonic development stage after the morula.Implantation occurs at this stage.The germ layer is a layer of the blastocyst.

Question 4

With regard to the estimation and interpretation of the recurrence of risks for genetic disorders,what should nurses be aware of?
A) With a dominant disorder, the likelihood of the second child also having the condition is 100%.
B) An autosomal recessive disease carries a one in eight risk of the second child also having the disorder.
C) Disorders involving maternal ingestion of drugs carry a one in four chance of being repeated in the second child.
D) The risk factor remains the same no matter how many affected children are already in the family.

Accepted Answer

Each pregnancy is an independent event.The risk factor (e.g.,one in two,one in four)remains the same for each child,no matter how many children are born to the family.In a dominant disorder the likelihood of recurrence in subsequent children is 50% (one in two).An autosomal recessive disease carries a one in four chance of recurrence.Subsequent children would be at risk only if the mother continued to take drugs; the rate of risk would be difficult to calculate.

Question 5

The nurse is assessing the knowledge of new parents with a child born with maple syrup urine disease ( MSUD ).The nurse knows that this is an autosomal recessive inherited disorder,which means which of the following?
A) Both genes of a pair must be abnormal for the disorder to be present.
B) Only one copy of the abnormal gene is required for the disorder to be present.
C) The disorder occurs in males and heterozygous females.
D) The disorder is carried on the X chromosome.

Accepted Answer

MSUD is a type of autosomal recessive inheritance disorder in which both genes of a pair must be abnormal for the disorder to be expressed.MSUD is not an X-linked dominant disorder.MSUD is not a recessive disorder.MSUD is not an autosomal dominant inheritance disorder.

Question 6

A woman who is 8 months pregnant asks the nurse,"Does my baby have any antibodies to fight infection?" What is the most appropriate response by the nurse?
A) "Your baby has all the immunoglobulins (Ig) necessary: IgG, IgM, and IgA."
B) "Your baby won't receive any antibodies until he is born and you breastfeed him."
C) "Your baby does not have any antibodies to fight infection."
D) "Your baby has IgG and IgM."

Accepted Answer

During the third trimester,it is only IgG that crosses the placenta; IgG,provides passive acquired immunity to specific bacterial toxins.The fetus produces IgM by the end of the first trimester.IgA is not produced by the baby.By the third trimester the fetus has IgG and IgM.Breastfeeding supplies the baby with IgA."Your baby does not have any antibodies to fight infection" is not an accurate statement.

Question 7

A woman asks the nurse,"What protects my baby's umbilical cord from being squashed while the baby's inside of me?" What is the nurse's best response?
A) "Your baby's umbilical cord is surrounded by connective tissue called Wharton jelly, which prevents compression of the blood vessels and ensures continued nourishment of your baby."
B) "Your baby's umbilical floats around in blood anyway."
C) "You don't need to worry about things like that."
D) "The umbilical cord is a group of blood vessels that are very well protected by the placenta."

Accepted Answer

The statement "Your baby's umbilical cord is surrounded by connective tissue called Wharton jelly,which prevents compression of the blood vessels and ensures continued nourishment of your baby" is the most appropriate response."Your baby's umbilical floats around in blood anyway" is inaccurate."You don't need to worry about things like that" is not an appropriate response.It negates the patient's need for teaching and discounts her feelings.The placenta does not protect the umbilical cord.The cord is protected by the surrounding Wharton jelly.

Question 8

Which of the following is a key finding from the Human Genome Project?
A) Approximately 20,000 to 25,000 genes make up the genome.
B) All human beings are 95.9% identical at the DNA level.
C) Human genes produce only one protein per gene; other mammals produce three proteins per gene.
D) Single gene testing will become a standardized test for all pregnant patients in the future.

Accepted Answer

Approximately 20,000 to 25,000 genes make up the human genome; this is only twice as many as make up the genomes of roundworms and flies.Human beings are 99.9% identical at the DNA level.Most human genes produce at least three proteins.Single gene testing (e.g.,alpha-fetoprotein)is already standardized for prenatal care.

Question 9

At approximately how many weeks of gestation does lecithin form on the alveolar surfaces,the eyelids open,and the fetus measures approximately 27 cm crown to rump,and weighs approximately 1100 g?
A) 20 weeks
B) 24 weeks
C) 26 weeks
D) 28 weeks

Accepted Answer

These are all milestones in human development that occur at approximately 28 weeks.

Question 10

The nurse is providing genetic counselling for an expectant couple who already have a child with trisomy 18.What should the nurse do?
A) Tell the couple they need to terminate the pregnancy within 2 to 3 weeks.
B) Explain that the fetus has a 50% chance of having the disorder.
C) Discuss options, including amniocentesis, to determine whether the fetus is affected.
D) Refer the couple to a psychologist for emotional support.

Accepted Answer

Genetic testing,including amniocentesis,would need to be performed to determine whether the fetus is affected.The couple should be given information about the likelihood of having another baby with this disorder so that they can make an informed decision.A genetic counsellor is the best source for determining genetic probability ratios.The couple eventually may need emotional support,but the status of the pregnancy must be determined first.

Question 11

What should nurses be aware of with regard to prenatal genetic testing?
A) Integrated prenatal screening can determine risk of carrying a fetus with Down syndrome.
B) Carrier screening tests are used to look for gene mutations of people already showing symptoms of a disease.
C) Predisposition testing predicts with near certainty that symptoms will appear.
D) Presymptomatic testing is used to predict the likelihood of breast cancer.

Accepted Answer

Integrated prenatal screening is used to identify risk for the neural tube defect and the specific chromosome abnormality involved in Down syndrome.Carriers of some diseases such as sickle cell disease do not display symptoms.Predisposition testing determines susceptibility such as for breast cancer; presymptomatic testing indicates that,if the gene is present,symptoms are certain to appear.

Question 12

A couple has been counselled for genetic anomalies.They ask you,"What is karyotyping?" What is the nurse's best response about karyotyping?
A) "It will reveal if the baby's lungs are mature."
B) "It will predict if your baby will develop normally."
C) "It will identify your baby's gender and information about chromosomes."
D) "It will detect any physical deformities the baby has."

Accepted Answer

Karyotyping provides genetic information such as gender and chromosome structure.The lecithin-to-sphingomyelin (L/S)ratio,not karyotyping,reveals lung maturity.Although karyotyping can detect genetic anomalies,the range of normal is nondescriptive.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 13

A father and mother are carriers of phenylketonuria (PKU).Their 2-year-old daughter has PKU.The couple tells the nurse that they are planning to have a second baby.Because their daughter has PKU,they are sure that their next baby won't be affected.What response by the nurse is most accurate?
A) "Good planning; you need to take advantage of the odds in your favour."
B) "I think you'd better check with your doctor first."
C) "You are both carriers, so each baby has a 25% chance of being affected."
D) "The ultrasound indicates a boy, and boys are not affected by PKU."

Accepted Answer

The chance is one in four that each child produced by this couple will be affected by PKU disorder.This couple still has an increased likelihood of having a child with PKU.Having one child already with PKU does not guarantee that they will not have another.These parents need to discuss their options with their physician.However,an opportune time has presented itself for the couple to receive correct teaching about inherited genetic risks.No correlation exists between gender and inheritance of the disorder,because PKU is an autosomal recessive disorder.

Question 14

The nurse caring for the labouring woman should know that meconium is produced by which of the following?
A) Fetal intestines
B) Fetal kidneys
C) Amniotic fluid
D) The placenta

Accepted Answer

As the fetus nears term,fetal waste products accumulate in the intestines as dark green-to-black,tarry meconium.

Question 15

What should the nurse be aware of with regard to chromosome abnormalities?
A) They occur in approximately 10% of newborns.
B) Abnormalities of number are the leading cause of pregnancy loss.
C) Down syndrome is a result of an abnormal chromosome structure.
D) Unbalanced translocation results in a mild abnormality that the child will outgrow.

Accepted Answer

Aneuploidy is an abnormality of number that also is the leading genetic cause of mental retardation.Chromosome abnormalities occur in fewer than 1% of newborns.Down syndrome is the most common form of trisomal abnormality,an abnormality of chromosome number (47 chromosomes).Unbalanced trAnswerlocation is an abnormality of chromosome structure that often has serious clinical effects.

Question 16

During a presentation to obstetric nurses interested in genetics,what does the genetic nurse identify as the primary factor to consider with genetic testing?
A) Anxiety and altered family relationships
B) Accessibility related to the availability of genetic testing
C) High false-positive rates associated with genetic testing
D) Ethnic and socioeconomic disparity associated with genetic testing

Accepted Answer

Decisions about genetic testing are shaped by accessibility of available genetic testing.The geographical location where the woman receives prenatal care and social norms are the primary factors to consider.Smaller rural communities in Canada do not offer the array of choices available in larger urban centres.Anxiety and altered family relationships,high false-positive rates,and ethnic and socioeconomic disparity are factors that may be difficulties associated with genetic testing,but they are not risks associated with testing.

Question 17

The nurse must be cognizant that the term for an individual's genetic makeup is known as which of the following?
A) Genotype
B) Phenotype
C) Karyotype
D) Chromotype

Accepted Answer

The genotype comprises all the genes the individual can pass on to a future generation.The phenotype is the observable expression of an individual's genotype.The karyotype is a pictorial analysis of the number,form,and size of an individual's chromosomes.Genotype refers to an individual's genetic makeup.

Question 18

You are a maternal-newborn nurse caring for a mother who just delivered a baby born with Down syndrome.What nursing diagnosis would be 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.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 an applicable nursing diagnosis.

Question 19

A man's wife is pregnant for the third time.One child was born with cystic fibrosis and the other child is healthy.The man wonders what the chance is that this child will have cystic fibrosis.This type of testing is known as which of the following?
A) Occurrence risk
B) Recurrence risk
C) Predictive testing
D) Predisposition testing

Accepted Answer

The couple already has a child with a genetic disease; therefore,they will be given a recurrence risk test.If a couple has not yet had children but are known to be at risk for having children with a genetic disease,they are given an occurrence risk test.This couple already has a child with a genetic disorder.Predictive testing is used to clarify the genetic status of an asymptomatic family member.Predisposition testing differs from presymptomatic testing in that a positive result does not indicate 100% risk of a condition developing.

Question 20

A woman's cousin gave birth to an infant with a congenital heart anomaly.The woman asks the nurse when such anomalies occur during development.Which response by the nurse is most accurate?
A) "We don't really know when such defects occur."
B) "It depends on what caused the defect."
C) "They occur between the third and fifth weeks of development."
D) "They usually occur in the first 2 weeks of development."

Accepted Answer

The cardiovascular system is the first organ system to function in the developing human.Blood vessel and blood formation begins in the third week,and the heart is developmentally complete in the fifth week."We don't really know when such defects occur" is an inaccurate statement.Regardless of the cause,the heart is vulnerable during its period of development,the third to fifth weeks."They usually occur in the first 2 weeks of development" is an inaccurate statement.

Quiz 8: Preconception, genetics, conception, and Fetal Development

In practical terms regarding genetic health care,which of the following should the nurse be aware of?

A pregnant woman at 25 weeks' gestation tells the nurse that she dropped a pan last week and her baby jumped at the noise.Which response by the nurse is most accurate?

What is responsible for the transportation of oxygen and carbon dioxide to and from the maternal bloodstream?

With regard to the estimation and interpretation of the recurrence of risks for genetic disorders,what should nurses be aware of?

The nurse is assessing the knowledge of new parents with a child born with maple syrup urine disease ( MSUD ) .The nurse knows that this is an autosomal recessive inherited disorder,which means which of the following?

A woman who is 8 months pregnant asks the nurse,"Does my baby have any antibodies to fight infection?" What is the most appropriate response by the nurse?

A woman asks the nurse,"What protects my baby's umbilical cord from being squashed while the baby's inside of me?" What is the nurse's best response?

Which of the following is a key finding from the Human Genome Project?

At approximately how many weeks of gestation does lecithin form on the alveolar surfaces,the eyelids open,and the fetus measures approximately 27 cm crown to rump,and weighs approximately 1100 g?

The nurse is providing genetic counselling for an expectant couple who already have a child with trisomy 18.What should the nurse do?

What should nurses be aware of with regard to prenatal genetic testing?

A couple has been counselled for genetic anomalies.They ask you,"What is karyotyping?" What is the nurse's best response about karyotyping?

A father and mother are carriers of phenylketonuria (PKU) .Their 2-year-old daughter has PKU.The couple tells the nurse that they are planning to have a second baby.Because their daughter has PKU,they are sure that their next baby won't be affected.What response by the nurse is most accurate?

The nurse caring for the labouring woman should know that meconium is produced by which of the following?

What should the nurse be aware of with regard to chromosome abnormalities?

During a presentation to obstetric nurses interested in genetics,what does the genetic nurse identify as the primary factor to consider with genetic testing?

The nurse must be cognizant that the term for an individual's genetic makeup is known as which of the following?

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

A man's wife is pregnant for the third time.One child was born with cystic fibrosis and the other child is healthy.The man wonders what the chance is that this child will have cystic fibrosis.This type of testing is known as which of the following?

A woman's cousin gave birth to an infant with a congenital heart anomaly.The woman asks the nurse when such anomalies occur during development.Which response by the nurse is most accurate?