SAS 2 ’

NUR 145 Care of Mother and Child At-Risk or with Problems (Acute and Chronic)-Lecture
BS NURSING / SECOND YEAR
Session # 2

LESSON TITLE: GENETICS AND GENETICAL Materials: Notebook, pens, paper. COUNSELLING

LEARNING OUTCOMES:
At the end of the lesson, the nursing student can: References
Pilliteri, Adele (2010) Maternal and Child Health
1. Differentiate between gene replacement therapy and Nursing, 7th Edition. USA: Lippincott Williams and gene
editing. Wilkins
2. Acquire knowledge on different types of disease
inheritance. Perry, Shannon, Hockenberry, Marilyn J.,
3. Identify the different gene disorders that can be Lowdermilk Deitra Leonard and Wilson, David passed to the
patient’s offspring. (2015) Maternal and Child Nursing Care,6th
Edition. USA: Elsevier

Hockenberry, Marilyn and Wilson, David (2013)

Wong’s Essential of Pediatric Nursing,9th Edition.
USA: Elsevier

LESSON PREVIEW/REVIEW (5 minutes)

To the students: ask the students to differentiate SDG to MDG and what are the goals that pertains to Maternal and Child
Health and different statistical methods that could be use in MCN.

MAIN LESSON (50 minutes)

The instructor should discuss the following topics. Instruct the students to take down notes and read their book about this
lesson. (Please see Chapter 8: The Nursing Role in Genetic Assessment and Counseling page 155.)
Gene Replacement Therapy and Gene Editing
Gene Replacement Therapy- is an experimental technique that uses genes to treat or prevent disease.
Gene Editing- DNA is inserted, deleted, modified or replaced in the genome of a living organism targets the insertions to
site specific locations.

Genetic Disorders
- Inherited or genetic disorders are disorders that can be passed from one generation to the next because they
result from some disorder in the gene or chromosome structure.
- may occur at the moment an ovum and a sperm fuse or even earlier, in the meiotic division phase of the gametes
- 50% of 1st trimester spontaneous miscarriages Genetics -is the study of the way such disorders occur.
Cytogenetics- is the study of chromosomes by light microscopy and the method by which chromosomal aberrations are
identified.

Nature of Inheritance
Genes- are the basic units of heredity that determine both physical and cognitive characteristics of people.
Are composed of segments of DNA, which are woven into strands in the nucleus of all body cells to form chromosome.

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Alleles-are the two like genes on autosomes.
Phenotype-refers to a person’s outward appearance or the expression of genes.
Genotype-refers to a person’s actual gene composition.
Genome-is the complete set of genes present (about 50,000 to 100,000).
-the collection of genetic information.
Gene-basic unit of genetic information. Genes determine the inherited characters.
Chromosomes-storage units of genes.
DNA-is a nucleic acid that contains the genetic instructions specifying the biological development of all cellular forms of
life.

Mendelian Inheritance
Gregor Mendel-described the principle of generic inheritance.
When dominant gene is paired with nondominant (recessive) ones, the dominant genes are always expressed in
preference to the recessive genes.

Ex: a gene for brown eyes is dominant over one for blue eyes.
2 healthy genes-HOMOZYGOUS
2 unhealthy genes-HETEROZYGOUS
Medical Genetics Dominant vs. Recessive
When studying rare disorders, general patterns of inheritance
are observed: Dominant- allele is expressed even if it is paired
1. Autosomal recessive with a recessive allele.
2. Autosomal dominant Recessive- allele is only visible when paired with
3. X-linked recessive another recessive allele.
4. X-linked dominant

How Does it Work?

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Inheritance of Disease
1. Autosomal Dominant- either a person has 2
unhealthy genes (HOMOZYGOUS DOMINANT)
-Affected males and females appear in each
generation of the pedigree.
-Affected mothers and fathers transmit the phenotype
to both sons and daughters.

e.g.DD or is heterozygous, with the gene causing the disease

stronger than the corresponding healthy recessive gene for the
same trait e.g. Dd

Autosomal Dominant Disorders

1. Huntington’s Disease- a fatal genetic disorder that causes the progressive breakdown of nerve cells in
the brain. It deteriorates a person's physical and mental abilities usually during their prime working years
and has no cure.
2. Marfan Syndrome (Connective Tissue Disorder)- an inherited disorder that affects connective tissue —
the fibers that support and anchor your organs and other structures in your body.
3. Breast and Ovarian Cancer
4. Osteogenesis Imperfecta- also known as brittle bone disease, is a group of genetic disorders that mainly
affect the bones. It results in bones that break easily. The severity may be mild to severe.

2. Autosomal Recessive-the disease appears in male

and female children of unaffected parents. -the
disease does not occur unless 2 genes for the
disease are present (homozygous recessive pattern)

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Autosomal Recessive Disorders
1. Cystic Fibrosis- an inherited disorder that causes severe damage to the lungs, digestive system and other
organs in the body
2. Albinism- a congenital disorder characterized in humans by the complete or partial absence of pigment in the
skin, hair and eyes.
3. Adrenogenital Syndrome/Congenital Hyperplasia- a group of inherited disorders that are characterized by
enlargement of the adrenal glands resulting primarily from excessive secretion of androgenic hormones by the
adrenal cortex.
4. Tay-Sach’s Disease- a rare inherited disorder that progressively destroys nerve cells (neurons) in the brain
and spinal cord.
5. Galactosemia- refers to a group of inherited disorders that impair the body's ability to process and produce
energy from a sugar called galactose. When people with galactosemia ingest foods or liquids containing
galactose, undigested sugars build up in the blood.
6. Phenylketonuria- an inborn error of metabolism that results in decreased metabolism of the amino acid
phenylalanine that can lead to intellectual disability, seizures, behavioral problems, and mental disorders. It
may also result in a musty smell and lighter skin.
7. Rh Incompatibility- condition that occurs during pregnancy if a woman has Rh-negative blood and her baby
has Rh-positive blood.

3. X-Linked Dominant- genes are located on and transmitted only by the female sex chromosome (X
chromosome) - if the affected gene is dominant, only 1 X chromosome with the trait need be present for
symptoms of the disorder to be manifested.
X-Linked Dominant Disorder
1. Alport’s Syndrome- progressive kidney failure disorder.

4. X-Linked Recessive - Usually, only males will have the disorder

-history of girls dying at birth for unknown reasons (females with affected gene on both X chromosomes)
X-Linked Recessive Disorders
1. Hemophilia A- a genetic deficiency in clotting factor VIII, which causes increased bleeding.
2. Christmas disease/Hemophilia B/Factor IX hemophilia- a rare genetic disorder in which your blood
doesn't clot properly.
3. Color blindness- often happens when someone cannot distinguish between certain colors.
4. Duchenne muscular dystrophy- a progressive form of muscular dystrophy that occurs primarily in males
5. Fragile X syndrome (cognitive challenge syndrome)- a genetic condition that causes a range of
developmental problems including learning disabilities and cognitive impairment.

Multifactorial (Polygenic) Inheritance- from multiple gene combinations + environmental factors. e.g.
Heart Disease, Diabetes Mellitus, Cleft Palate, Neural Tube Defects, Pyloric Stenosis

Chromosomal Abnormalities (Cytogenic Disorders)- abnormalities at fault in the number/structure of chromosome

which results in missing or distorted genes.
-when chromosomes are photographed and displayed, the resulting arrangement is termed a KARYOTYPE
-fluorescent in situ hybridization (FISH)-the number of chromosomes and specific parts of chromosomes can be id by
karyotyping or by this process.

Nondisjunction Abnormalities- resulting to 1 sperm/ovum having 24 & the other 22

-if this fuses with a normal sperm/ovum, the zygote will have 47 or 45 chromosomes

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-the malsegregation of chromosomes due to the failure of chromosomes on the metaphase plate to divide to each
daughter nuclei
e.g. Down’s syndrome (Trisomy 21) increases with maternal & paternal age Turner
& Klinefelter syndrome

Deletion Abnormalities- chromosome disorder in which part of the chromosome breaks during cell division, causing the
affected person to have the normal # of chromosomes +/- an extra portion of a chromosome. e.g. 45.75 or 47.5
Cri-Du-Chat Syndrome (46XY5Q)/Cat Cry Syndrome- 1 portion of chromosome 5 is missing.

Translocation Abnormalities- a child gains an additional chromosome through another route. e.g.
Trisomy 21(Down Syndrome)

Mosaicism- when the nondisjunction disorder occurs after fertilization of the ovum, as the structure begins mitotic
cell division.
-different cells in the body will have different chromosome counts.

Isochromosomes- chromosomes accidentally divides not by a vertical separation but by a horizontal one, a new
chromosome with mismatched long and short arms can result.

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-much the same effect as a translocation. e.g.
Turner’s Syndrome

CHECK FOR UNDERSTANDING (30 minutes)

The instructor will prepare 10-15 questions that can enhance critical thinking skills. Students will work by themselves to
answer these questions and write the rationale for each question.

Multiple Choice

(For 1-10 items, please refer to the questions in the Rationalization Activity)

RATIONALIZATION ACTIVITY (DURING THE FACE TO FACE INTERACTION WITH THE STUDENTS)
The instructor will now rationalize the answers to the students and will encourage them to ask questions and to discuss
among their classmates.

1. Amy Alvarez, 26 years of age, is pregnant with her first child and is experiencing significant stress
following her recent diagnostic findings. The nurse would be providing high-quality care if completing
which of the following?
a. Provided Amy with hope and downplaying the potential for negative outcomes
b. Referred Amy to websites and journals in the field of genetics
c. Described the most serious consequences of genetic disorders
d. Described genetics in a way that directly meets her learning needs

2. If it is predicted during a pregnancy that a couple will have a child with Down syndrome, the couple is
asked to make a choice whether they want to continue the pregnancy or terminate it at that point. To
discover how couples feel about having a child with Down syndrome, researchers surveyed 2,044 parents
on the mailing lists of six nonprofit Down syndrome organizations. The majority of parents reported they
are happy with their decision to have their child and find their sons and daughters great sources of love
and pride. Ninety-nine percent reported they love their affected son or daughter, 97% reported being
proud of them, 79% felt their outlook on life was more positive because of them, only 5% felt embarrassed
by them, and only 4% regretted having them. In a following study, siblings also reported their relationship
with their affected sibling as a positive one. Less than 10% felt embarrassed, and less than 5% expressed
a desire to trade their sibling in for another brother or sister (Skotko, Levine, & Goldstein, 2011a, 2011b).
Based on the findings of the previous studies, how would the nurse answer Mrs. Alvarez’s question, “Can
you imagine how this will change my life?”
a. “You’re right. Having a genetically affected child can potentially be a serious burden.”
b. “Don’t worry so much about what others think; just concentrate on your own life.”
c. “Change can create good things in life; I believe as a door closes, a window opens.”
d. “Would it help if you talk to a family who has a child with Down syndrome?”

3. Amy Alvarez’s child is born with Down syndrome. What is a common physical feature of newborns with
this disorder that the nurse would want all of the team members to recognize?

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 a. Spastic neck muscles
b. An unusual pattern of palm creases
c. A white lock of forehead hair
d. Wrinkles on the soles of the feet

4. A woman is aware that she is the carrier of a sex-linked recessive disease (Hemophilia A): her husband is
free of the disease. What frequency of this disease could she expect to see in her children? a. All the male
children will inherit it.
b. All the female children will be carrier like she is.
c. There is a 50% chance her male children will inherit the disease.
d. There is a 50% chance her female children will inherit the disease.
.

5. The nurse is caring for a child with Down syndrome (trisomy 21). This is an example of which type of
inheritance?
a. Mendelian recessive
b. Mendelian dominant
c. Chromosome nondisjunction
d. Phase 2 atrophy
.

6. The nurse prepares a couple to have Karyotype performed. What describes a karyotype?
a. A blood test that will reveal an individual’s homozygous tendencies
b. A visual representation of the chromosome pattern of an individual
c. The gene carried on the X or Y chromosome
d. The dominant gene that will exert influence over a correspondingly located recessive gene
7. A nurse is interviewing a couple who has come for a preconception visit. The couple asks the nurse
about inheritance and how it occurs. When describing the concept of genes and inheritance, the nurse
explains that a gene that is expressed when paired with another gene for the same trait is called:
a. Dominant
b. Recessive
c. Homozygous
d. Heterozygous

8. Down syndrome may occur because of a translocation defect. This means the:
a. Infants inherits chromosomal material from only one parent.
b. Parents have a chromosomal pattern that is exactly alike.
c. Additional chromosome was inherited because it was attached to a normal chromosome.
d. Parents are such close relative that their genes are incompatible.
.

9. Both people in a married couple carry the recessive gene for cystic fibrosis. When asked about
the incidence of any children developing the disorder, what should the nurse respond? a. “There is
no chance.”
b. “There is a 1 in 4 chance.”
c. “There is a 2 in 4 chance.”
d. “There is a 3 in 4 chance.”
10. When assessing a newborn identified genetically as 46XY21+, What can the nurse expect to note
on the assessment findings? Select all that apply. a. Poor muscle tone
b. Wide, lower jaw
c. Palmar crease
d. High hair line
e. Protruding tongue

LESSON WRAP-UP (5 minutes)

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Teacher directs the student to mark (encircle) their place in the work tracker which is simply a visual to help students
track how much work they have accomplished and how much work there is left to do. This tracker will be part of the
student activity sheet.

You are done with the session! Let’s track your progress.
PERIOD 1

1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20
PERIOD 2

21 22 23 24 25 26 27 28 29 30 31 32 33 34 35 36 37 38 39 40
PERIOD 3

41 42 43 44 45 46 47 48 49 50 51 52 53 54 55 56 57 58 59 60

AL STRATEGY: CAT 3-2-1

This closure activity is to evaluate what the students learned after the discussion and the activity.

3-2-1 Three
things you learned:
1. __________________________________________________ 2.
__________________________________________________
3. __________________________________________________

Two things that you’d like to learn more about:

1. __________________________________________________
2. __________________________________________________

One question you still have:

1. __________________________________________________

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