Care of Mother, Child and Adolescent (Well-

Clients)
STUDENT ACTIVITY SHEET BS NURSING / SECOND YEAR
Session # 4

LESSON TITLE: NURSING ROLE IN GENETIC

ASSESSMENT AND COUNSELING

Materials
LEARNING OUTCOMES: Book, paper, pen, notebook, and LCD projector
At the end of the lesson, the student nurse can:
1. Explain the genetic disorder.
2. Determine the nature of inheritance.
3. List the roles and responsibilities of the nurse in
genetic assessment and counseling. Reference
4. Identify the common chromosomal abnormalities.
Pilliteri, Adele and Silbert-Flagg, JoAnne (2018)
Maternal and Child Health Nursing, 8th Edition.
USA: Lippincott Williams and Wilkins

LESSON REVIEW/PREVIEW (10minutes)

MAIN LESSON (50 minutes)

Kindly refer to Chapter 8: The Nursing Role in Genetic Assessment and Counseling p.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 Nature of Inheritance
- Inherited or genetic disorders are disorders that Genes- are the basic units of heredity that determine both
can be passed from one generation to the next physical and cognitive characteristics of people.
because they result from some disorder in the Are composed of segments of DNA, which are woven into
gene or chromosome structure. strands in the nucleus of all body cells to form chromosome.
- may occur at the moment an ovum and a sperm Alleles-are the two like genes on autosomes.
fuse or even earlier, in the meiotic division phase Phenotype-refers to a person’s outward appearance or the
of the gametes expression of genes.
- 50% of 1st trimester spontaneous miscarriages Genotype-refers to a person’s actual gene composition.
Genetics -is the study of the way such disorders occur. Genome-is the complete set of genes present (about
Cytogenetics- is the study of chromosomes by light 50,000 to 100,000).
microscopy and the method by which chromosomal -the collection of genetic information.
aberrations are identified. 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.

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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
❖ Autosomal Dominant vs. Autosomal Recessive Inheritance

1. Autosomal Recessive- disease does not occur unless 2. Autosomal Dominant- either a person has 2 unhealthy
2 genes for the disease are present (homozygous genes (HOMOZYGOUS DOMINANT e.g.DD) or is
recessive pattern) heterozygous, with the gene causing the disease stronger
• CF, albinism, adrenogenital syndrome, than the corresponding healthy recessive gene for the
Tay-Sach’s, Galactosemia, PKU, Rh- same trait (e.g. Dd)
incompatibility

3. X-linked Dominant Inheritance 4. X-linked Recessive Inheritance

❖ Usually, only males will have the disorder
❖ genes are located on and transmitted only by the ❖ history of girls dying at birth for unknown reasons
female sex chromosome (X chromosome) (females with affected gene on both X
❖ if the affected gene is dominant, only 1 X chromosomes)
chromosome with the trait need be present for ❖ hemophilia A, Christmas disease, color blindness,
Duchenne muscular dystrophy and fragile X
symptoms of the disorder to be manifested syndrome (cognitive challenge syndrome)
❖ Alport’s syndrome- progressive kidney failure

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 disorder

Multifactorial (Polygenic) Inheritance

❖ from multiple gene combinations plus environmental factors
❖ heart disease, Diabetes Mellitus, cleft palate, Neural Tube Defects, pyloric stenosis
CHROMOSOMAL ABNORMALITIES (CYTOGENIC DISORDERS)
❖ Abnormalities due to 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 identified by karyotyping or by this process
A. Nondisjunction Abnormalities
❖ the division is uneven (NONDISJUNCTION) 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
❖ Down syndrome (Trisomy 21) increases with maternal & paternal age
❖ Turner & Klinefelter syndrome

B. 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-), 1 portion of chromosome 5 is missing

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C. Translocation Abnormalities
❖ a child gains an additional chromosome through another route
❖ TRISOMY 21

D. 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

E. Isochromosomes
• chromosome accidentally divides not by a vertical
separation but by a horizontal one, a new
chromosome with mismatched long and short
arms can result.
• much the same effect as a translocation
• Turner’s syndrome

GENETIC COUNSELLING

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Purposes: Couples who may benefit include those:
• Provide concrete, accurate information: process of • who have a child with congenital disorder or an
inheritance & inherited disorders
inborn error of metabolism
• Allow people to make informed choices about • whose close relatives have a child with a genetic
future reproduction
disorder such as translocation disorder or inborn
• Offer support to people who are affected by error of metabolism
genetic disorders • Who are known balanced translocation carriers
• With inborn error of metabolism or chromosomal
disorder
• Who are a consanguineous couple (closely
related)
• With the woman older than 35 and the man older
than 55
• Are of ethnic backgrounds in which specific
illnesses are known to occur; Chinese (G6PD,
Mediterranean, thalassemia)
Nursing Responsibilities
• Explaining to a couple what procedures they can expect to undergo
• Explaining how different genetic screening tests are done and when they are usually offered
• Supporting a couple during their wait for test results
• Assisting couples in values clarification, planning, and decision-making based on the results
• *do not impose your own values or opinions
ASSESSMENT FOR GENETIC DISORDERS Maternal Serum Screening

A. HISTORY Alphafetoprotein (AFP) secreted by the fetal liver peaks

in maternal serum between the 13 and 32 week;
• Document diseases in family members level is elevated with fetal spinal cord disease
• Ethnic background
• Mother’s age, spontaneous miscarriage decreased with fetal chromosomal disorder like Trisomy
21
B. PHYSICAL ASSESSMENT
• Physical Examination of family member with a Chorionic Villi Sampling- involves retrieval & analysis of
disorder, siblings and the couple. chorionic villi from the growing placenta for chromosome
or DNA analysis
• Check: space between the eyes, height, contour,
shape of ears, number of fingers & toes, webbing, Amniocentesis- withdrawal of AF through the abdominal
dermatoglyphics (markings on skin), abnormal wall for analysis at the 14th to 16th week
fingerprints, palmar creases, abnormal hair whorls
or hair coloring
Percutaneous Umbilical Blood Sampling- or
DIAGNOSTIC TESTING cordocentesis is the removal of fetal cord blood at 17
weeks using amniocentesis methods
• Karyotyping-sample of peripheral venous blood
or scraping of cells from the buccal cavity; cells
are grown to metaphase, stained, placed under a
microscope & photographed (chromosomes are
identified according to size, shape & stain)
COMMON CHROMOSOMAL ABNORMALITIES
Trisomy 13 Syndrome (47XY13+ or 47XX13+) or Klinefelter Syndrome (47XXY)
PATAU Syndrome • males with extra X chromosome
• extra chromosome 13, severely cognitively • no development of secondary sex characteristics
challenged during puberty; small testes with ineffective
sperm, gynecomastia, increased risk for breast
• midline body disorders like cleft lip/palate, heart CA
defects, abnormal genitalia, microcephaly,
microphthalmia, low-set ears; Fragile X Syndrome (46XY23q-)
• most do not survive beyond early childhood • most common cause of cognitive challenge in
malesX-linked -1 long arm of X chromosome is
defective
Trisomy 18 (47XX18+ or 47XY18+) • before puberty, boys demonstrate maladaptive
behaviours like hyperactivity or autism, reduced
• they have 3 copies of chromosome 18

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 • severely cognitively challenged, SGA, low-set intellectual functioning with marked deficits in
ears, small jaw, congenital heart defects, speech & arithmetic
misshapen fingers & toes, rocker-bottom feet • large head, long face with high forehead,
prominent lower jaw, large, protruding ears,
• do not survive beyond early infancy hyperextensive joints, cardiac disorders
• after puberty, large testicles
Cri-du-chat syndrome (46XX5p- or 45XY5p-) • fertile
• result of missing portion of chromosome 5
• abnormal cry, small head, wide-set eyes,
downward slant to the palpebral fissure, severely Down Syndrome (Trisomy 21) (47XY21+ or 47XX21+)
most frequently occurring chromosomal abnormality (1 in
cognitively challenged
800 pregnancies)

Turner Syndrome (45XO) or Gonadal Dysgenesis • broad & flat nose

only 1 functional X chromosome • eyelids have an extra fold of tissue at the inner
• short in stature canthus (epicanthal fold)
• streak (small non-functional) ovaries, sterile, & • palpebral fissure tends to slant upward,
• iris may have white specks (Brushfield spots)
secondary sex characteristics except for pubic
• tongue may protrude since the oral cavity is small
hair, do not develop during puberty
• back of the head is flat
• hairline at the nape of the neck is low-set
• poor muscle tone (rag-doll appearance) that the
• neck is webbed & short, toe can touch the nose
• Newborn may have edema of the hands & feet & • fingers are short & thick and the little finger is
anomalies like Coarctation of the Aorta & kidney curved inward,
disorders • wide space between the 1st & 2nd toes & between
• learning disabilities the 1st & 2nd fingers, palm of hand has a simian
• human growth hormone and estrogen therapy line
may cause appearance of sex characteristics • cognitively-challenged to some degree (50-70%)
• neck is short, extra pad of fat at the base of the
head causes the skin to be loose it can be lifted
easily (puppy’s neck)

CASELET

The nurse is conducting health teaching about Genetic counseling and testing. How will you respond to the concerns of the
participants on the following?
1. Why do a pregnant woman wait so late in pregnancy for a genetic study by amniocentesis?
2. Why do laboratory results takes too long for karyotyping?

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CHECK FOR UNDERSTANDING ( 25 minutes)
You will answer and rationalize this by pair. This will be recorded as your quiz. One (1) point will be given to correct
answer and another one (1) point for the correct ratio. Superimpositions or erasures in you answer/ratio is not allowed.

Multiple Choice

1. Which of the following couples would benefit most from genetic counseling?
A. Tom, age 50, and Alice age 42, who have discovered they are going to have a baby
B. Mel & Rose, who have just had a child with cystic fibrosis
C. Jon and Jan, who want to have a male child
D. Leo, who has hemophilia, and Sara, married for a year and want to have a child
ANSWER:
RATIO:

2. The genetic disorder does not occur unless 2 genes for the disease are present
A. Heterozygous Dominant
B. Heterozygous Recessive
C. Homozygous Dominant
D. Homozygous Recessive
ANSWER:
RATIO:
__

3. It refers to a person’s actual genetic composition

A. Genotype

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 B. Phenotype
C. Genome
D. Karyotype
ANSWER:
RATIO:

4. All are typical symptoms of Down syndrome (Trisomy 21), EXCEPT:

A. Brushfield spots
B. Simian crease
C. weak, shrill cry
D. short palpebral fissure
ANSWER:
RATIO:

5. This is a type of disorder that has the ability to be passed from 1 generation to another:
A. Lifestyle Disorder
B. Degenerative Disorder
C. Idiopathic Disorder
D. Genetic Disorder
ANSWER:
RATIO:

6. Which of the following is a trisomy?

ANSWER:
RATIO:

7. When paired with other genes, this gene is always expressed:

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 A. Dominant
B. Recessive
C. Autosomal
D. X-linked
ANSWER:
RATIO:

8. What is the most appropriate role for the nurse involved in genetic counseling?
A. Assess the options available to a couple and select the best ones to present for the couple to choose from.
B. Instruct the couple on the need for an immediate abortion if both parents have the trait for a dominant disease.
C. Limit the information provided to the couple about the genetic defect to avoid influencing their decision.
D. Inform the couple of the procedures they may undergo in genetic screening and in genetic counseling.
ANSWER:
RATIO:

9. To determine if a disorder occurred by chance or is carried by family members, the nurse should collect which
of the following data?
A. Complete family history of infant deaths or abnormalities
B. Prenatal history of nausea and reports of ankle edema in the third trimester
C. History of the couple’s sexual pattern during the time of conception
D. Physical assessment of the infant’s eye and hair color
ANSWER:
RATIO:

10. If blonde hair color is a recessive trait and one parent is heterozygous for the trait and the other parent is
heterozygous for the trait, what ae the chances that their offspring will have blonde hair?
A. 25% (one in four)
B 50% (two in four)
C. 75% (three in four)
D. 100% (four in four)
ANSWER:
RATIO:

RATIONALIZATION ACTIVITY (THIS WILL BE DONE DURING THE FACE TO FACE INTERACTION)
The instructor will now rationalize the answers to the students. You can now ask questions and debate among yourselves.
Write the correct answer and correct/additional ratio in the space provided.

1. ANSWER:
RATIO:

_
2. ANSWER:
RATIO:

_
3. ANSWER:
RATIO:

_
4. ANSWER:

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 RATIO:

_
5. ANSWER:
RATIO:

_ _
6. ANSWER:
RATIO:

_
7. ANSWER:
RATIO:

_
8. ANSWER:
RATIO:

_
9. ANSWER:
RATIO:

_
10. ANSWER:
RATIO:

LESSON WRAP-UP (5 minutes)

You will now mark (encircle) the session you have finished today in the tracker below. This is simply a visual to help you
track how much work you have accomplished and how much work there is left to do.

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

Period 1 Period 2 Period 3

1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23

AL STRATEGY: CAT 3-2-1

This closure activity is to evaluate what you had 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. _____

For next session: Kindly read Chapter 2: Diversity and Maternal Child Nursing p.23

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