Genetic Disorders

C.S 5 (2 hours)
Chapter 8 The Nursing Role in
Genetic Assessment and
Counseling

Mrs. Kanchana
OCHS-NSB
18/09/2023
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 Preview Questions CS-2
1. Specify the name of Higher diploma program
offered for maternity nursing in Oman and
which institute offers it?

2. Specify three trends in maternal health Nursing

3. What is the maternal mortality rate statistics in
Oman according to the MoH annual Health
Report 2022?

9/23/2023 CS-5 Genetic Disorders Slide 2

 References

Required Text book:

Silbert-Flagg, JoAnne & Pillitteri A
(2018) Maternal & Child Health
Nursing: Care of the Childbearing &
childrearing family (8th edn)
Philadelphia: Lippincott Williams
and Wilkins. Page: 156-166

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 Objectives
1. Define the following terms: genetic, cytogenetic,
Genes, chromosomes, phenotype, genotype,
genome, homozygous & Heterozygous.
2. Discuss the types of inheritance of diseases. (Refer
to 6th edition Textbook. PDF attached to the
classroom)
3. Discuss the importance of genetic counseling,
couples who benefit from it and the nursing
responsibilities ( SDLA)
4. Discuss the assessment of genetic disorders.
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 Important Terminologies

1. Genetic disorders: is the disorders that can be

passed from one generation to the next because of
some disorder in gene or chromosome structure.

2. Genetics: is the study of the way how genetic

disorders occur

3. Cytogenetics is the study of chromosomes by light

microscopy and the method by which
chromosomal abnormalities are identified
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 Important Terminologies

4. Chromosome: thread like structure which stores

genetic information in the form of genes in the nucleus
of living cells.

Chromosomes are threadlike structures of nucleic acids

and protein found in the nucleus of most living cells,
carrying genetic information in the form of genes.)
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 Important Terminologies

5. Genes: are the basic units of heredity that determine

physical and cognitive characteristics of people or
individual. It is Instruction (blue print) that tell our bodies
how to develop and keep our body intact and healthy.

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 Important Terminologies

6. Alleles: two same genes (located at fixed

position in pair chromosomes)
7. Phenotype: Refers to the person outward
appearance or the expression of genes. (i.e., Eye
color, hair color, height).
8. Genotype: Refers to the person actual genetic
composition.
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 Important Terminologies

9. Genome: Is the complete set of genes present.

A normal genome is abbreviated as 46XX OR 46XY
10. Homozygous: Having two like genes for the
trait on two like chromosomes e.g. TT, rr , RR, tt .
11. Heterozygous: Having two different gene for
the trait on two like chromosomes e.g Tt, Rr

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 Types of disease inheritance

1. Autosomal Dominant disorder

2. Autosomal Recessive inheritance
3. X- Linked Dominant inheritance
4. X-Linked Recessive inheritance

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 Autosomal Dominant disorder inheritance
Father hD x Mother hh Father hD x Mother hD
hh hD hh hD
Healthy Heterozygous Healthy child Heterozygous
child dominant dominant

Children
disorders disorders
Children

hh hD hD DD
Healthy Heterozygous Heterozygous Homozygous
child dominant dominant dominant
disorders disorders disorders

hh – 50% are healthy or disease free hh – 25% are healthy or disease free
hD – 50% are having heterozygous hD – 50% are heterozygous dominant
disorders dominant disorder DD- 25% are homozygous dominant
disorders

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 Autosomal Recessive disorder inheritance
1.Father Hd x Mother Hd 2. Father HH x Mother Hd

HH Hd
HH Hd
Healthy child Disease
Children

Healthy Disease

Children
carrier
child carrier
Hd dd
HH Hd
Disease Homozygous
Healthy Disease
carrier recessive
child carrier
disorder

HH – 25% are healthy or disease free HH – 50% are healthy or disease free
Hd – 50% disease carrier Hd- 50% are heterozygous (disease carrier)
dd- 25% Homozygous recessive disorder
Children with Hd should be counseled not
to marry from mate with Hd
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 Autosomal Recessive disorder inheritance

3.Father HH x Mother dd 4. Father Hd x Mother dd

Hd Hd Hd Hd
Disease Disease Disease Disease

Children
Children

carrier carrier carrier carrier

Hd Hd
Disease Disease dd dd
carrier carrier Homozygous Homozygous
recessive recessive
Hd – 100% disease carrier disorders disorders
dd – 50% are having the disease

Hd -50% are heterozygous (disease

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carrier)
CS-5 Genetic Disorders Slide 13
 Autosomal Recessive disorder inheritance

5. Father dd x Mother dd
dd dd
Homozygous Homozygous
Children

recessive disorders recessive disorders

dd dd
Homozygous Homozygous
recessive disorders recessive disorders

dd – 100% Homozygous recessive disorders

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 X- linked dominant disorder inheritance

Father xy vs Mother Xx
Xx xx
Children Affected Healthy female
female
Xy xy
• Affected male Healthy male

• Xx–25 % affected female

• xx- 25% Healthy female
• Xy- 25% affected male
• xy- 25% Health male
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 X- linked dominant disorder inheritance

Father Xy vs Mother xx
Xx Xx
Affected female Affected female
Children

xy xy
Healthy male Healthy male

Xx–50 % affected female

Xy- 50% Healthy male

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 X- linked dominant disorder inheritance

Father xy vs Mother XX
Xx Xx
Affected female Affected female
Children

Xy Xy
Affected male Affected male

Xx–50 % affected female

Xy- 50% affected male

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 X- linked recessive disorder inheritance
Father Xy vs Mother Xx Father xy vs Mother XX
XX Xx Xx Xx
Healthy Female Female Female
Children

female carrier carrier carrier

Children
Xy xy Xy Xy
Healthy Affected Healthy Healthy
male male male male

XX–25 % Healthy female Xx- 50% Female carrier

Xx- 25% Female carrier Xy- 50% Health male
Xy- 25% Healthy male
xy- 25% Affected male
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 Assessment of Genetic Disorders

1. History

2. Physical Assessment

3. Diagnostic testing

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 Assessment of Genetic Disorders
History:
1. Diseases in family members for a minimum of
three generations
2. Mother’s age
3. Whether consanguineous parents
4. Family ethnic background
5. Spontaneous miscarriage or children died of
unknown chromosomal disorder
6. Environment conditions

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 Assessment of Genetic Disorders
• Physical Assessment (Inspection):
1.Space between the eyes
2.Position of ears ( low set ears)
3.Epicanthal folds
4.Webbed neck
5.Number of fingers and toes
6.Presence of webbing
7.Abnormal palmar creases
8.Abnormal whorls or coloring of hair
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Dermatoglyphics – the study of surface markings
of the skin
• Unusual finger prints
• Abnormal palmar crease
• Hair whorls
• Color of hair

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 TABLE 8.1 COMMON PHYSICAL CHARACTERISTICS OF CHILDREN
WITH CHROMOSOMAL SYNDROMES

Physical Characteristics Possible syndrome

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 TABLE 8.1 COMMON PHYSICAL CHARACTERISTICS OF CHILDREN
WITH CHROMOSOMAL SYNDROMES
Physical Characteristics Possible syndrome

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 Assessment of Genetic Disorders

Diagnostic Assessment
1.Karyotyping
2.Maternal Serum Screening
3.Chorionic Villi Sampling
4.Amniocentesis
5.Percutaneous umbilical blood sampling
6.Fetal imaging
7.Fetoscopy
8.Preimplantation diagnosis
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 Karyotyping
• Sample of peripheral venous blood or scraping of cells
from the buccal membrane is taken and grown.
• Cells are stained & placed under a microscope and
photographed.
• Chromosome are identified according to size, shape and
stain. Any abnormal chromosomes can be visualized.

Slide 27

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 Karyotype

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Alpha-fetoprotein (AFP)/Maternal Serum Alpha-
Fetoprotein (MSAFP)

Definition
Alpha-fetoprotein (AFP) is a glycoprotein
produced in the fetal liver, gastrointestinal tract,
and yolk sac in early gestation.

• Assessing for fetal developmental defects

(Neural tube defects and ventral abdominal wall
defects.)
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 Maternal Serum Screening for Alpha-Fetoprotein
(MSAFP)
When MSAFP is performed?
• between 15thand 20th weeks of pregnancy

How to interpret the finding?

• If level elevated, indicates fetal spinal cord disease.
• If level decreased, indicate chromosomal disorder
(trisomy 21).

• MSAFP test has a false positive result .Use of “triple

study” reduce this false positive rate (AFP, estriol and
HCG)
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 Chorionic Villi Sampling (CVS)

aspiration of a small
amount of placental
tissue (chorion) for
chromosomal,
metabolic, or DNA
testing.

Highly accurate test done at 8-10 week and yields no more false
positive results.
• Risk: excessive bleeding leading to pregnancy
loss.
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 Chorionic Villi Sampling (CVS)
• Post procedure: report chills or fever (Indicates
infection or symptoms of threatened miscarriage)
• Women with RH negative need Rh immune
globulin administration after the procedure.
• cells removed in CVS are karyotyped or submitted
for DNA analysis.
• Not all inherited diseases can be detected by CVS.

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 Amniocentesis

a needle is inserted
through the
maternal abdominal
wall into the uterine
cavity to obtain
amniotic fluid

• Withdrawal of amniotic fluid through the abdominal

wall at the 14th to 16th week of pregnancy.
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 Amniocentesis
• skin cells found in fluid are karyotyped for
chromosomal number and structure.
• level of AFP and lack of specific enzyme is
analyzed
• Risk: spontaneous miscarriage.
• Post procedure: Observe for labor contraction
and monitor FHR 30 minutes.
• administer Rh immune globulin for RH negative
Women after procedure

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 Percutaneous Umbilical Blood Sampling
(PUBS) (Cordocentesis)

• Removal of blood from fetal

umbilical cord after 17th
weeks using an
amniocentesis technique
through maternal abdomen

• It allow analysis of blood

components and
karyotyping
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 Fetal imaging
• Magnetic resonance imaging (MRI) and ultrasound
scan
• assess the fetus size, structural disorders of the
internal organs, spin and limbs.
• Example- Cleft lip
• Done in 18-22 weeks
• Non invasive

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 Fetoscopy
• Done in 2nd and 3rd trimester
• Insertion of a fiberoptic fetoscope
through a small incision in the
mother’s abdomen into the uterus
and membranes to visually inspect
the fetus for gross abnormalities.
• Used to confirm an ultrasound
finding
• Used to remove skin cells for DNA
analysis
• Risk of miscarriage
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 Preimplantation Diagnosis
• Cell sample is taken from a day 3 or day 5 of
embryo prior to implantation
• fertilized ovum is investigated for chromosomal
abnormalities.
• Provides genetic information extremely in early
pregnancy.
• Risk of destruction of embryo

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 Assessment for genetic disorders

• detailed family history, preferably of three

generations
• a physical examination of both the parents
and any affected children
• series of laboratory assays of blood, amniotic
fluid, and maternal and fetal cells

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 Assessment for genetic disorders
In the first trimester to evaluate for chromosomal
disorders in the fetus :
1. routine sonogram screening (a nuchal translucency
scan)
2. an analysis of maternal serum levels of α-fetoprotein
(MSAFP)
3. pregnancy-associated plasma protein A (PAPP-A),
and
4. free beta hCG

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 Assessment measures for genetic disorders
• Non pregnant women over the age of 35 years can
have a noninvasive blood test to identify circulating
cell-free DNA (cfDNA) testing, to screen for
chromosomal disorders. (accurate)

• Chorionic villi sampling (CVS) and amniocentesis are

techniques are for women who are older than 35
years of age, or to those whose genetic testing is
abnormal.
(assess karyotype which can tell about the presence or
absence of chromosomal disorders)
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 Assessment measures for genetic disorders

Couples who already know of the existence of a genetic

disorder in their family or those who have had a previous
child born with a congenital anomaly
cfDNA testing, CVS, or amniocentesis test for more
accurate screening and diagnosis of chromosomal
disorders.

• Nurses as members of genetic assessment and

counseling team helps with family history, physical
examination, blood serum analysis and procedures such
as amniocentesis
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 Importance of genetic counseling
• Provide concrete, accurate information about the
process of inheritance and inherited disorders
• Reassure people who are concerned their child
may inherit a particular disorder that the disorder
will not occur
• Allow people who are affected by inherited
disorders to make informed choices about future
reproduction
• Allow people to pursue potential interventions
(fetal surgery)
• Allow families to begin preparation for a child
with special needs
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 Couples who benefit from Genetic Counselling( SDLA)

• A couple who has a child with a congenital disorder

or an inborn error of metabolism.

• A couple whose close relatives have a child with a

genetic disorder such as a chromosomal disorder or
an inborn error of metabolism.

• Any individual who is a known carrier of a

chromosomal disorder.

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Couples who benefit from Genetic Counselling( SDLA)

• Any individual who has an inborn error of

metabolism or chromosomal disorder.

• A consanguineous (closely related) couple.

• Any woman older than 35 years of age and any

man older than 55 years of age.

• Couples of ethnic backgrounds in which specific

illnesses are known to occur.
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 Nursing responsibilities in Genetic Counselling
( SDLA)
• Obtaining a detailed history of patient and spouse
• Assess whether couple would like to speak to an expert in
the field of genetics
• Perform genetic testing and develop a family genogram
• Assess and analyse if the couple is maintaining a healthy
diet
• Assess if the couple wants to get in touch with the
counsellor
• Assess community support organizations available
• Direct counselling is a role for nurses who are adequately
prepared in the study of genetics,
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 Common Principles in Genetic Counselling

• The individual or couple being counselled needs a clear

understanding of the information provided.
• It is never appropriate for a healthcare provider to
impose his or her own values or opinions on others.
• Be certain couples have been told all the options
available to them and then leave them to think about
the options and make their decision by themselves.
• Help them to understand that no one is judging their
decision because they are the ones who must live with
the decision in the years to come.

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• SUMMARIZE

• Any Questions….

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 Review Question

1. How many chromosome or pairs does the cell

contains?
46 chromosomes or 23 pairs
2. How do we got that pairs?
23 chromosomes from sperm and 23 chromosomes
from ovum
3. What are the types of chromosomes?
22 Pair Autosomes & 1 Pair Sex hormones
5. What are Female and Male sex chromosomes?
XX: Female XY: Male

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 Thank you.

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