NUR C202 - CARE OF MOTHER AND CHILD AT ➢ Genotype - the person's actual gene

RISK OR WITH PROBLEMS composition.

(ACUTE AND CHRONIC)
GENETIC AND COUNSELING
GENETICS
➢ Genetics is the study that deals with the
science of genes, hereditary, and their
variation in living organisms.
➢ Gregor Mendel is the father of Genetics
➢ William Bateson coined the term Genetics
➢ Homozygous - a person who has two like
genes for a trait on two like chromosomes.
➢ Heterozygous - if the genes differ (a
healthy gene from the mother and an
unhealthy gene from the father, or vice
versa).
➢ Inherited or genetic disorders - can be
passed from one generation to the next.
➢ Karyotype is the schematic arrangements
of the chromosomes within a cell to
demonstrate their numbers and
morphology

- hereditary = derived from parents

- familial = transmitted in the gametes through

generations

- congenital = present at birth (not always

genetically determined - e.g. congenital syphilis,
toxoplasmosis)
Genetics is a branch of science, that studies genes
& patterns of inheritance of particular diseases.

➢ In humans, each cell contains 46

➢ Genome - The complete copy of genetic
material in an organism ( about 50,000 to
100,000)
- A normal genome is abbreviated
as 46XX or 46XY. If a
chromosomal aberration exists, it
is listed after the sex
chromosome pattern (Down
syndrome - extra chromosome
21, abbreviated as 47XX21 or
47XY21.
➢ Phenotype - the person's outward
appearance.
chromosomes (22 pairs of autosomes and
1 pair of sex chromosomes).
➢ Spermatozoa and ova each carry only half
of the chromosome number or 23
chromosomes.
➢ For each chromosome in sperm cell, there
is a like chromosome of similar size, shape
& function (autosome, or homologous
chromosome) in ovum
➢ Two like genes (alleles) for every trial are
represented in the ovum and sperm on
autosomes. The one chromosome in
 which this does not occur is the
chromosome for determining gender.
ROLE OF NURSE IN GENETICS
➢ Nurses came across individuals or
families affected by genetic
diseases.
➢ Nurses are vital links between
patients and health care services.
➢ Nurses should have a basic sound
knowledge of genetics.
➢ The important role of nurses in
genetic includes.
PLANNING, SCREENING, OR
GENE-BASED TESTING
PROGRAMS
➢ Provide health education related to
genetics and genetic testing.
➢ Drawing and interpreting a
pedigree chart.
➢ Ability to recognize the possibility
of a genetic disorder based on the
pedigree chart.
➢ Assessment of a genetic risk,
especially in conjugation with
genetic testing options.
MONITORING
➢ Follow-up of positive newborn
screening test.
➢ Monitoring individuals with genetic
disorders.
➢ Working with families under stress
due to a genetic disorder.
CARE
➢ Developing an individualized plan
of care and services for affected
patients.
➢ Participating in public education
about genetics.
➢ Maintain the privacy and
confidentiality of the patient's
genetic information.
EDUCATIONAL ROLE
(GENETIC ASPECT)
➢ When a genetic condition is
identified, it leads to stress and
shock in the individuals and his
family
➢ The nurses have a major role in
counseling, reducing their fears,
getting the consent for genetic
testing and arranging the tests and
offering post test advice.
About Transmission of genetic
condition within families.
➢ If an individual is identified to have
a genetic condition, nurses should
educate the family members, who
are likely to affected and advice
counseling and screening for them
EDUCATIONAL ROLE
➢ Educate how genetics and
environmental factors influence
health and disease.
➢ Nurses should be able to identify
the Mendelian patterns of
inheritance of genetic conditions in
families in the form of a pedigree
(family tree).
IMPACT OF GENETIC CONDITIONS ON
FAMILIES
 ➢ This type of inheritance is called
Mendelian Inheritance.
➢ A defective gene is responsible for
the single gene that may be found
in the autosomes or the sex
chromosomes.
➢ When the defective gene is found
on an autosome, the mode of
inheritance is said to be autosomal
inheritance.
IMPACT OF GENETIC CONDITIONS ON
➢ If it is on the sex chromosomes, it
FAMILIES
is said to show sex-linked
➢ Guilt - Parents with the genetic
inheritance.
disorder tend to feel guilty when
they come to know that they might
AUTOSOMAL RECESSIVE PATTERN
have passed on a condition to a
OF INHERITANCE
child.
➢ Depression - When an individual
➢ Location of mutant gene: These
comes to know that he/she has a
genes are located on autosomes.
genetic condition and the decision
➢ Required number of defective
not to have a child or decision to
genes: Symptoms of the disease
terminate a pregnancy, may result
appear only when an individual has
in depression or loss of peace of
two copies of the mutant gene.
mind.
➢ When an individual has one
mutated gene and one normal
MECHANISM OF INHERITANCE
gene, the heterozygous state is
➢ Mode of inheritance is defined as
called a carrier. In the carrier state,
the manner in which a particular
the product of the normal gene is
genetic trait or disorder is passed
able to compensate for the mutant
from one generation to the next.
allele and hence the patients are
asymptomatic.
➢ Pattern of inheritance: For a child
to be at risk, both parents must
have a least one copy of the
mutant gene.
➢ Almost all inborn errors of
metabolism are autosomal
recessive disorders.
➢ Sex affected: Females and males
are equally affected.
➢ When both parents are
heterozygous for the condition:
SINGLE GENE OR MONOGENIC
Heterozygous parents carry one
DISORDERS/MENDELIAN DISORDERS
mutated gene and normal gene.
➢ Genetic Disorders that results from
When two heterozygotes mate,
mutations in single gene are called
25% of the children will be
as Single gene or Monogenic
affected, 50% will be unaffected
Disorders.
 heterozygotes and 25% will be
normal.

➢ When one parent is affected and

the other is heterozygote: The
chances are that 50% of children
will be unaffected heterozygotes
and 50% homozygously affected.

➢ When one parent is affected and

the other is normal: All the
children will be unaffected
heterozygotes

➢ When one parent is normal and

the other is heterozygote: This
may result in 50% unaffected
heterozygote carriers and 50%
normal children.

X-LINKED PATTERN OF INHERITANCE
➢ Almost all sex-linked Mendelian
Disorder are X-linked.
➢ Males with mutations affecting the
Y-linked genes are usually infertile.
➢ Expression of an X-linked disorder
is different in males and females.
Though X-linked disorders may be
inherited either as dominant or
recessive, almost all X-linked
disorders have recessive pattern of
inheritance.
➢ Females: They inherit one X
chromosome from each parent (46
XX). The clinical expression of the
X-linked disease in a female is
variable, depending on whether it
is dominant or recessive.
➢ Females are rarely affected by
X-linked recessive diseases,
however they are affected by
X-linked dominant disease.
➢ Males: They inherit only one X
chromosome from mother and Y
chromosome from father (46 XY).
Males have only one X.
chromosome and gene mutation
affecting X chromosome is fully
expressed even with one copy,
regardless of whether the disorder
is dominant or recessive.
X-LINKED RECESSIVE TRAIT
➢ This pattern of Inheritance
constitutes a small number of
clinical conditions.
➢ Location of mutant gene: Mutant
gene is on the X chromosomes
and there is no male to male
transmission.
➢ Required number of defective
gene: One copy of mutant gene is
required for the manifestation of
disease in males, but two copies of
the mutant gene are needed in
females.
➢ Sex affected: Males are more
frequently affected than females;
daughters of affected male are all
asymptomatic carriers.
➢ Pattern of inheritance:
Transmission is through female
carrier (heterozygous).
Risk of transmission to children
(offspring):
➢ When male is normal and female
is a carrier: About 25% of children
may be normal male, 25% normal
female, 25% female carrier and
25% may be male sufferer.

Risks of transmission to children
(offspring):
➢ When male is affected and
female is normal: An affected
male does not transmit the
disorder to his sons since he
donates only a normal. An affected
male always donates one copy of
his abnormal X-chromosome to all
his daughters and thus all
daughters will be asymptomatic
carriers.
GENETIC INHERITANCE OF A
DISEASE
Multifactorial (Polygenic) Inheritance
➢ Appears to occur from multiple
gene combinations possibly
combined with environmental
factors.
➢ A family history, for instance, may
reveal no set pattern.
➢ Some of these conditions have a
predisposition to occur more
frequently in one sex (cleft palate
occurs more often in girls than
boys), but they can occur in either
sex.
RISK FACTORS FORGENETIC
DISORDERS
Factors that increase your risk of
having a baby with a genetic disorder
include:
➢ Family history of a genetic disorder
➢ Prior child with a genetic disorder
➢ One parent has a chromosomal
abnormality
➢ Advanced maternal age ( 35 or
older)
➢ Advanced paternal age (40 or
older)
➢ Multiple miscarriages or prior
stillbirth
➢ It is important to know that some
birth defects, developmental
delays, and/or illnesses can be
caused by prenatal exposure to
drugs, alcohol, or other
environmental factors.
TYPES OF DISORDERS THAT CAN BE
SEEN DURING PREGNANCY
➢ Single gene disorders occur
when a change in one gene
causes a disease. Examples
include cystic fibrosis, sickle cell
anemia, and hemophilia.
➢ Chromosomal abnormalities
occur where there are missing or
extra chromosomes, or pieces of
chromosomes. Down syndrome,
the most common chromosomal
 abnormality, is caused by an extra
chromosome number 21.
Chromosome abnormalities can be
inherited from a parent or they can
happen by chance.
➢ Multifactorial or complex
disorders are caused by a
combination of genetic
predispositions and environmental
factors, which makes it harder to
predict who may be at risk.
Examples include heart defects,
cleft lip or cleft palate, and spina
bifida.
➢ Teratogenic disorders occur when
the baby is exposed to substances
during pregnancy that cause
abnormalities, otherwise known as
"teratogens." Babies are very
sensitive in the first trimester when
all of the organs are developing.
Teratogens include alcohol, drugs,
lead, high levels of radiation
exposure, certain medications,
infections, and toxic substances.
Testing for Genetic Disorders
1. Screening tests - check the risk of your
baby having certain genetic disorders.
2. Diagnostic tests - can detect if certain
genetic disorders are actually present in
the baby.
Screening and diagnostic tests are
optional. They are available to all women,
even those who do not have any known
risk factors.
TESTING FOR GENETIC
DISORDERS
Screening Tests - to check the chance of
your baby having certain genetic disorders
include:
➢ Carrier screening - a blood test
that tries to determine if either
parent carries a genetic change for
inherited disorders that could be
passed on to the baby, can be
performed on a saliva sample, best
time to be done before getting
pregnant, but it can be done during
pregnancy as well.
➢ Prenatal genetic screens - a
series of first and second-trimester
screens that use blood samples
from the mother as well as
ultrasounds to check the baby's
risk of having certain common
genetic disorders. Examples
include Down syndrome and
certain birth defects, such as spina
bifida.
➢ Noninvasive Prenatal Testing
(NIPT) or cell-free DNA
screening - a blood test that
checks DNA from the placenta that
is found in the mother's blood. This
screens for the most common
chromosome abnormalities, such
as Down syndrome and trisomy
18, and is most commonly used in
high-risk pregnancies.
Diagnostic Tests - performed during
pregnancy to detect if certain genetic
disorders are present in the baby, such as
cystic fibrosis or Down syndrome.
Diagnostic tests are generally safe
procedures when performed by an
experienced physician.
Routine diagnostic tests include:
➢ Chorionic villus sampling - tests
a sample of tissue taken from the
placenta in the first trimester.
➢ Amniocentesis - tests a sample of
the amniotic fluid taken from the
womb in the second trimester.
Additional advanced diagnostic tests
and technologies available include:
 ➢ Fetal blood sampling or
percutaneous umbilical blood
sampling (PUBS) uses a blood
sample from the baby's umbilical
cord to test for genetic disorders.
This is usually done when
amniocentesis or chorionic villus
sampling is not possible.
➢ Prenatal Chromosome Analysis
(Karyotype) is a common genetic
test performed on on cells obtained
from an amniocentesis or CVS that
can detect large changes in the
chromosomes, such as an extra or
missing chromosome or a change
in how the chromosomes are put
together.
➢ Prenatal Chromosomal
Microarray Analysis (CMA) is a
more detailed test performed on
cells obtained to detect if any
pieces of chromosomes are
missing or extra. These extra or
missing pieces may be too small to
see on a karyotype alone.
➢ Fetal genomic or whole-exome
sequencing (WES) is a diagnostic
test for pregnancies with complex
fetal conditions that checks almost
all of a baby's genes.
GENETIC COUNSELING
If you are pregnant or planning a
pregnancy, you may be referred to a
genetic counselor to:
➢ Assess your personal risk of
having a baby with a genetic
disorder.
➢ Review your testing options.
➢ Coordinate genetic screenings and
diagnostic tests and interpret the
results.
➢ Provide emotional support and
educational resources for you and
your family.
➢ Help you make informed decisions
about your pregnancy and your
baby's treatment, and prepare for
appropriate medical care.
TREATMENT FOR FETAL GENETIC
DISORDERS
In general depends on the genetic
disorder and the individual pregnancy.
In general, if your baby is diagnosed
with a genetic disorder during
pregnancy your treatment will include:
➢ Specialized care from a
maternal-fetal medicine physician.
➢ Individualized care based on the
genetic disorder, your pregnancy,
and your family's preferences.
➢ Treatment options ranging from
medical therapy during pregnancy,
such as fetal interventions, to
surgery immediately after birth.
➢ A multidisciplinary, collaborative
healthcare team, including genetic
counselors, imaging specialists,
fetal specialists, fetal and neonatal
surgeons as needed, and
neonatologists and pediatricians
experienced in the treatment of
children with genetic disorders
➢ Support services for you and your
family.