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DEFINITION OF TERMS
❖Procreation—the entire
reproductive process
of producing offspring.
❖is the creation of a new
human person, by the
act of sexual
intercourse, by a man
and a woman.
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 DEFINITION OF TERMS
❖Creation—making of all
things from nothing, by
an act of God, at some
time in the past.
❖ procreate (syn)-
reproduce, multiply,
propagate, breed etc..
• Reproduction—the
sum of the cellular
and genetic
phenomena by
which organisms
produces offspring
similar to themselves
so that the species is
perpetuated.
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• Evolutionary theory- the
theory that all things came
about by the repeated random
actions of natural selection,
whereby:
1. Life came into existence, and
then
2. Primitive life evolved into
more and more complex
organisms, and eventually
producing mankind.
❖ Evolutionary theory requires
the assumption of billions
of years for its processes.
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 THEORIES RELATED TO
PROCREATION
A. CHRISTIAN
THEORY OF
PROCREATION
–Man is created in the
likeliness of God
–Man is created to be
fruitful
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and to multiply
B. MONOGENETIC
THEORY OF
PROCREATION
❖Otherwise known as
“seminal conception”
❖Men—not men and
women—are thought to
bring life into this world;
thus, only the fathers are
the true ‘blood’ relatives of
their children (Turkish)
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• They view men literally as
creating life in relation to pre-
formed fetuses that they carry
in their sperm and ejaculate
into women’s waiting wombs
(Egyptian’s)

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C. DUOGENETIC
THEORY OF
PROCREATION
–Equal contribution of
man and woman to the
hereditary substance of
the fetus, formed
through the union of a
woman’s ovum and
man’s
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spermatozoa
 “View of Clement of Alexandria”
—the formation of the conceived
matter occurs when the seed (sperm)
has mingled with the pure residue of
the menses.

“Aristotle’s conception theory”

—the male sperm contains the power
that triggers the process of embryonic
development, but the sperm itself
contributes nothing material to the
fetus and vanishes

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D. Theory of
evolution
❖Sexual reproduction allows
genetic recombination in order
to withstand natural selection
and evolve.
❖the theory that all things came about
by the repeated random actions of
natural selection, whereby:
1. Life came into existence, and then
2. Primitive life evolved into more and
more complex organisms, and
eventually producing mankind.
❖ Evolutionary theory requires the
assumption of billions of
years for its processes.
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 Process of
human
reproduction
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 I. Childbearing
❖ the best age for childbearing is
between 20 and 35 years of age.
❖the ideal range is between 25 and
35 due to the fact that most
individuals have completed their
education and are in the workforce
by age 25.
❖ Although it is possible, childbearing
after age 35 is not ideal due to the
fact that age-related fertility
problems increase after this age.
❖ We are referring having the 1st
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child at the age of 35 and above.
 I. Childbearing
❖ Man + woman (sexual act)
❖ Union of the sperm and ovum
(Fertilization/conception)
❖Trimester pregnancy (9 months
of pregnancy)
❖Birth

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❖Postpartum

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 II. Childrearing
❖“The process of taking care
of and raising children.”
❖Each parent raises their
children differently from other
parents – as long as the
methods used are
appropriate, loving and safe.

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 Genetic disorders
❖Genetic disorders are physical
defects or illnesses that are
caused by problems in your
body's genetic code.
❖Everybody is made up of 46
chromosomes, and these
chromosomes carry your DNA.
❖DNA is responsible for dictating
how you will look, act, and
develop.

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 Risk Factors That
Will Lead to
Genetic
Disorders

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❖Problems in the genes or
chromosomes of a fetus are
called genetic disorders.
❖Genetic disorders-

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 Genetic disorders
❖When a baby is conceived, he
receives 23 chromosomes from his
mother and 23 chromosomes from
his father.
❖These chromosomes come together
to complete an entire genetic code.
❖Sometimes, however, defects can
occur in some of the chromosomes
or individual genes.
❖As a result fetal development can
change, and the baby can be born
with a genetic disorder.
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 What are the types of genetic
disease?

❖Chromosomal abnormalities- is
a missing, extra, or irregular
portion of chromosomal DNA

❖Single gene defects- When

a certain gene is known to cause a
disease, we refer to it as a
single gene disorder or a
Mendelian disorder.

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❖Multifactorial problems

❖Teratogenic problems

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Several factors increase the likelihood that a person will
inherit an alteration in a gene.
The following factors may increase the chance of getting or
passing on a genetic disease:

1. FAMILIAL FACTORS

a) Parents who have a

genetic disease

b) A family history of a
genetic disease
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c) Parents who do not show disease
symptoms, but "carry" a disease gene
in their genetic makeup (this can be
discovered through genetic testing).

d) Parents who are closely related

(con·san·guin·e·ous couple); brother
and sister= 50% of their genes is
common; First cousins= 12%

e) part of a distinct ethnic or geographic

community- couples of ethnic
background in which specific illnesses
are known to occur.

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 2. Age- Any woman older
than 35 years of age and
any man older than 45
years of age (having the 1st
child).
3. the previous baby

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 Common Assessment Tests
for Determination of Genetic
Abnormalities
1. FAMILY HISTORY
a. Mother’s age-
b. Birth defect in the
previous baby,
spontaneous
miscarriage, or stillbirth
c.Ethnic background
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 Ethnicity Common Genetic
Disorder
African-American, Indian, Middle Sickle-cell anemia;
Eastern thalassemia

European Jewish, French Tay-Sachs disease

Canadian

Mediterranean, Southeast Asian Thalassemia

➢ Greek, Italian ➢ β-thalassemia
➢ Southeast Asia (Philippines) ➢ α-thalassemia

Caucasian Cystic fibrosis

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 d. Family genogram:
diagram detailing family
structure, providing
information about
family’s history

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 Family
genogram
2. PHYSICAL
ASSESSMENT
 DOWN SYNDROME

❖Is actually a chromosomal

disorder, caused by the
presence of an extra
chromosome. In this
case, instead of having
two of chromosome 21,
your baby will have 3.
This is why Downs
Syndrome is sometimes
referred to as Trisomy 21.
 Common physical characteristics of children with chromosomal disorder

Characteristics Probable Syndrome

Late closure of fontanelles Down syndrome

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 Characteristics Probable Syndrome
Abnormal iris color Down syndrome

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Characteristics Probable Syndrome
Slant of eyes Down syndrome
 Characteristics Probable Syndrome
Epicanthal fold Down syndrome

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 Characteristics Probable Syndrome
Large tongue Down syndrome

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Clinodactyly Down syndrome

- Curving of the fifth

finger (the little finger)
toward the fourth
finger (the ring finger).
Simian crease on palm Down syndrome
 Fragile X syndrome
❖Fragile X syndrome is a genetic condition
that causes a range of developmental
problems including:
1. learning disabilities
2. cognitive impairment.

❖ Usually, males are more severely affected

by this disorder than females.
 Characteristics Probable Syndrome
Bossing (prominent forehead) Fragile X syndrome

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 Characteristics Probable Syndrome
Prominent jaw Fragile X syndrome

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 Trisomy 18
❖ Trisomy 18, also known as Edwards
syndrome, is a condition which is
caused by a error in cell
division, known as meiotic
disjunction.
❖ When this happens, instead of the
normal pair, an extra chromosome 18
results (a triple) in the developing
baby and disrupts the normal pattern
of development in significant ways
that can be life-threatening, even
before birth.
 Trisomy 13
❖ Trisomy 13, also called Patau syndrome,
is a chromosomal condition
associated with severe intellectual
disability and physical abnormalities
in many parts of the body.

❖ Individuals with trisomy 13 often have

heart defects, brain or spinal cord
abnormalities, very small or poorly
developed eyes (microphthalmia),
 Characteristics Probable Syndrome
Microcephaly Trisomy 18, Trisomy 13

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Characteristics Probable Syndrome
Low-set ears Trisomy 18, Trisomy 13
Multiple hair whorls Trisomy 18, Trisomy 13
Rocker-bottom feet Trisomy 18
Wide-set nipples Trisomy 13
 Turner syndrome
❖ Turner syndrome is a chromosomal condition that
affects development in females.

❖ The most common feature of Turner syndrome is short

stature, which becomes evident by about age 5.

❖ An early loss of ovarian function .

❖ The ovaries develop normally at first, but egg cells

(oocytes) usually die prematurely and most ovarian
tissue degenerates before birth.
 Characteristics Probable Syndrome
Low-set hairline Turner syndrome

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Webbed neck Turner syndrome
 Assignment:

Heart abnormalities Many syndromes

Large hands Fragile X syndrome
Overriding of fingers Trisomy 18
Abnormal dermatoglyphics Down syndrome
Absence of secondary sex Klinefelter and Turner

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 Diagnostic/screening
tests
❖ For genetic counselling to be
effective, the extra type of
involvement being considered
must be identified as accurately
as possible. Techniques of
laboratory analysis that are
helpful in genetic screening are
the following:
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1. KARYOTYPING
❖Visual presentation of the
chromosome pattern of
an individual.
❖ A sample of peripheral
venous blood is or
scraping of cell from the
buccal membrane is
taken.

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 ❖ Karyotype is an organized
profile of an individual’s
chromosomes
❖Karyotyping is a technique
that is use to examine
chromosomes in a sample of
cells which can help identify
genetic problems as the
cause of disorder or a
disease

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 2. MATERNAL SERUM
SCREENING
❖ Maternal serum screening is used in the
second trimester of pregnancy to help
evaluate the risk that a fetus has certain
chromosomal abnormalities, including

✓ Down syndrome (trisomy 21)

✓ Edwards syndrome (trisomy 18),
✓ neural tube defects such as spina
bifida
✓ or a condition called anencephaly.

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❖ ALPHA-FETO PROTEIN (AFP)—glycoprotein
produced by the fetal liver and
peaks in maternal serum between
13th-32nd weeks AOG

❖ AFP is a substance made by the baby

that enters the amniotic fluid (the bag
of water surrounding the baby) and
the mother’s bloodstream.
❖ A small amount of is normally found in the
amniotic fluid and the mother’s blood.
When the amount is high, it is a signal
to the physician to look further for the
possibility of a neural tube defect.

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• Blood extraction done at the 15th-20th AOG
↑ : Neural tube defect
: Esophageal obstruction
: Abdominal wall defects
: Threatened abortion
: Undetected fetal demise

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↓ : Chromosomal disorder
such as
trisomy 21
: Gestational
trophoblastic
disease

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3. CHORIONIC
VILLI SAMPLING
(CVS)
• Involves retrieval and
analysis of chorionic villi for
chromosome or DNA
analysis

• Can be done as early as 5

weeks AOG; commonly
at 8-10 weeks AOG
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❖ With this technique, the chorion
cells are located by ultrasound.
❖ A thin catheter is inserted vaginally
or biopsy(needle is inserted
abdominally) and a number of
chorionic cells is removed.

❖ Chorionic villus sampling can

reveal whether a baby has a
chromosomal condition, such as
Down syndrome.

❖ Chorionic villus sampling can also

be used to test for other genetic
conditions, such as cystic fibrosis

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 Disadvantages of cvs:
1. At risk for excessive
bleeding, leading to
pregnancy loss
2. Limb reduction syndrome
2. Not all genetic
abnormalities can be
detected by CVS (eg.
extent of spinal cord
abnormalities)
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 Nursing interventions:
1. Inform of the risks of the
diagnostic test
2. Secure consent
3. Instruct mother to drink
water prior to procedure
4. Proper positioning for the
procedure; skin prep

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5. Post-CVS, instruct mother to
report:
– Chills or fever
– Uterine contractions or
bleeding

6. Administer Rh immune
globulin (RhoGAM) with Rh-
negative woman after the
procedure
7. Rest at home for 1 day post-
CVS
8. Sexual restriction for a few
days
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4. AMNIOCENTESIS
❖Withdrawal of amniotic fluid (20 mL)
through the abdominal wall for
analysis at 14th-16th week AOG

❖ A needle is inserted abdominally

and fluid aspirated.

❖Some disorders such as Tay-

Sachs disease can be identified
by the presence of a specific
enzymes in the amniotic fluid.

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 Nursing interventions:
1. Secure consent
2. Proper positioning for
the procedure; skin
prep
3.If >20 weeks AOG, ask
patient to void.
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3. Observe for 30 minutes
and monitor FHR and
labor contractions,
bleeding, leakage of
Amniotic fluid post
amniocentesis.
4. Administer Rh immune
globulin (RhoGAM) with
Rh-negative woman
after the procedure
5. Avoid strenuous exercises
for 1-2 days
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5. PERCUTANEOUS UMBILICAL
BLOOD SAMPLING (PUBS)
❖ Also called as “CORDOCENTESIS”
❖ Diagnostic genetic test that
examines blood from the
fetalumbilical cord to detect fetal
abnormalities.
❖ Aspiration of blood from the fetal
umbilical cord [commonly the vein] at
about 17 weeks AOG using an
amniocentesis technique
❖ Nursing interventions same as
amniocentesis

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6. FETAL
IMAGING
• Ex. CT scan, MRI,
UTZ
• Used to assess for
general size and
structural disorder
of the internal
organs, spine, and
limbs
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7. FETOSCOPY
• Insertion of 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 a sonography
finding, to remove skin cell for
DNA analysis, or to perform
surgery for a congenital
disorder such as a stenosed
urethra
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 1. Assess for heritable
disorders to identify the
problem
• Health status of each family
members; abnormal
reproductive outcomes; history
of maternal disorders (DM,
PKU, cystic fibrosis); drug
exposure; and illness.
• Advanced maternal and
paternal age
• Ethnic origin

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 2. If a woman has had
several miscarriages, the
couple's chromosomes
should be analyzed before
they try to have another
baby. If abnormalities are
identified, the couple may
choose to have prenatal
diagnostic testing early in
the next pregnancy

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3. Discuss options for
diagnostic tests that
could help determine
if a person is at risk
for passing an
inherited disorder on
to children or is
susceptible to a
particular genetic
disease
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4. Infertile couples may
pursue genetic
counseling to learn
whether a genetic
condition may be
responsible for their
reproductive difficulties

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 5. Prevent fetal exposure
• Immunization before pregnancy
(ex. MMR) or counsel the mother to
avoid situations that might
jeopardize her health to infectious
diseases
• Eliminate use of non-therapeutic
drugs and substances such as
alcohol
• Non-urgent radiologic procedures
may be done during the first two
weeks after the menstrual period
begins, before ovulation occurs.
For urgent procedures, the lower
abdomen should be shielded with a
lead apron if possible
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6.Chromosomal analys
is is performed on
fetal cells, usually
when the mother is
over age 35 and
therefore most at risk
for bearing a child
with chromosomal
abnormalities
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 7. Manipulate the fetal
environment
• All women of
childbearing age
should take at least
400 mcg of folic acid
daily before conception
because this has been
found to reduce the
incidence of Spina
Bifida and Other
Neural Tube Defects.
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