PROREATION AND GENETIC DISORDER cognitive characteristics of people.

Composed of segments of DNA

PROCREATIVE HEALTH/REPRODUCTIVE
HEALTH:
Procreation:
 the production of offspring;
reproduction.
 is the physical act of joining a sperm
and an egg together to create another
biological being.
 With procreation, the link between the
parent and child is direct in that the
child has genetic make-up based on
both parents' biological contributions
What is reproductive health?
Reproductive health therefore implies that
people are able to have a responsible,
satisfying and safe sex life and that they
have the capability to reproduce and the
freedom to decide if, when and how to do
so.
GENETIC DISORDER:
GENOTYPE VS. PHENOTYPE:
 Inherited or genetic disorders are
disorders that can be passed from
one generation to the next. They
result from some disorder in gene or
chromosome structure and occur in
5% to 6% of newborns.
 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 the physical and
(deoxyribonucleic acid), they are woven
into strands in the nucleus of all body
cells to form chromosomes.
 In humans, each cell, with the exception
of the sperm and ovum, contains 46
chromosomes (22 pair 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
the sperm cell, there is a like
chromosome of similar size and shape
and function (autosome, or homologous
chromosome) in the ovum.
 Genotype is the combination of
alleles an organism inherits from its
parents (genes)
 Phenotype is the organisms
appearance (physical)
A person genome is the complete set of
genes present (about 50,000 to 100,000). A
normal genome is abbreviated as 46XX or
46XY (designation of the total number of
chromosomes plus a graphic description of
the sex chromosomes present).
MENDELIAN INHERITANCE: DOMINANT
AND RECESSIVE PATTERNS
 The principles of genetic
inheritance were discovered and
described by Gregor Mendel, an
 Austrian naturalist, in the 1800s and
are known as mendelian laws.
 A person who has two like genes for
a trait—two healthy genes, for
example (one from the mother and
one from the father)—on two like
chromosomes is said to be
homozygous for that trait.
 If the genes differ (a healthy gene
from the mother and an unhealthy
gene from the father, or vice versa),
the person is said to be
heterozygous for that trait.
DOMINANT AND RECESSIVE:
 Dominant – the trait we see
(expressed with capital letter, A)
 Recessive – trait that is masked
(expressed with lower case, a)
INHERITANCE OF DISEASE:
1. Autosomal Dominant Disorders
 With an autosomal dominant
condition, either a person has
two unhealthy genes (is
homozygous dominant) or is
heterozygous, with the gene
causing the disease stronger
than the corresponding healthy
recessive gene for the same
trait.
AUTOSOMAL DOMINANT DISORDERS:
 With an autosomal dominant
condition, either a person has two
unhealthy genes (is homozygous
dominant) or is heterozygous, with
the gene causing the disease
stronger than the corresponding
healthy recessive gene for the
same trait.
In assessing family genograms (maps of family
relationships) for the incidence of inherited
disorders, a number of common findings are
usually discovered when a dominantly inherited
pattern is present in a family:
1. One of the parents of a child with the
disorder also will have the disorder (a
vertical transmission picture).
2. The sex of the affected individual is
unimportant in terms of inheritance.
3. There is usually a history of the disorder
in other family members.
EXAMPLE DISEASES:
 Huntington disease
 Facioscapulohumeral muscular
dystrophy
 Marfan syndrome
 Breast and breast/ovarian cancer
syndrome (BRCA1 or BRCA2 gene)
AUTOSOMAL RECESSIVE INHERITANCE:
  Such diseases do not occur unless two
genes for the disease are present (i.e., a
homozygous recessive pattern).
 If a person with cystic fibrosis
(homozygous recessive) should choose
a sexual partner without the trait, none
of their children would have the
disorder, but all would be carriers of a
recessive gene for the disorder (see Fig.
7.4C).
 If a person with cystic fibrosis mated
with a person with an unexpressed
gene for the disease, there would be a
50% chance that a child would have the
disorder (homozygous) and a 50%
chance that he or she would be
heterozygous for the disorder (see Fig.
7.4D).
When family genograms are assessed for the
incidence of inherited disease, situations
commonly discovered when a recessively
inherited disease is present in the family
include:
 Both parents of a child with the
disorder are clinically free of the
disorder.
 The sex of the affected individual is
unimportant in terms of inheritance.
 The family history for the disorder is
negative—that is, no one can identify
anyone else who had it (a horizontal
transmission pattern).
 A known common ancestor between
the parents sometimes exists. This
explains how both male and female
came to possess a like gene for the
disorder.
EXAMPLE GENESIS:
• cystic fibrosis
• adrenogenital syndrome
• albinism
• Tay-Sachs disease
• galactosemia
• phenylketonuria
• limb-girdle muscular dystrophy
• Rh factor incompatibility
X LINKED DOMINANT INHERITANCE:
 Some genes for disorders are located
on, and therefore transmitted only by,
the female sex chromosome (the X
chromosome).
 An example of a disease in this group is
Alport’s syndrome, a progressive kidney
failure disorder.
Family characteristics seen with this type of
inheritance usually include:
1. All individuals with the gene are
affected (the gene is dominant).
2. All female children of affected men are
affected; all male children of affected
men are unaffected.
3. It appears in every generation.
4. All children of homozygous affected
women are affected. Fifty percent of
the children of heterozygous affected
women are affected
X LINKED RECESSIVE INHERITANCE:
 The majority of X-linked inherited
disorders are not dominant, but
recessive. When the inheritance of
a recessive gene comes from both
parents (homozygous recessive) it
appears to be incompatible with
life.
 Therefore, females who inherit the
affected gene will be heterozygous,
and, because a normal gene is also
present, the expression of the
disease will be blocked.
 On the other hand, because males
have only one X chromosome, the
disease will be manifested in any
male children who receive the
affected gene from their mother.
 Such a pattern is shown in Figure 7.6B,
in which the mother has the affected
gene on one of her X chromosomes and
the father is disease-free. When this
occurs, the chances are 50% that a male
child will manifest the disease and 50%
that a female child will carry the disease
gene.
 If the father has the disease and
chooses a sexual partner who is free of
the disease gene, the chances are 100%
that a daughter will have the sex linked
recessive gene, but there is no chance
that a son will have the disease (see Fig.
7.6C)
Example of diseases:
• Hemophilia A and Christmas disease (blood-
factor deficiencies)
• color blindness
• Duchenne (pseudohypertrophic) muscular
dystrophy
• fragile X syndrome (a cognitive challenge
syndrome)
When X-linked recessive inheritance is present
in a family, a family genogram will reveal:
1. Only males in the family will have the
disorder.
2. A history of girls dying at birth for unknown
reasons often exists (females who had the
affected gene on both X chromosomes).
3. Sons of an affected man are unaffected.
4. The parents of affected children do not have
the disorder.
MULTIFUNCTIONAL (POLYGENIC)
INHERITANCE:
 Many childhood disorders such as heart
disease, diabetes, pyloric stenosis, cleft
lip and palate, neural tube disorders,
hypertension, and mental illness tend
to have a higher-than usual incidence in
some families. They appear to occur
from multiple gene combinations
possibly combined with environmental
factors.
 Diseases caused by multiple factors this
way do not follow Mendelian laws
because more than a single gene or HLA
is involved. It may be more difficult for
parents to understand why these
disorders occur because their incidence
is so unpredictable. 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.
CHROMOSOMAL ABNORMALITIES (CYTOGENIC
DISORDERS):
 In some instances of genetic disease,
the abnormality occurs not because of
dominant or recessive gene patterns
but through a fault in the number or
structure of chromosomes which results
in missing or distorted genes.
TRANSLOCATION ABNORMALITIES:
NONDISJUNCTION ABNORMALITIES:
 Meiosis is the type of cell division in
which the number of chromosomes in
the cell is reduced to the haploid (half)
number for reproduction (i.e., 23 rather
than 46 chromosomes).
 Chromosomal abnormalities occur if the
division is uneven (nondisjunction). The
result may be that one new sperm cell
or ovum has 24 chromosomes and the
other has only 22
MOSAICISM:
• Down syndrome (trisomy 21) is an example of
a disease in which the individual has 47
chromosomes. There are three rather than two
copies of chromosome 21.
• Other examples of cell nondisjunction include
trisomy 13 (Fig. 7.11) and trisomy 18
(cognitively challenged syndromes).
DELETION ABNORMALITIES:
 Deletion abnormalities are a form of
chromosome disorder in which part of a
chromosome breaks during cell division,
causing the affected person to have the
normal number of chromosomes plus
or minus an extra portion of a
chromosome, such as 45.75
chromosomes or 47.5.
 For example, in cri-du-chat syndrome,
one portion of chromosome 5 is
missing.
 Translocation abnormalities are
perplexing situations in which a child
gains an additional chromosome
through another route. A form of Down
syndrome occurs as an example of this.
In this instance, one parent of the child
has the correct number of
chromosomes (46), but chromosome 21
is misplaced; it is abnormally attached
to another chromosome, such as
chromosome 14 or 15.
 If, during meiosis, this abnormal
chromosome 14 (carrying the extra 21
chromosome) and a normal
chromosome 21 from the other parent
are both included in one sperm or
ovum, the resulting child will have a
total of 47 chromosomes because of
the extra number 21. Such a child is said
to have an unbalanced translocation
syndrome
 Mosaicism is an abnormal condition
that is present when the nondisjunction
disorder occurs after fertilization of the
ovum, as the structure begins mitotic
(daughter-cell) division. If this occurs,
different cells in the body will have
different chromosome counts. The
 extent of the disorder depends on the
proportion of tissue with normal
chromosome structure to tissue with
abnormal chromosome constitution.
 The occurrence of such a phenomenon
at this stage of development suggests
that a teratogenic (harmful to the fetus)
condition, such as x-ray or drug
exposure, existed at that point to
disturb normal cell division.
ISOCHROMOSOMES:
 If a chromosome accidentally divides
not by a vertical separation but by a
horizontal one, a new chromosome
with mismatched long and short arms
can result.
 It has much the same effect as a
translocation abnormality when an
entire extra chromosome exists. Some
instances of Turner syndrome (45XO)
may occur because of isochromosome
formation
DIAGNOSTIC TESTING:
 Before pregnancy, karyotyping of both
parents and an already affected child
provides a picture of the chromosome
pattern that can be used to predict
occurrences in future children. Once a
woman is pregnant, several other tests
may be performed to help in the
prenatal diagnosis of a genetic disorder.
These include maternal serum alpha-
fetoprotein (MSAFP), chronic villi
sampling (CVS), amniocentesis,
percutaneous umbilical blood sampling
(PUBS), ultrasound, and fetoscopy
KARYOTYPING:
 For karyotyping, a sample of peripheral
venous blood or a scraping of cells from
the buccal membrane is taken. Cells are
allowed to grow until they reach
metaphase, the most easily observed
phase. Cells are then stained, placed
under a microscope, and photographed.
Chromosomes are identified according
to size, shape, and stain; cut from the
photograph, and arranged. Any
additional, lacking, or abnormal
chromosomes can be visualized by this
method.
 A newer method of staining, fluorescent
in situ hybridization (FISH), allows
karyotyping to be done immediately,
rather than waiting for the cells to
reach metaphase. This makes it possible
for a report to be obtained in only 1
day.
MATERNAL SERUM SCREENING:
 Alpha-fetoprotein (AFP) is a
glycoprotein produced by the fetal liver
that reaches a peak in maternal serum
between the 13th and 32nd week of
pregnancy T
 The level is elevated with fetal spinal
cord disease (more than twice the value
of the mean for that gestational age)
and is decreased in a fetal chromosomal
disorder such as trisomy 21.
 Most pregnant women have an MSAFP
test done routinely at the 15th week of
pregnancy. If the result is abnormal,
amniotic fluid is then assessed.
 Unfortunately, the MSAFP test has a
false-positive rate of about 30% if the
date of conception is not well
documented.
AMNIOCENTESIS:
CHRORIONIC VILLI SAMPLING:
 CVS is a diagnostic technique that
involves the retrieval and analysis of
chorionic villi from the growing placenta
for chromosome or DNA analysis
 The test is highly accurate and yields no
more false-positive results than does
amniocentesis. Although this procedure
may be done as early as week 5 of
pregnancy, it is more commonly done at
8 to 10 weeks.
 With this technique, the chorion cells
are located by ultrasound. A thin
catheter is then inserted vaginally, or a
biopsy needle is inserted abdominally
or intravaginally, and a number of
chorionic cells are removed for analysis
 CVS carries a small risk (less than 1%) of
causing excessive bleeding, leading to
pregnancy loss. There have been some
instances of children being born with
missing limbs after the procedure (limb
reduction syndrome). This has occurred
with a high enough frequency that
women need to be well informed of
these risks beforehand.
 After CVS, instruct a woman to report
chills or fever suggestive of infection or
symptoms of threatened miscarriage
(uterine contractions or vaginal
bleeding). Women with an Rh-negative
blood type need Rh immune globulin
administration after the procedure to
guard against isoimmunization in the
fetus.
 The cells removed in CVS are
karyotyped or submitted for DNA
analysis to reveal whether the fetus has
a genetic disorder. Because chorionic
villi cells are rapidly dividing, results are
available quickly, perhaps as soon as
the next day.
 Amniocentesis is the withdrawal of
amniotic fluid through the abdominal
wall for analysis at the 14th to 16th
week of pregnancy
 Because amniotic fluid has reached
about 200 mL at this point, enough fluid
can be withdrawn for karyotyping of
skin cells found in the fluid as well as an
analysis of AFP or acetylcholinesterase
 For the procedure, a pocket of amniotic
fluid is located by ultrasound. Then a
needle is inserted transabdominally,
and about 20 mL of fluid is aspirated.
Skin cells in the fluid are karyotyped for
chromosomal number and structure.
The level of AFP is analyzed. Some
disorders, such as Tay-Sachs disease,
can be identified by the lack of a
specific enzyme, such as
hexosaminidase A, in amniotic fluid.
 Amniocentesis has the advantage over
CVS of carrying only a 0.5% risk of
spontaneous miscarriage.
Unfortunately, it usually is not done
until the 14th to 16th week of
pregnancy. This may prove to be a
difficult time because, by this date, a
woman is beginning to accept her
pregnancy and bond with the fetus.
 Women with an Rh-negative blood type
need Rh immune globulin
administration after the procedure to
protect against isoimmunization in the
fetus.
 All women need to be observed for
about 30 minutes after the procedure
to be certain that labor contractions are
not beginning and that the fetal heart
rate remains within normal limits.
PERCUTANEOUS UMBILICAL BLOOD
SAMPLING:
 PUBS, or cordocentesis, is the removal
of blood from the fetal umbilical cord at
about 17 weeks using an amniocentesis
technique
 This allows analysis of blood
components as well as more rapid
karyotyping than is possible when only
skin cells are removed.
FETAL IMAGING:
 Magnetic resonance imaging (MRI) and
ultrasound are diagnostic tools used to
assess a fetus for general size and
structural disorders of the internal
organs, spine, and limbs. Because some
genetic disorders are associated with
physical appearance, both of these
methods may be helpful
FETESCOPY:
 Fetoscopy is the 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.
 It can be used to confirm an ultrasound
finding, to remove skin cells for DNA
analysis, or to perform surgery for a
congenital disorder such as a stenosed
urethra.
PREIMPLANTATION DIAGNOSIS:
 Preimplantation diagnosis is possible for
in vitro fertilization procedures. It may
be possible in the future for a naturally
fertilized ovum to be removed from the
uterus by lavage before implantation
and studied for DNA analysis this same
way.
 The ovum would then be reinserted or
not, depending on the findings and the
parents’ wishes. This would provide
genetic information extremely early in a
pregnancy.
NURSING RESPONSIBILITIES:
Nurses play important roles in assessing for
signs and symptoms of genetic disorders, in
offering support to individuals who seek genetic
counseling, and in helping with reproductive
genetic testing procedures by such actions as:
 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 the wait for
test results
 Assisting couples in values clarification,
planning, and decision making based on
test results
ASSESSMENT FOR GENETIC DISORDER:
History
 obtain information and document
diseases in family members for a
minimum of three generations
 Remember to include half brothers and
sisters or anyone related in any way as
family. Document the mother’s age
because some disorders increase in
incidence with age.
 Have them ask specifically for instances
of spontaneous miscarriage or children
in the family who died at birth. In many
instances, these children died of
unknown chromosomal disorders or
were miscarried because of one of the
70 or more known chromosomal
disorders that are inconsistent with life
PHYSICAL ASSESSMENT:
 Because genetic disorders often
occur in varying degrees of
 expression, a careful physical
assessment of any family member
with a disorder, that child’s siblings,
and the couple seeking counseling
is needed.
 During inspection, pay particular
attention to certain body areas,
such as the space between the
eyes; the height, contour, and
shape of ears; the number of
fingers and toes, and the presence
of webbing
 Infants with multiple congenital
anomalies, those born at less than
35 weeks’ gestation, and those
whose parents have had other
children with chromosomal
disorders need extremely close
assessment