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.
o Genetics is the study of heredity and the variation of inherited characteristics
o Cytogenetics is the study of chromosomes by light microscopy and the
method by which chromosomal aberrations are identified.
A. Nature of Inheritance
o Genes are the basic units of heredity that determine both the physical
and cognitive characteristics of people. It is composed of segments of
DNA; they are woven into strands in the nucleus.
o Chromosomes are threadlike structures of nucleic acids and proteins
found in the nucleus of most living cells, carrying genetic information
in the form of genes
o In humans, each cell, except for the sperm and ovum, contains 46
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 the sperm cell, there is a like
chromosome of similar size shape, and function (autosome, or
homologous chromosome) in the ovum. Because genes are always
located at fixed positions on chromosomes, two like genes (alleles) for
every trait are represented in the ovum and sperm on autosomes. The
one chromosome in which this does not occur is the chromosome for
determining gender.
o If the sex chromosomes are both type X (large symmetric) in the zygote
formed from the union of a sperm and ovum, the individual is female. If
one sex chromosome is an X and one a Y (a smaller type), the individual is
a male.
o A person’s phenotype refers to his or her outward appearance or the
expression of genes.
 o A person’s genotype refers to his or her actual gene composition. It is
impossible to predict a person’s genotype from the phenotype or
outward appearance.
o A person’s genome is the complete set of genes present
o A normal genome is abbreviated as 46XX or 46XY.
B. Mendelian Inheritance: Dominant and Recessive Patterns
o The principles of genetic inheritance of disease are the same as those
that govern genetic inheritance of other physical characteristics, such as
eye or hair color. These principles were discovered and described by
Gregor Mendel, an Austrian naturalist, in the 1800s and are known as
Mendelian laws.
o Homozygous traits are two like chromosomes (one from the mother
and one from the father)
o Heterozygous traits occur when the genes differ (a healthy gene from
o the mother and an unhealthy gene from the father, or vice versa)
o Dominant genes are always expressed in preference to the recessive
genes. For example, a gene for brown eyes is dominant over one for
blue eyes which is recessive; a child is born with a gene for brown
eyes and a recessive one for blue eyes will have brown eyes.
o An individual with two homozygous genes for a dominant trait is said to
be homozygous dominant; an individual with two genes for a recessive
trait is homozygous recessive.

1. Autosomal Dominant Disease

o Although more than 3000 autosomal dominant disorders are known,
only a few are commonly seen because the majority of these are not
compatible with life after birth. 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.
 o If a person who is heterozygous for an autosomal dominant trait (the
usual pattern) mates with a person who is free of the trait, as shown in
Figure 1, the chances are even (50%) that a child born to the couple
would have the disorder or would be disease and carrier free (i.e.,
carrying no affected gene for the disorder).
o Two heterozygous people with a dominantly inherited disorder are
unlikely to choose each other as reproductive partners. If they do there
would be only a 25% chance of a child’s being disease and carrier free, a
50% chance that the child would have the disorder as both parents do,
and a 25% chance that a child would be homozygous dominant (i.e., have
two dominant disorder genes), a condition that probably would be
incompatible with life. (See Figure 2)

Figure 2. Autosomal Dominant Inheritance

In assessing family genograms (maps of family relationships) for the incidence of

inherited disorders, several common findings are usually discovered when a dominantly
inherited pattern is present in a family (Fig. 3):
a. One of the parents of a child with the disorder also will have
the disorder (a vertical transmission picture).
b. The sex of the affected individual is unimportant in terms of
inheritance.
c. There is usually a history of the disorder in other family members.
 An example of autosomal dominant disease is Huntington disease. It is a
progressive neurologic disorder characterized by loss of motor control and
intellectual deterioration, symptoms usually manifest at 35-45 y/o.

Figure 3. Family genogram of Autosomal Dominant Inheritance

2. Autosomal Recessive Inheritance

o More than 1500 autosomal recessive disorders have been identified.
Such diseases do not occur unless two genes for the disease are present
(i.e., a homozygous recessive pattern). Examples include cystic fibrosis,
albinism, Tay-Sachs disease, galactosemia, phenylketonuria, Rh
Incompatibility)

An example of autosomal recessive inheritance is shown in Figure 4. Both

parents are disease free of cystic fibrosis, but both are heterozygous in genotype, so
they carry a recessive gene for cystic fibrosis. When this genetic pattern occurs,
a. there is a 25% chance that a child born to a couple will be disease
and carrier free (homozygous dominant for the healthy gene);
b. a 50% chance that the child will be, like the parents, free of
disease but carrying the unexpressed disease gene
(heterozygous);
c. a 25% chance that the child will have the disease (homozygous
recessive).
 Figure 4. Autosomal Recessive Inheritance

o 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 (Fig.5):
a. Both parents of a child with the disorder are clinically free of the disorder.
b. The sex of the affected individual is unimportant in terms of inheritance.
c. 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.

Figure 5. Family genogram: Autosomal Recessive Inheritance

3. X-Linked Dominant Inheritance

Some genes for disorders are located on, and therefore transmitted
only by, the female sex chromosome (the X chromosome). There are
about 300 known disorders associated this way and their transmission is
termed X-linked inheritance. If the affected gene is dominant, only one X
 chromosome with the trait need be present for symptoms of the disorder
to be manifested (Fig. 6).

Figure 6. X-linked Dominant Inheritance

Family characteristics seen with this type of inheritance usually include:

a. All individuals with the gene are affected (the gene is dominant).
b. All female children of affected men are affected; all male children of
affected men are unaffected.
c. It appears in every generation.
d. All children of homozygous affected women are affected. Fifty
percent of the children of heterozygous affected women are
affected (Fig. 7).
An example of a disease in this group is Alport’s syndrome, a progressive kidney failure
disorder.

Figure 7. Family genogram: X-linked Dominant inheritance

4. 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 8, in which the mother has the affected gene on one of her X
chromosomes and the father is disease-free:
 50% that a male child will manifest the disease
 50% that a female child will carry the disease gene.

Figure 8. X-linked Recessive Inheritance

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. 9).

Figure 9. X-linked Recessive Inheritance

When X-linked recessive inheritance is present in a family, a family genogram will

reveal (Fig. 10):
a. Only males in the family will have the disorder.
b. A history of girls dying at birth for unknown reasons often
 exists (females who had the affected gene on both X
chromosomes).
c. Sons of an affected man are unaffected.
d. The parents of affected children do not have the disorder.

Figure 10. Family genogram: X-linked Recessive inheritance

5. Multifactorial (Polygenic) Inheritance

o 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.
o Diseases caused by multiple factors this way do not follow Mendelian
laws because more than a single gene or human lymphocyte antigen
(HLA) is involved. 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.
C. Chromosomal Abnormalities (Cytogenic Disorders)
o 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. When chromosomes are photographed and displayed,
the resulting arrangement is termed a karyotype.
1. Nondisjunction Abnormalities
o 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).
o All sperm and ova undergo a meiosis cell division early in formation.
The cell then divides cleanly, with 23 chromosomes in the first new cell
and 23 chromosomes in the second new cell.

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. If a spermatozoon or
ovum with 24 or 22 chromosomes fuses with a normal spermatozoon
or ovum, the zygote (sperm and ovum combined) will have either 47 or
45 chromosomes, not the normal 46.
The following are the chromosomal abnormalities because of nondisjunction.
a. Down Syndrome / Trisomy 21 syndrome (47XY21+ OR 47XX21+)
 Trisomy 21, the most frequently occurring chromosomal disorder,
occurs in about 1 in 800 pregnancies. In women who are older than 35
years of age, the incidence is as 1 in 100 live births. The physical
features of children with Down syndrome are:
 Broad and flat nose
 Epicanthal fold (eyelids have an extra fold of tissue at the inner
canthus
 Slant palpebral fissure
 Brushfield spots (white specks on the iris of the eyes)
 Protruding tongue and small oral cavity
 The back of the head is flat, the neck is short, and an extra
pad of fat at the base of the head causes the skin to be so
loose it can be lifted easily and so thin it can be revealed
on a fetal sonogram.
 Low set of ears
 Poor muscle tone or rag doll appearance (toe can touch the
nose)
  Short and thick fingers, little finger curved inward
 Wide space between the first and second toes and
between first and second fingers
 Simian line (single crease in the palm)
 Cognitively challenged from an IQ of 50 to 70 or less than 20
 Small head size
 Congenital heart disease: atrioventricular defect
 Stenosis or atresia of the duodenum
 Strabismus and cataract
 Altered immune function: prone to upper respiratory tract
infection
 Tends to develop acute lymphocytic leukemia
 Life span is limited to 50 to 60 years (aging seems to occur
faster than usual)
 Management of children with trisomy 21
 Early educational and play programs so they can develop
to their full capacity.
 Good handwashing since they are prone to infection.
 Feed slowly. The enlarged tongue may interfere with
swallowing and cause choking
 Physical examination at birth to enable the detection of
the genetic disorder and the initiation of parental
counseling, support, and future planning.
b. Patau syndrome / Trisomy 13 syndromes (47XY13+ OR 47XX13+)
 In trisomy 13, the child has an extra chromosome 13 and is
severely cognitively challenged. The incidence of the
syndrome is low, approximately 0.45 per 1,000 births.
Common findings are:
 Midline body disorders such as cleft lip and palate
 Heart disorders: ventricular septal defects
  Abnormal genitalia
 Microcephaly
 Microphthalmos (small eyes) or absent
 Low-set ears
 Supernumerary digits (polydactyly)
 Most children do not survive beyond early childhood
c. Edwards syndrome / Trisomy 18 syndrome (47XY18+ OR 47XX18+
 Children with trisomy 18 syndrome have three copies of chromosome
18. The incidence is approximately 0.23 per 1,000 live births. Their
characteristics are:
 Cognitively challenged
 Small for gestational age
 Low set of ears
 Small jaw
 Congenital heart defects
 Mishappen fingers and toes (index finger deviates or
crosses over other fingers)
 Rocker-bottom feet (soles of the feet are often rounded
instead of flat)
 Most children do not survive beyond infancy.
d. Klinefelter Syndrome (47XXY)
 Children with Klinefelter syndrome are males with an extra X chromosome.
The incidence of the syndrome is 1 per 1,000 live births. Characteristics of
the syndrome may not be noticeable at birth. At puberty, the following are
observed:
 Small testes and produce ineffective sperm
 Gynecomastia (increased breast size)
 An increased risk of male breast cancer
e. Turner syndrome (45XO)
 The child with Turner syndrome (gonadal dysgenesis) has only one
functional X chromosome. The incidence is approximately 1 per 10,000 live
births. The disorder can be identified during pregnancy because of the extra
skin at the sides of the neck. Their other characteristics are:
 Gonadal dysgenesis
  Only one functional ovary
 sterile
 Secondary sex characteristics do not develop at puberty
 Edema of the hands and feet
 Coarctation (stricture) of the aorta
 Kidney disorders
 Hairline at the nape is low set
 Webbed and short neck
 Congenital heart defect
 Severely cognitively
challenged Management of a child
with Turner Syndrome
 Human growth hormone
 Estrogen at 13 years old
 To become pregnant IVF with surrogate oocyte transfer

2. Deletion Abnormalities
o 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.
a. Cri-du-chat syndrome (46XY5P-)
- In cri-du-chat syndrome (46XY5q_), one portion of
chromosome 5 is missing.
 Abnormal cry (sound of a cat than a human)
 Small head
 Wide-set eyes
 Downward slant palpebral fissure of the eye
 Recessed mandible
  Severely cognitively challenge
b. Fragile X Syndrome (46XY23Q-)
- Fragile X syndrome is the most common cause of cognitive
challenges in males. It is an X-linked disorder in which on long
arm of an X chromosome is defective, which results in
inadequate protein synaptic responses. The incidence of the
syndrome is about 1 in 4,000 males. The following are the
characteristics of a boy with Fragile X syndrome:
 Hyperactivity, aggression, or autism
 Reduced intellectual functioning, with marked deficits in
speech and arithmetic
 Large head, long face with high forehead
 Prominent lower jaw
 Large protruding ears
 Obesity
 Hyper extensive joints
 Cardiac disorders
 After puberty: enlarged testicles; fertile and can reproduce
 Carrier females may show evidence of physical and
cognitive characteristics.
- Management
 Stimulants, atypical antipsychotics, serotonin reuptake
inhibitors may improve symptoms of poor
concentrations and impulsivity
3. Translocation Abnormalities
o 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.
o 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.

o The parent’s appearance and functioning are normal because the total
chromosome count is a normal 46. He or she is termed a balanced
translocation carrier.
o If, during meiosis, this abnormal chromosome 14 (carrying the extra 21
chromosomes) 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. The phenotype
(appearance) of the child will be indistinguishable from that of a child
with the form of Down syndrome that occurs from simple
nondisjunction.
4. Mosaicism
o Mosaicism is an abnormal condition that is present when the
nondisjunction disorder occurs after fertilization of the ovum, as
the structure begins mitotic division (in simple nondisjunction,
uneven cell division occurs during meiosis.
o 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.
o Children with Down syndrome who have near-normal intelligence
may have this type of pattern.
o 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.
This genetic pattern in a female with Down syndrome caused by
mosaicism would be abbreviated as 46XX/47XX21_ to show that some
cells contain 46 and some 47 chromosomes.
 5. Isochromosomes
o 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. This is an isochromosome. It has much the same effect as a
translocation abnormality when an entire extra chromosome exists.

o Some instances of Turner syndrome (45XO) may occur because of

isochromosome formation.
D. Genetic Counselling and Testing
It is advantageous for an individual concerned with the possibility of
transmitting a disease to his or her children to ask for genetic counseling
at a preconception health visit for advice on the inheritance of disease
because counseling can serve to:
1. Provide concrete, accurate information about the process of
inheritance and inherited disorders
2. Reassure people who are concerned that their child may inherit a
particular disorder that the disorder will not occur
3. Allow people who are affected by inherited disorders to make
informed choices about future reproduction
4. Allow people to pursue potential interventions that may exist such as fetal
surgery.
5. Allow families to begin preparation for a child with special needs
Couples who are most apt to benefit from a referral for genetic testing or
counseling include:
- A couple who has a child with a congenital disorder or an inborn error of
metabolism. Many congenital disorders occur because of teratogenic
invasion during pregnancy that has gone unrecognized. Learning that the
abnormality occurred by chance rather than inheritance is important
because the couple will not have to spend the remainder of their
childbearing years in fear that another child may be born with the disorder
 (although a chance circumstance could occur again). If a definite
teratogenic agent, such as a drug a woman took during pregnancy, can be
identified, the couple can be advised about preventing this occurrence in a
future pregnancy.
- A couple whose close relatives have a child with a genetic
disorder such as a chromosomal disorder or an inborn error of
metabolism.

It is difficult to predict the expected occurrence of many “familial” or

multifactorial disorders. In these instances, counseling should be aimed at
educating the couple about the disorder, treatment available, and the
prognosis or outcome of the disorder. Based on this information, the
couple can make an informed reproductive choice about children.
- Any individual who is a known carrier of chromosomal disorder.
Understanding of his or her own chromosome structure and the process
by which future children could be affected can help such an individual
make an informed choice about reproduction or can alert him or her to
the importance of fetal karyotyping during any future pregnancy
- Any individual who has an inborn error of metabolism or chromosomal
disorder. Any person with a disease should know the inheritance
pattern of the disease and, like those who are balanced translocation
carriers, should be aware if prenatal diagnosis is possible for his or her
particular disorder.
- A consanguineous (closely related) couple. The more closely related are
two people, the more genes they have in common, so the more likely it is
that a recessively inherited disease will be expressed. A brother and
sister, for example, have about 50% of their genes in common; first
cousins have about 12% of their genes in common.
- Any woman older than 35 years and any man older than 55 years.
This is directly related to the association between advanced parental age and
 the occurrence of Down syndrome.
- Couples of ethnic backgrounds in which specific illnesses are known to
occur. Mediterranean people, for example, have a high incidence of
thalassemia, a blood disorder; those with a Chinese ancestry have a
high incidence of glucose-6- phosphate dehydrogenase (G6PD)
deficiency, a blood disorder
where destruction of red cells can occur
I. Nursing Process for Genetic Assessment and Counseling
A. Assessment for Genetic Disorders
Genetic assessment begins with a careful study of the pattern of inheritance in a
family. A history, physical examination of family members, and laboratory analysis,
such as karyotyping or DNA analysis, are performed to define the extent of the
problem and the chance of inheritance.
1. History
- Diseases in family members for a minimum of three generations
(including half brother and sisters or anyone related in any way as
family)
- Document whether the parents are consanguineous or related to each other
- Include the family’s ethnic background
- Obtain as much as information by letting the couple describe the
appearance or activities of the affected individual or asking
permission to obtain health records
- Obtain an extensive prenatal history of any affected person whether
environmental conditions could account for the condition.
- Draw a family genogram to identify the possibility of a chromosomal
disorder occurring in a particular couple’s children and identify other
family members who might benefit from genetic counseling.
2. 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.
- Dermatoglyphics (the study of surface markings of the skin) can also be
helpful.
- abnormal fingerprints or palmar creases
- abnormal hair whorls or coloring of hair can also be present.
Careful inspection of newborns is often sufficient to identify a child with a
potential chromosomal disorder. 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.
3. Screening and Diagnostic Testing
1. Many diagnostic tests are available to provide important clues about possible
disorders. Before pregnancy, DNA analysis or karyotyping of both parents and
an already affected child provides a picture of the family’s genetic pattern
and can be used for prediction in future children. Once a woman is pregnant,
several other tests may be performed to help in the prenatal diagnosis of
genetic disorders (Table 3 and Table 4). During the first trimester, women are
offered a routine sonogram screening (a nuchal translucency scan) and an
analysis of maternal serum levels of alpha-fetoprotein (MSAFP), pregnancy-
associated plasma protein A (PAPP-A), and free beta hCG to evaluate for
chromosomal disorders in the fetus. Additionally, women over the age of 35
years may be offered a more accurate noninvasive blood test, circulating cell-
free DNA (cfDNA) testing, to screen for chromosomal disorders. The chorionic
 villi sampling and amniocentesis are diagnostic tests that assess the
karyotype when fetal chromosomes are photographed and displayed, which
can provide a definite answer about the presences or absences of disorders.
Deciding to terminate a pregnancy based on a laboratory finding is rarely easy. If
a couple decides to terminate pregnancy, they need support for their decision to
end the pregnancy. If they decide not to terminate the pregnancy, they may
need support during the remainder of the pregnancy and in the days following
birth.

a. 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, 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. Fetal skin cells
can be obtained by amniocentesis or CVS. A few fetal cells circulate in the
maternal bloodstream, most noticeably trophoblasts, lymphocytes, and
granulocytes.
They are present but few during the first and second trimesters but
plentiful during the third trimester. Such cells can be cultured and used for
genetic testing for such disorders as trisomies.
b. Chorionic 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 several
chorionic cells are removed for analysis (Fig. 11). 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 a 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. If a twin or multiple
pregnancy is present, with two or more separate placentas, cells should be
removed separately from each placenta. Because fraternal twins are
derived from separate ova, one twin could have a chromosomal
abnormality while the other does not. Not all inherited diseases can be
detected by CVS. Be certain that parents understand that only those
disorders involving abnormal chromosomes or nondisjunction, and those
whose specific gene location is known, can be identified by CVS. The test is
not apt to reveal the extent of spinal cord abnormalities, for example.
 Fig. 11 Chorionic villi sampling. Since the villi arise from
trophoblast cells, their chromosome structure is the same
as in the fetus.

c. Amniocentesis.
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 the karyotyping of skin cells found in the fluid as well as an
analysis of AFP or acetylcholinesterase. If no acetylcholinesterase, a
breakdown product of blood, is found in the specimen, it confirms that an
elevated AFP level is not a false-positive reading caused by blood in the
fluid. For the procedure, a pocket of amniotic fluid is located by
ultrasound.
Then a needle is inserted transabdominal, 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. In addition, termination of pregnancy during the
second trimester is more difficult than during a first trimester. Support
women while they wait for test results and to make a decision about the
pregnancy. Women with a 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 limit.

Table 3. Genetic Disorder Screening and Diagnostic Tests

Test Type Timing Process Risks Results
Preimplantation Day 3 or Cell sample Invasive to Only 9-11of
diagnosis day 5 obtained from emb1yo, risk chromosomes
emb1yo day 3 or day 5 of can be
emb1yo before destruction evaluated
implantation in of embryo from sample.
mother during in
vitro fertilization
process
nuchal 11-14 Ultrasound to Noninvasive, Screening test
translucency weeks assess thickness ultrasound forDown
at feh1s's neck, and maternal syndrome,
maternal blood blood draw trisomy 18
draw and 13
cfD A 11+ weeks, Maternal blood Noninvasive, Screening test
can be draw, fetal cell maternal for abnormal
done as fragments in blood draw amounts of
early as 7 maternal blood chromosomes
weeks are assessed

an
d
mi
cro
 del
eti
ons
in
fet
al
D
N
A
Chorionic villi 10-12 Biopsy of placenta Invasive, risk
Diagnostic test sampling weeks
of for karyotype
1111scainage
Maternal 15-20 Maternal blood Noninvasive,
Screening test quadruple weeks
draw maternal for Down marker
screen blood draw
syndrome,
trisomy 18
and 13
Amniocentesis 15-18 Collection of Invasive, risk
Diagnostic for weeks amniotic fluid
of fetal
containing fetal 1111sca1nage
show
through maternal common
abdomen chromosomal
disorders that
can be diagnosed
through amniocentesis.
Table 4. Common Genetic Disorders that can be detected by maternal serum, amniocentesis, or
chorionic villus sampling
 d. Levels of four substances in pregnant women's blood (Quadruple
screening) during 15-18 weeks of pregnancy (Table 5)
1. Alpha-fetoprotein (AFP), a protein made by the developing baby
2. Human chorionic gonadotropin (HCG), by the placenta
3. Estriol, a hormone made by the placenta and the baby's liver
4. Inhibin A, by
the placenta
Table 5

B. Nursing Diagnosis
Typical nursing diagnoses related to the area of genetic disorders include:
1. Decisional conflict related to testing for an untreatable genetic disorder
2. Fear related to the outcome of genetic screening tests
3. Situational low self-esteem related to identified chromosomal abnormality
4. Deficient knowledge related to the inheritance pattern of the family’s inherited
disorder
5. Health-seeking behaviors related to the potential for genetic transmission of
disease
6. Altered sexuality pattern related to fear of conceiving a child with a genetic
disorder
C. Outcome Identification and Planning
Outcome identification and planning for families undergoing genetic assessment
differ according to the types of assessments performed and the results obtained. This
may include determining what information the couple needs to know before testing
can proceed or helping couples arrange for further assessment measures. Be certain
that goals are realistic and consistent with the individual’s or couple’s lifestyle (not all
people want to be totally
informed about family illnesses).
D. Implementation
Parental reactions to the knowledge that their child has a possible genetic
disorder or to the birth of a child with a genetically inherited disorder usually involve
a grief reaction, similar to that experienced by parents whose child has died at birth
(their “perfect” child is gone). Both parents may pass through stages of:
1. Shock and denial (“This cannot be true”),
2. Anger (“It’s not fair that this happened to us”),
3. Bargaining (“If only this would go away”)
4. Acceptance (“It has happened to us and it is all right”).
For some couples, a genetic disorder is diagnosed during the pregnancy; for others, it
may not be discovered until birth, or possibly not even until the child is of school age.
For these parents, the reaction will occur at that later point of diagnosis.

E. Outcome Evaluation

Examples of expected outcomes for a family with a known genetic disorder might be:
1. The couple states they feel capable of coping no matter what the
outcome of genetic testing.
2. The client accurately states the chances of a genetic disorder occurring in her next
child.
3. The couple states they have resolved their feelings of low self-esteem
related to the birth of a child with a genetic disorder.
A couple’s decisions about genetic testing and childbearing can change over time.
For example, a decision made at age 25 not to have children because of a potential
genetic disorder may be difficult to maintain at age 30, as the couple sees many of
their friends with growing families. Be certain that such couples have the telephone
number of a genetic counselor. Urge them to call periodically for news of recent
advances in genetic screening techniques or disease treatments so they can remain
current and well-informed for future planning.