lOMoARcPSD|36539451

Week 1.1 - Framework for Maternal and Child Health Nursing

Focusing on At-Risk, High Risk, and Sick Clients
Maternal and Child Nursing (Pamantasan ng Lungsod ng Maynila)

Studocu is not sponsored or endorsed by any college or university

Downloaded by SHIELOU LOMOD (s.lomod.shielou@cmu.edu.ph)
 lOMoARcPSD|36539451

Bachelor of Science in Nursing

Maternal and Child Nursing II (NRS 2211) – Lecture
Framework for Maternal and Child Health Nursing Focusing on At-Risk, High Risk, and Sick Clients

OUTLINE • 7 out of 10 deaths occur at childbirth or within a

day after delivery.
I. Maternal and Neonatal Mortality • 4 out of 10 deaths are due to complications and
II. High Risk Maternal Condition widespread infections.
III. Genetics and Genetic Counselling • For every death, 40 more women get sick.
IV. Nursing Process of Genetic Assessment and • 8 out of 10 births in rural areas are delivered
Counselling outside a health facility.

MODULE PRETEST Table 1 shows the leading causes of maternal

deaths, majority of which directly results from pregnancy
True/False complications occurring during labor, delivery and
1. Parental reactions to the knowledge their child postpartum. This is followed by hypertension complicating
has a possible genetic disorder usually involves pregnancy, childbirth and puerperium; postpartum
a grief reaction. hemorrhage and pregnancy with abortive outcome (DOH,
2. A person who has two like genes for a trait is 2011). These deaths of women while pregnant or within
said to be heterozygous for that trait. 42 days of termination of pregnancy, irrespective of the
3. Most X-linked inherited disorders are recessive. duration and site of the pregnancy, from any cause related
4. Classical karyotyping may be done using a to or aggravated by the pregnancy or its management but
sample of peripheral venous blood or a buccal not from accidental or incidental causes.
membrane scraping.
5. Fragile X syndrome is the most common cause Table 1. Leading causes, number and percent
of cognitive challenge in females. distribution of maternal deaths, Philippines, 2010.
MAIN CAUSE NUMBER PERCENT
Fill in the Blank 1. Complications 660 38.4
6. __________ is the study of chromosomes by related to
light microscopy. pregnancy
7. __________ refers to a person’s actual gene occurring in
composition. the course of
8. __________ is the study of surface markings of labor,
the skin. delivery, and
9. A(n) __________ is a person’s outward puerperium
appearance or the expression of genes. 2. Hypertension 605 35.2
10. __________ are threadlike structures of nucleic complicating
acids and protein found in the nucleus of most pregnancy,
living cells, carrying genetic information in the childbirth, and
form of genes.) puerperium
3. Postpartum 298 17.3
INTRODUCTION hemorrhage
4. Pregnancy 156 9.1
The health of Filipino mothers and children with abortive
determines the health of the next generation of Filipinos. outcome
This is the primary goal of maternal and child health TOTAL 1,719 100
nursing care stated simply as the promotion and
maintenance of optimal family health to ensure cycles of The risk of maternal death is affected by many factors like:
optimal childbearing and childrearing. • Frequency and spacing of births
• Nutrition level (maternal undernutrition)
MATERNAL AND NEONATAL MORTALITY • Stature and maternal age
• Appropriate medical and midwife support
Significant improvements in maternal and childcare • Access to emergency and intensive treatment if
have been realized in the past four decades. However, were necessary.
pregnancy and childbirth still pose a great risk to Filipino • Lack of management capacity in the health
women of the reproductive age (DOH, 2011). Maternal system.
mortality rate is still high, reported by UNICEF, 2009 at
• No political will and lack of management capacity
160 per 100,000 live births declining slowly to 120 in 2013.
in the health system.
Furthermore, UNICEF also reported the maternal
• Majority of these deaths and disabilities are
situation in the Philippines.
preventable, being mainly due to insufficient care
• 160 women for every 100,000 births die.
during pregnancy and delivery.
• Roughly over 11 women die every day.

This material is for review purposes only. No copyright infringement intended.

Downloaded by SHIELOU LOMOD (s.lomod.shielou@cmu.edu.ph)
 lOMoARcPSD|36539451

Bachelor of Science in Nursing

Maternal and Child Nursing II (NRS 2211) – Lecture
Framework for Maternal and Child Health Nursing Focusing on At-Risk, High Risk, and Sick Clients

• HIV infection is an increasing threat. Mother-to- e. Lack of community support

child transmission of HIV continues to be a major 3. Delay in management of complications
problem, with up to 45 per cent of HIV-infected a. Lack of health care providers
mothers transmitting infection to their children. b. Shortage of supplies
c. Lack of equipment
In 2013, although the infant mortality rate slightly d. Lack of competence of health providers
increased, the number of registered infant deaths slightly e. Weak referral system
decreased by more than one percent, from last year’s
22,254 cases to 21,992 cases. It comprised of 4.1 percent The country is on target in its efforts towards lowering
of the total deaths (531,280) reported during the year. child mortality rate, with infant mortality rate at 25.72 per
This represented a daily average of 60 infant deaths and 1,000 births in 2008 and under-five mortality rate at 32.8
was equivalent to an Infant Mortality Rate (IMR) of 12.5 per 1,000 live births. The Food and Nutrition Research
deaths per thousand live births. The top three leading Institute (FNRI), however, estimates that prevalence of
causes of infant mortality were Pneumonia (3,146; underweight among children less than five years of age.
14.3%); Bacterial sepsis of newborn (2,731; 12.4%); and It is worth noting that man of the leading causes of infant
Respiratory distress of newborn (2,347; 10.7%). The mortality (Figure 1) can be prevented by quality and
listed top ten leading causes of infant mortality in 2013 accessible maternal and newborn, and child services and
were the same with what was recorded in 2012 which only improvement in maternal, infant and child nutrition.
differ in ranks (Figure 1).
DOH’s Essential package of child survival
interventions
1. Skilled attendance during pregnancy, childbirth
and the immediate postpartum
2. Care of the new born
3. Breastfeeding and complementary feeding
4. Micronutrient supplementation
5. Immunization of children and mothers
6. Integrated management of sick children
7. Injury Prevention and Control
8. Birth Spacing

DOH Programs/Interventions for child care

1. Early Essential Newborn Care
2. Infant and Young Child Feeding
3. Newborn Screening
4. Integrated Management of Childhood Illness
Figure 1. Leading causes of infant mortality
5. Immunization Program
These direct causes of maternal and neonatal deaths
HIGH RISK MATERNAL CONDITION
require care by skilled health professionals in well-
equipped facilities. However, more than 59% of births
take place at home, with more than 25% of the births The Department of Health response to the maternal
attended by traditional birth attendants or hilots. This and child situation, it takes into consideration the
contributes to the three delays that lead to maternal and interrelatedness of direct threats to the life of mothers and
neonatal deaths. children. Addressing the risk factors of maternal
1. Delay in identification of complications complication and identifying dangersigns early reduce
a. Failure to recognize dangersigns significantly both maternal and fetal mortality. The
b. Lack of money dangersigns of pregnancy which must be referred
c. Unplanned/unwanted pregnancy immediately are:
d. Lack of companion in going to health 1. High fever
facility 2. Severe vomiting
e. No person to take care of children/home. 3. Severe headache
f. Fear of being ill treated in health facility 4. Pallor and laboured breathing
2. Delay in referral 5. Swelling of hands and feet
a. Distance from a woman’s home to health 6. Foul smelling vaginal discharge
facility/provider 7. Severe abdominal pain, nape pain
b. Lack of/poor condition of roads 8. PROM before expected delivery
c. Lack of emergency transportation 9. Rhythmic cramping
d. Lack of awareness of existing services 10. Burning sensation w/ urination

This material is for review purposes only. No copyright infringement intended.

Downloaded by SHIELOU LOMOD (s.lomod.shielou@cmu.edu.ph)
 lOMoARcPSD|36539451

Bachelor of Science in Nursing

Maternal and Child Nursing II (NRS 2211) – Lecture
Framework for Maternal and Child Health Nursing Focusing on At-Risk, High Risk, and Sick Clients

11. Blurring of vision h. Nutritional status

12. High BP 2. Risks emerging during pregnancy
a. Anemia
Early and regular prenatal care is paramount in the b. Hemorrhage
prevention of complications and immediate management. c. Pregnancy induced hypertension
A pregnancy with a significant chance that the outcome d. Tranverse lie
may be less than ideal for either the mother or fetus or e. Malposition
both. One in which some maternal or fetal factor either f. Suspected CPD
psychosocial or psychological will result in a birth of high g. Negative attitudes toward pregnancy
risk infant or harm to the woman herself. The following are 3. Risks of labor and delivery
the prenatal care risk factor code (DOH, 2011): a. PROM
1. < 15 years of age and 35 years b. Amnionitis
2. <145 cm in height c. Transverse lie
3. Primigravid, Gravida 5 and above d. Prolonged/obstructed labor
4. Pelvic deformities e. Intra-partal bleeding from previa/abruptio
5. Leg deformities 4. Risks of postpartum
6. No prenatal or irregular prenatal care in previous a. Puerperal infection
pregnancies b. Hemorrhage
7. >42 weeks and < 37 weeks AOG c. Sub-involution
8. Pre pregnancy weight less than 80% of IBW d. Postoperative complications
9. Anemia <8 gm hemoglobin e. Thrombophlebitis
10. Weight gain < 4% of pre pregnancy weight per f. Depression
semester
11. Weight gain > 6% of pre pregnancy weight per Assessing the pregnant mother based on the
semester categories will further improve the decision making of the
12. Abnormal presentation care provider in prevention of complications during
13. Multiple fetuses pregnancy, labor, and delivery. Furthermore, fetal death
14. Hypertension and infant morbidity and mortality will be avoided.
15. Dizziness and blurring of vision
16. Convulsion GENETICS AND GENETIC COUNSELLING
17. Albuminuria
18. Vaginal infections Although the number three leading cause of infant
19. Vaginal bleeding mortality is chromosomal abnormalities, limited attention
20. Pitting edema has been given to birth defects and other genetic
21. Heart or renal problem conditions (http://www.doh.gov.ph/mortality). Table 2
22. Tuberculosis describes the prevalence of congenital disorders by
23. Malaria cause in the Philippines. This situation has been
24. Diabetes aggravated by the small number of geneticists and
25. Rubella genetic counselors who can provide genetic diagnosis,
26. Thyroid problems management, and counseling services to patients. The
27. Smoker/alcoholic drinker delivery of medical genetic services thus remains a
28. Mentally incapacitated, socio economic challenge in both private and public sectors.
streamlined
29. Unwanted pregnancy Table 2. Prevalence of congenital disorders by cause
30. Illiterate mother in the Philippines
31. Heavy manual labor CAUSES ESTIMATED
32. Unwed mother PREVALENCE
1. Dominant single- 7
The above prenatal risks can be further categorized gene disorders
as: 2. Recessive single 2.3
1. Pre-existing risk gene disorders
a. Age 3. X-linked 1.3
b. Parity recessive single-
c. Social factors gene disorders
d. Environmental factors 4. Chromosomal 4.2
e. Marital status disorders
f. Pre-existing disease 5. Malformations 63.9
g. Physical stature

This material is for review purposes only. No copyright infringement intended.

Downloaded by SHIELOU LOMOD (s.lomod.shielou@cmu.edu.ph)
 lOMoARcPSD|36539451
Bachelor of Science in Nursing
Maternal and Child Nursing II (NRS 2211) – Lecture
Framework for Maternal and Child Health Nursing Focusing on At-Risk, High Risk, and Sick Clients
Source: Christianson A, Howson CP, Modell B (2006),
March of Dimes (MoD) Global Report on Births Defects,
2006: The Hidden Toll of Dying and Disabled Children.
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 heredity and the variation
of inherited characteristics
• Cytogenetics is the study of chromosomes by
light microscopy and the method by which
chromosomal aberrations are identified.
A. Nature of Inheritance
Nature of Inheritance
• 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.
• 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
• In humans, each cell, except for 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. 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.
• 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.
• A person’s phenotype refers to his or her
outward appearance or the expression of genes.
• 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.
• A person’s genome is the complete set of genes
present.
• A normal genome is abbreviated as 46XX or
46XY.
This material is for review purposes only. No copyright infringement intended.
Downloaded by SHIELOU LOMOD (s.lomod.shielou@cmu.edu.ph)
B. Mendelian Inheritance: Dominant and
Recessive Patterns
Mendelian Inheritance: Dominant and Recessive
Patterns
• 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.
• Homozygous traits are two like chromosomes
(one from the mother and one from the father)
• Heterozygous traits occur when the genes differ
(a healthy gene from the mother and an unhealthy
gene from the father, or vice versa)
• 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.
• 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.
Autosomal Dominant Disease
• 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.
• 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).
• 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 (Figure 2)
 lOMoARcPSD|36539451

Bachelor of Science in Nursing

Maternal and Child Nursing II (NRS 2211) – Lecture
Framework for Maternal and Child Health Nursing Focusing on At-Risk, High Risk, and Sick Clients

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 2. Autosomal Dominant Inheritance

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 (Fig.
3) : Figure 4. Autosomal recessive inheritance
a. One of the parents of a child with the disorder also
will have the disorder (a vertical transmission • When family genograms are assessed for the
picture). incidence of inherited disease, situations
b. The sex of the affected individual is unimportant commonly discovered when a recessively
in terms of inheritance. inherited disease is present in the family include
c. There is usually a history of the disorder in other (Fig.5):
family members. a. Both parents of a child with the disorder are
An example of autosomal dominant disease is clinically free of the disorder.
Huntington disease. It is a progressive neurologic b. The sex of the affected individual is
disorder characterized by loss of motor control and unimportant in terms of inheritance.
intellectual deterioration, symptoms usually manifest at c. The family history for the disorder is
35-45 y/o. 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 3. Family genogram of autosomal dominant

inheritance

Autosomal Recessive Inheritance

More than 1500 autosomal recessive disorders have
been identified. Such diseases do not occur unless two Figure 5. Family genogram: Autosomal recessive
genes for the disease are present (i.e., a homozygous inheritance
recessive pattern). Examples include cystic fibrosis, X-Linked Dominant Inheritance
albinism, Tay-Sachs disease, galactosemia, Some genes for disorders are located on, and
phenylketonuria, Rh Incompatibility) therefore transmitted only by, the female sex

This material is for review purposes only. No copyright infringement intended.

Downloaded by SHIELOU LOMOD (s.lomod.shielou@cmu.edu.ph)
 lOMoARcPSD|36539451

Bachelor of Science in Nursing

Maternal and Child Nursing II (NRS 2211) – Lecture
Framework for Maternal and Child Health Nursing Focusing on At-Risk, High Risk, and Sick Clients

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 forsymptoms of the disorder to be
manifested (Fig. 6).
has the affected gene on one of her X chromosomes and
the father is disease-free:
a. 50% that a male child will manifest the disease
b. 50% that a female child will carry the disease
gene.

Figure 8. X-linked Recessive Inheritance

Figure 6. X-linked dominant inheritance
If the father has the disease and chooses a sexual
Family characteristics seen with this type of partner who is free of the disease gene, the chances are
inheritance usually include: 100% that a daughter will have the sex linked recessive
a. All individuals with the gene are affected (the gene, but there is no chance that a son will have the
gene is dominant). disease (see Fig. 9).
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 Figure 9. X-linked Recessive Inheritance

syndrome, a progressive kidney failure disorder.
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 7. Family genogram: X-linked Dominant

inheritance

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 Figure 10. Family genogram: X-linked Recessive
present, the expression of the disease will be blocked. On inheritance
the other hand, because males have only one X
chromosome, the disease will be manifested in any male Multifactorial (Polygenic) Inheritance
children who receive the affected gene from their mother. • Many childhood disorders such as heart disease,
Such a pattern is shown in Figure 8, in which the mother diabetes, pyloric stenosis, cleft lip and palate,

This material is for review purposes only. No copyright infringement intended.

Downloaded by SHIELOU LOMOD (s.lomod.shielou@cmu.edu.ph)
 lOMoARcPSD|36539451

Bachelor of Science in Nursing

Maternal and Child Nursing II (NRS 2211) – Lecture
Framework for Maternal and Child Health Nursing Focusing on At-Risk, High Risk, and Sick Clients

neural tube disorders, hypertension, and mental • Epicanthal fold (eyelids have extra
illness tend to have a higher-than usual incidence fold of tissue at the inner canthus
in some families. They appear to occur from • Slant palpebral fissure
multiple gene combinations possibly combined • Brushfield spots (white specks on the
with environmental factors. iris of the eyes)
• Diseases caused by multiple factors this way do • Protruding tongue and small oral
not follow Mendelian laws because more than a cavity
single gene or human lymphocyte antigen (HLA) • Back of the head is flat, neck is short,
is involved. Their incidence is so unpredictable. A and extra pad of fat the base of the
family history, for instance, may reveal no set head causes the skin to be so loose
pattern. Some of these conditions have a it can be lifted easily and so thin it can
predisposition to occur more frequently in one sex be revealed on a fetal sonogram.
(cleft palate occurs more often in girls than boys), • Low set of ears
but they can occur in eithersex. • Poor muscle tone or rag doll
appearance (toe can touch the nose)
C. Chromosomal Abnormalities (Cytogenic • Short and thick fingers, little finger
Disorders) curved inward
• Wide space between the first and
Chromosomal Abnormalities (Cytogenic Disorders) second toes and between first and
• In some instances of genetic disease, the second fingers
abnormality occurs not because of dominant or • Simian line (single crease in the
recessive gene patterns but through a fault in the palm)
number or structure of chromosomes which
• Cognitively challenged from an IQ of
results in missing or distorted genes. When
50 to 70 or less than 20
chromosomes are photographed and displayed,
• Small head size
the resulting arrangement is termed a karyotype.
• Congenital heart disease:
atrioventricular defect
Nondisjunction Abnormalities
• Stenosis or atresia of the duodenum
• Meiosis is the type of cell division in which the
number of chromosomes in the cell is reduced to • Strabismus and cataract
the haploid (half) number for reproduction (i.e., 23 • Altered immune function: prone to
rather than 46 chromosomes). upper respiratory tract infection
• All sperm and ova undergo a meiosis cell division • Tends to develop acute lymphocytic
early in formation. The cell then divides cleanly, leukemia
with 23 chromosomes in the first new cell and 23 • Life span is limited to 50 to 60 years
chromosomes in the second new cell. (aging seemsto occur faster than
• Chromosomal abnormalities occur if the division usual)
is uneven (nondisjunction). The result may be ii. Management of children with trisomy 21
that one new sperm cell or ovum has 24 • Early educational and play programs
chromosomes and the other has only 22. If a so they can develop to their full
spermatozoon or ovum with 24 or 22 capacity.
chromosomes fuses with a normal spermatozoon • Good handwashing since they are
or ovum, the zygote (sperm and ovum combined) prone to infection.
will have either 47 or 45 chromosomes, not the • Feed slowly. The enlarged tongue
normal 46. may interfere with swallowing and
• The following are the chromosomal abnormalities cause choking
because of nondisjunction. • Physical examination at birth to
a. Down Syndrome / Trisomy 21 syndrome enable the detection of the genetic
(47XY21+ OR 47XX21+) disorder and the initiation of parental
i. Trisomy 21, the most frequently counseling, support and future
occurring chromosomal disorder, occurs planning.
in about 1 in 800 pregnancies. In women b. Patau syndrome / Trisomy 13 syndrome
who are older than 35 years of age, the (47XY13+ OR 47XX13+)
incidence is as 1 in 100 live births. The i. In trisomy 13, the child has an extra
physical features of children with Down chromosome 13 and is severely
syndrome are: cognitively challenged. The incidence of
• Broad and flat nose the syndrome is low, approximately 0.45
per 1,000 births. Common findings are:

This material is for review purposes only. No copyright infringement intended.

Downloaded by SHIELOU LOMOD (s.lomod.shielou@cmu.edu.ph)
 lOMoARcPSD|36539451

Bachelor of Science in Nursing

Maternal and Child Nursing II (NRS 2211) – Lecture
Framework for Maternal and Child Health Nursing Focusing on At-Risk, High Risk, and Sick Clients

• Midline body disorders such as cleft • Secondary sex characteristics do not

lop and palate
• Heart disorders: ventricularseptal
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+)
i. 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)
i. 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)
i. The child with Turnersyndrome (gonadal
dysgenesis) has only one functional X
chromosome. The incidence
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:
• Gonodal dysgenesis
• Only one functional ovaries
• Sterile
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 cognitive challenged
Management of a child with Turner
Syndrome
• Human growth hormone
• Estrogen at 13 years old
• To become pregnant IVF with
surrogate oocyte transfer
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.
a. Cri-du-chatsyndrome (46XY5P-)
i. In cri-du-chat syndrome (46XY5q_), one
portion of chromosome 5 is missing.
• Abnormal cry (sound of a cat than
human)
• Small head
• Wide-set eyes
• Downward slant palpebral fissure of
the eye
• Recessed mandible
• Severely cognitively challenge
b. Fragile X Syndrome (46XY23Q-)
i. Fragile X syndrome is the most common
cause of cognitive challenge 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
is 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

This material is for review purposes only. No copyright infringement intended.

Downloaded by SHIELOU LOMOD (s.lomod.shielou@cmu.edu.ph)
 lOMoARcPSD|36539451
Bachelor of Science in Nursing
Maternal and Child Nursing II (NRS 2211) – Lecture
Framework for Maternal and Child Health Nursing Focusing on At-Risk, High Risk, and Sick Clients
• Carrier females may show evidence
of the physical and cognitive
characteristics.
ii. Management
• Stimulants, atypical antispyschotics,
serotonin reuptake inhibitors may
improve symptoms of poor
concentrations and impulsivity
Translocation Abnormalities
• 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.
• 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.
• 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. 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.
Mosaicism
• 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.
• 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.
• Children with Down syndrome who have near
normal intelligence may have this type of pattern.
• 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.
This material is for review purposes only. No copyright infringement intended.
Downloaded by SHIELOU LOMOD (s.lomod.shielou@cmu.edu.ph)
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. This is an isochromosome. It has
much the same effect as a translocation
abnormality when an entire extra chromosome
exists.
• Some instances of Turnersyndrome (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 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
 lOMoARcPSD|36539451

Bachelor of Science in Nursing

Maternal and Child Nursing II (NRS 2211) – Lecture
Framework for Maternal and Child Health Nursing Focusing on At-Risk, High Risk, and Sick Clients

information, the couple can make an informed • Obtain as much as information by letting
reproductive choice about children. the couple describe the appearance or
• Any individual who is a known carrier of activities of affected individual or asking
chromosomal disorder. Understanding of his or permission to obtain health records
her own chromosome structure and the process • Obtain an extensive prenatal history of
by which future children could be affected can any affected person whether
help such an individual make an informed choice environmental conditions could account
about reproduction or can alert him or her to the for the condition.
importance of fetal karyotyping during any future • Draw a family genogram to identify the
pregnancy. possibility of a chromosomal disorder
• Any individual who has an inborn error of occurring in a particular couple’s children
metabolism or chromosomal disorder. Any and identify other family member who
person with a disease should know the might benefit from genetic counseling.
inheritance pattern of the disease and, like those 2. Physical Assessment
who are balanced translocation carriers, should Because genetic disorders often occur in
be aware if prenatal diagnosis is possible for his varying degrees of expression, a careful physical
or her particular disorder. assessment of any family member with a
• A consanguineous (closely related) couple. The disorder, that child’s siblings, and the couple
more closely related are two people, the more seeking counseling is needed. During inspection,
genes they have in common, so the more likely it pay particular attention to certain body areas,
is that a recessively inherited disease will be such as:
expressed. A brother and sister, for example, • the space between the eyes
have about 50% of their genes in common; first • the height, contour, and shape of ears
cousins have about 12% of their genes in • the number of fingers and toes, and the
common. presence of webbing.
• Any woman older than 35 years and any man • Dermatoglyphics (the study ofsurface
older than 55 years. This is directly related to the markings of the skin) can also be helpful.
association between advanced parental age and • abnormal fingerprints or palmar creases
the occurrence of Down syndrome. • abnormal hair whorls or coloring of hair
• Couples of ethnic backgrounds in which specific can also be present.
illnesses are known to occur. Mediterranean Careful inspection of newborns is often
people, for example, have a high incidence of sufficient to identify a child with a potential
thalassemia, a blood disorder; those with a chromosomal disorder. Infants with multiple
Chinese ancestry have a high incidence of congenital anomalies, those born at less than 35
glucose-6- phosphate dehydrogenase (G6PD) weeks’ gestation, and those whose parents have
deficiency, a blood disorder where destruction of had other children with chromosomal disorders
red cells can occur. need extremely close assessment.
3. Screening and Diagnostic Testing
NURSING PROCESS FOR GENETIC ASSESSMENT • Many diagnostic tests are available to
AND COUNSELLING provide important clues about possible
disorders. Before pregnancy, DNA
A. Assessment for Genetic Disorders analysis or karyotyping of both parents
and an already affected child provides a
Assessment for Genetic Disorders picture of the family’s genetic pattern and
Genetic assessment begins with careful study of the can be used for prediction in future
pattern of inheritance in a family. A history, physical children. Once a woman is pregnant,
examination of family members, and laboratory analysis, several other tests may be performed to
such as karyotyping or DNA analysis, are performed to help in the prenatal diagnosis of genetic
define the extent of the problem and the chance of disorder (Table 3 and Table 4). During
inheritance. first trimester, women are offered a
1. History routine sonogram screening (a nuchal
• Diseases in family members for a translucency scan) and an analysis of
minimum of three generations (include maternal serum levels of alpha
half brother and sisters or anyone related fetoprotein (MSAFP), pregnancy-
in any way as family) associated plasma protein A (PAPP-A),
• Document whether the parents are and free beta hCG to evaluate for
consanguineous or related to each other chromosomal disorders in the fetus.
• Include family’s ethnic back ground Additionally, women over the age of 35

This material is for review purposes only. No copyright infringement intended.

Downloaded by SHIELOU LOMOD (s.lomod.shielou@cmu.edu.ph)
 lOMoARcPSD|36539451

Bachelor of Science in Nursing

Maternal and Child Nursing II (NRS 2211) – Lecture
Framework for Maternal and Child Health Nursing Focusing on At-Risk, High Risk, and Sick Clients

years may be offered a more accurate pregnancy, it is more commonly done at

noninvasive blood test, circulating cell- 8 to 10 weeks. With this technique, the
free DNA (cfDNA) testing, to screen for chorion cells are located by ultrasound. A
chromosomal disorders. The chorionic thin catheter is then inserted vaginally, or
villi sampling and amniocentesis are a biopsy needle is inserted abdominally
diagnostic tests that assess the or intravaginally, and a number of
karyotype when fetal chromosomes are chorionic cells are removed for analysis
photographed and displayed, which can (Fig. 11). CVS carries a small risk (less
provide a definite answer about the than 1%) of causing excessive bleeding,
presences or absences of disorders. leading to pregnancy loss. There have
• Deciding to terminate a pregnancy based been some instances of children being
on a laboratory finding is rarely easy. If a born with missing limbs after the
couple decides to terminate pregnancy, procedure (limb reduction syndrome).
they need support for their decision to This has occurred with a high enough
end the pregnancy. If they decide not to frequency that women need to be well
terminate the pregnancy, they may need informed of these risks beforehand. After
support during the remainder of the CVS, instruct a woman to report chills or
pregnancy and in the days following birth. fever suggestive of infection or
a. Karyotyping symptoms of threatened miscarriage
For karyotyping, a sample of (uterine contractions or vaginal
peripheral venous blood or a scraping of bleeding). Women with an Rh-negative
cells from the buccal membrane is taken. blood type need Rh immune globulin
Cells are allowed to grow until they reach administration after the procedure to
metaphase, the most easily observed guard against isoimmunization in the
phase. Cells are then stained, placed fetus. The cells removed in CVS are
under a microscope, and photographed. karyotyped or submitted for DNA
Chromosomes are identified according to analysis to reveal whether the fetus has
size, shape, and stain; cut from the a genetic disorder. Because chorionic villi
photograph, and arranged. Any cells are rapidly dividing, results are
additional, lacking, or abnormal available quickly, perhaps as soon as the
chromosomes can be visualized by this next day. If a twin or multiple pregnancy
method. is present, with two or more separate
A newer method of staining, FISH, placentas, cells should be removed
allows karyotyping to be done separately from each placenta. Because
immediately, rather than waiting for the fraternal twins are derived from separate
cells to reach metaphase. This makes it ova, one twin could have a chromosomal
possible for a report to be obtained in abnormality while the other does not. Not
only 1 day. Fetal skin cells can be all inherited diseases can be detected by
obtained by amniocentesis or CVS. A few CVS. Be certain that parents understand
fetal cells circulate in the maternal that only those disorders involving
bloodstream, most noticeably abnormal chromosomes or
trophoblasts, lymphocytes, and nondisjunction, and those whose specific
granulocytes. gene location is known, can be identified
They are present but few in number by CVS. The test is not apt to reveal the
during the first and second trimesters but extent of spinal cord abnormalities, for
plentiful during the third trimester. Such example.
cells can be cultured and used for genetic
testing forsuch disorders as the
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

This material is for review purposes only. No copyright infringement intended.

Downloaded by SHIELOU LOMOD (s.lomod.shielou@cmu.edu.ph)
 lOMoARcPSD|36539451

Bachelor of Science in Nursing

Maternal and Child Nursing II (NRS 2211) – Lecture
Framework for Maternal and Child Health Nursing Focusing on At-Risk, High Risk, and Sick Clients

make a decision about the pregnancy.

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 limit.

Table 3. Genetic Disorder Screening and Diagnostic

Tests (on page #)

Table 4. Common Genetic Disorders that can be

detected by maternal serum, amniocentesis, or
chorionic villus sampling.
SYNDROME CHROMOSOMAL CLINICAL
Fig. 11 Chorionic villi sampling. Since the villi arise CHARACTERIST- SIGNS IN
from trophoblast cells, their chromosome structure is ICS CHILD
the same as in the fetus. Down Extra Cognitively
syndrome chromosome 21 challenged,
c. Amniocentesis protruding
Amniocentesis is the withdrawal of tongue,
amniotic fluid through the abdominal wall epicanthal
for analysis at the 14th to 16th week of folds,
pregnancy. Because amniotic fluid has hypotonia
reached about 200 mL at this point, Translocation Translocation of a Same clinical
enough fluid can be withdrawn for Down chromosome, signs as
karyotyping of skin cells found in the fluid syndrome perhaps 21/14 trisomy 21
as well as an analysis of AFP or Trisomy 18 Extra Cognitively
acetylcholinesterase. If no chromosome 18 challenged,
acetylcholinesterase, a breakdown congenital
product of blood, is found in the malformations
specimen, it confirms that an elevated Trisomy 13 Extra Cognitively
AFP level is not a false-positive reading chromosome 13 challenged,
caused by blood in the fluid. For the multiple
procedure, a pocket of amniotic fluid is congenital
located by ultrasound. Then a needle is malformations,
inserted transabdominally, and about 20 eye agenesis
mL of fluid is aspirated. Skin cells in the
Cri-du-chat Deletion of short Cognitively
fluid are karyotyped for chromosomal
syndrome arm of challenged,
number and structure. The level of AFP
chromosome 5 facial structure
is analyzed. Some disorders, such as
anomalies,
Tay-Sachs disease, can be identified by
peculiar catlike
the lack of a specific enzyme, such as
cry
hexosaminidase A, in amniotic fluid.
Fragile x Distortion of the x Cognitively
Amniocentesis has the advantage over
syndrome chromosome challenged
CVS of carrying only a 0.5% risk of
Philadelphia Deletion of one Chronic
spontaneous miscarriage. Unfortunately,
chromosome arm of granulocytic
it usually is not done until the 14th to 16th
chromosome 21 leukemia
week of pregnancy. This may prove to be
a difficult time because, by this date, a Turner Only one X Short stature,
woman is beginning to accept her syndrome chromosome streak ovaries,
pregnancy and bond with the fetus. In present (45XO) infertility,
addition, termination of pregnancy during webbed neck
the second trimester is more difficult than Klinefelter An extra X Small testes,
during a first trimester. Support women syndrome chromosome gynecomastia,
while they wait for test results and to present (48XXY) subfertility

This material is for review purposes only. No copyright infringement intended.

Downloaded by SHIELOU LOMOD (s.lomod.shielou@cmu.edu.ph)
 lOMoARcPSD|36539451

Bachelor of Science in Nursing

Maternal and Child Nursing II (NRS 2211) – Lecture
Framework for Maternal and Child Health Nursing Focusing on At-Risk, High Risk, and Sick Clients

d. Levels of four substances in pregnant D. Implementation

women's blood (Quadruple screening)
during 15-18 weeks of pregnancy Parental reactions to the knowledge that their child
(Table 5) has a possible genetic disorder or to the birth of a child
1. Alpha-fetoprotein (AFP), a protein with a genetically inherited disorder usually involves a
made by the developing baby grief reaction, similar to that experienced by parents
2. Human chorionic gonadotropin whose child has died at birth (their “perfect” child is gone).
(HCG), by the placenta Both parents may pass through stages of:
3. Estriol, a hormone made by the 1. Shock and denial (“This cannot be true”),
placenta and the baby's liver 2. Anger (“It’s not fair that this happened to us”),
4. Inhibin A, by the placenta 3. Bargaining (“If only this would go away”)
4. Acceptance (“It has happened to us and it is all
Table 5. Quadruple Screening Test 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 ofschool
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

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 outcome of genetic screening
tests
3. Situational low self-esteem related to identified
chromosomal abnormality
4. Deficient knowledge related to inheritance pattern
of the family’s inherited disorder
5. Health-seeking behaviors related to 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).
known genetic disorder might be:
1. Couple states they feel capable of coping no
matter what the outcome of genetic testing.
2. Client accurately states the chances of a genetic
disorder occurring in her next child.
3. Couple states they have resolved their feelings of
low self-esteem related to 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.
REFERENCES
Watch the following videos:
1. How to create a Genogram -
https://www.youtube.com/watch?v=bdlunUM3Rd
c
2. Amniocentesis -
https://www.youtube.com/watch?v=bZcGpjyOXt
0
3. Chorionic villisampling -
https://www.youtube.com/watch?v=sxEf_ddmpZ
k
4. Chromosomal abnormalities -
https://www.youtube.com/watch?v=sg7xe8C9D
mQ

This material is for review purposes only. No copyright infringement intended.

Downloaded by SHIELOU LOMOD (s.lomod.shielou@cmu.edu.ph)
 lOMoARcPSD|36539451

Bachelor of Science in Nursing

Maternal and Child Nursing II (NRS 2211) – Lecture
Framework for Maternal and Child Health Nursing Focusing on At-Risk, High Risk, and Sick Clients

Books: Famorca, Z.U., M.A.Nies and M. McEwen. Nursing Care

Flagg, J. (2018). Maternal and child health nursing: Care of the Community: A comprehensive text on
of the childbearing and childbearing family (8thed.). community and public health nursing in the
Philadelphia, PA: WoltersKluwer. Philippines (6th ed.). Singapore, Elsevier.

Table 3. Genetic Disorder Screening and Diagnostic Tests

TEST TYPE TIMING PROCESS RISKS RESULTS
Preimplantation Day 3 or day 5 Cell sample obtained from Invasive to Only 9-11 of
diagnosis embryo day 3 or day 5 embryo prior embryo, risk of chromosomes can be
to implantation in mother destruction of valuated from sample
during in-vitro fertilization embryo
process
Nuchal 11-14 weeks Ultrasound to assess Noninvasive, Screening test for Down
translucency thickness at fetal’s neck, ultrasound and syndrome, trisomy 18 and
maternal blood draw maternal blood 13
draw
cfD A 11+ weeks, can be Maternal blood draw, fetal Noninvasive, Screening test for
done as early as 7 cell fragments in maternal maternal blood abnormal amounts of
weeks blood are assessed draw chromosomes and
microdeletions in fetal
DNA
Chorionic villi 10-12 weeks Biopsy of placenta Invasive, risk of Diagnostic test for
sampling miscarriage karyotype
Maternal 15-20 weeks Maternal blood draw Noninvasive, Screening test for Down
quadruple maternal blood syndrome, trisomy 18 and
marker screen draw 13
Amniocentesis 15-18 weeks Collection of amniotic fluid Invasive, risk of Diagnostic for fetal
containing fetal skin cells miscarriage karyotype, shows
through maternal abdomen common chromosomal
disorders that can be
diagnosed through
amniocentesis
Percutaneous >17 weeks Fetal umbilical blood Invasive, risk of Diagnostic for fetal
umbilical blood sampling through maternal miscarriage karyotype and fetal blood
sampling abdomen diseases
Fetal anatomy 18-22 weeks, ideal Ultrasound of fetal anatomy Noninvasive, Screening test for visual
ultrasound timing ultrasound fetal anomalies (cleft lip,
etc.)
Fetoscopy Second and third Small camera and Invasive, risk of Often used to treat
trimesters instruments passed into the miscarriage disorders like twin-to-twin
amniotic sac to view and transfusion
treat anomalies
Newborn Day 2 - several A blood sample via heel Non-invasive, Screening for genetic
screening weeks after birth prick or blood draw from blood draw from disorders via serum DNA
newborn newborn or other factors

This material is for review purposes only. No copyright infringement intended.

Downloaded by SHIELOU LOMOD (s.lomod.shielou@cmu.edu.ph)