HOLY ANGEL UNIVERSITY

School of Nursing and Allied Medical Sciences

Department of Nursing
NCM 109 – CARE OF MOTHER, CHILD AT RISK OR WITH PROBLEMS (ACUTE AND CHRONIC)
S.Y. 2024-2025 | 2nd Semester | Preliminary Term
Module 1: Framework for Maternal and Child Health Nursing (MCN) focusing on At-Risk / High Risk and Sick
Clients

Description
This module discusses the current situation of maternal and child health in the Philippines and the causes
of the maternal and pediatric mortality, morbidity, and maternal risk assessment. It also includes the basic
principles by which disorders can be inherited and information about the necessary assessments, care, and
guidelines for counseling of families if it is discovered that there is a potential for a genetic disorder in the family.
Such information can influence the health of a childbearing or childrearing family for generations to come.
Learning Outcomes
LO1 Integrate current situation of maternal and child health in the Philippines and concepts of genetic inheritance
in the formulation and application of appropriate nursing care to mothers and children at-risk / high risk to achieve
quality maternal and child health nursing care.
LO3 Assess mothers and children at – risk / high risk /with acute or chronic conditions with the use of specific
methods and tools to address existing health needs.
LO4 Formulate nursing diagnoses to address needs / problems of mothers and children at - risk/high risk/with
acute or chronic conditions.
LO5 Implement safe and quality nursing interventions addressing health needs/ problems of mothers and children
at - risk / high risk/s with acute or chronic conditions.
LO7 Evaluate with mothers and children the at - risk/high risk/with acute or chronic conditions the health
outcomes of nurse-client relationship.

Module Outline

I. Maternal and Neonatal Mortality

II. High Risk Maternal Condition
III. Genetics and Genetic Counselling
IV. Nursing process of Genetic Assessment and Counselling

Module

The health of Filipino mothers and children determines the health of the next generation of Filipinos. This is the
primary goal of maternal and child health nursing care stated simply as the promotion and maintenance of optimal
family health to ensure cycles of optimal childbearing and childrearing.
I. Maternal, Neonatal and Child Mortality
Significant improvements in maternal and childcare have been realized in the past four decades. However,
pregnancy and childbirth still pose a great risk to Filipino women of the reproductive age (DOH, 2011). Maternal

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School of Nursing and Allied Medical Sciences
Department of Nursing
mortality rate is still high, reported by UNICEF, 2009 at 160 per 100,000 live births declining slowly to 120 in 2013.
Furthermore, UNICEF also reported the maternal situation in the Philippines.
▪ 160 women for every 100,000 births die.
▪ Roughly over 11 women die every day.
▪ 7 out of 10 deaths occur at childbirth or within a day after delivery.
▪ 4 out of 10 deaths are due to complications and widespread infections
▪ For every death, 40 more women get sick.
▪ 8 out of 10 births in rural areas are delivered outside a health facility
Table 1 shows the leading causes of maternal deaths, majority of which directly results from pregnancy
complications occurring during labor, delivery and postpartum. This is followed by hypertension complicating
pregnancy, childbirth and puerperium; postpartum hemorrhage and pregnancy with abortive outcome (DOH,
2011). These deaths of women while pregnant or within 42 days of termination of pregnancy, irrespective of
the duration and site of the pregnancy, from any cause related to or aggravated by the pregnancy or its
management but not from accidental or incidental causes.
Table 1. Leading causes, number and percent distribution of maternal deaths, Philippines, 2010.
Main Cause Number Percent
1. Complications related to pregnancy occurring in the course of labor, 660 38.4
delivery, and puerperium
2. Hypertension complicating pregnancy, childbirth, and puerperium 605 35.2
3. Postpartum hemorrhage 298 17.3
4. Pregnancy with abortive outcome 156 9.1
Total 1,719 100
According to the Field Health Service Information System 2022, infant mortality rate in the country is at 10.36
(target is 15 per 1,000 live births), maternal mortality rate is at 64.68 (target is 70 per 100,000 live births), and
adolescent birth rate is at 24.36 (target is 37 per 1,000 females aged 15-19 years old). Although the national
figures reflect an improving trend compared to the previous years, figures at the subnational level remain
alarming. MMR in the subnational level, for instance, ranges from 29 to 152.

The risk of maternal death is affected by many factors like:

 Frequency and spacing of births
 Nutrition level (maternal undernutrition)
 Stature and maternal age
 Appropriate medical and midwife support
 Access to emergency and intensive treatment if necessary.

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School of Nursing and Allied Medical Sciences
Department of Nursing
 Lack of management capacity in the health system.
 No political will and lack of management capacity in the health system.
 The majority of these deaths and disabilities are preventable, being mainly due to insufficient
care during pregnancy and delivery.
 HIV infection is an increasing threat. Mother-to-child transmission of HIV continues to be a major
problem, with up to 45 per cent of HIV-infected mothers transmitting infection to their children.
In 2013, although the infant mortality rate slightly increased, the number of registered infant deaths
slightly decreased by more than one percent, from last year’s 22,254 cases to 21,992 cases. It comprised of 4.1
percent of the total deaths (531,280) reported during the year. This represented a daily average of 60 infant
deaths and was equivalent to an Infant Mortality Rate (IMR) of 12.5 deaths per thousand live births. The top three
leading causes of infant mortality were Pneumonia (3,146; 14.3%); Bacterial sepsis of newborn (2,731; 12.4%); and
Respiratory distress of newborn (2,347; 10.7%). The listed top ten leading causes of infant mortality in 2013 were
the same with what was recorded in 2012 which only differ in ranks (Figure 1)

Figure 1.

These direct causes of maternal and neonatal deaths 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 attended by
traditional birth attendants or hilots. This contributes to the three delays that lead to maternal and neonatal
deaths.
1. Delay in identification of complications
a. Failure to recognize danger signs
b. Lack of money
c. Unplanned/unwanted pregnancy
d. Lack of companion in going to health facility

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 HOLY ANGEL UNIVERSITY
School of Nursing and Allied Medical Sciences
Department of Nursing
e. No person to take care of children/home.
f. Fear of being ill-treated in health facility.
2. Delay in referral
a. Distance from a woman’s home to health facility/provider
b. Lack of/poor condition of roads
c. Lack of emergency transportation
d. Lack of awareness of existing services
e. Lack of community support
3. Delay in management of complications
a. Lack of health care providers
b. Shortage of supplies
c. Lack of equipment
d. Lack of competence of health providers
e. Weak referral system

The most frequent causes of death in childhood are listed in Table 2. Notice unintentional injuries are the leading
cause of children, though many of these accidents are largely preventable through education about the value of
car seats and seat belt use, the dangers of drinking/drug abuse and driving and the importance of pedestrian
safety. Congenital anomalies and chromosomal abnormalities are the second most common diseases which can
be identified early, and some may be preventable. This will be discussed in the later part of the module.
Table 2. Major Causes of Death in Childhood.
Age group Causes of death
Under 1 year Congenital malformations and chromosomal
Disorders related to short gestation age and low birth weight
Maternal complications of pregnancy
Sudden infant death syndrome
Unintentional injuries (accidents)
1-4 years Unintentional injuries (accidents)
Congenital malformations and chromosomal abnormalities
Malignant neoplasm
Homicide
Diseases of the heart
5 to 9 years Unintentional injuries (accidents)
Malignant neoplasm
Congenital anomalies
Homicide
Diseases of the heart
10 to 14 years Unintentional injuries (accidents)
Suicide

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School of Nursing and Allied Medical Sciences
Department of Nursing
Malignant neoplasm
Homicide
Congenital anomalies
15 to 24 years Unintentional injuries (accidents)
Suicide
Homicide
Malignant neoplasm
Diseases of the heart

The country is on target in its efforts towards lowering child mortality rate, with infant mortality rate at 25.72 per
1,000 births in 2008 and under-five mortality rate at 32.8 per 1,000 live births. The Food and Nutrition Research
Institute (FNRI), however, estimates that prevalence of underweight among children less than five years of age. It
is worth noting that man of the leading causes of infant mortality (Figure 1) can be prevented by quality and
accessible maternal and newborn, and child services and improvement in maternal, infant and child nutrition.
DOH’s Essential package of child survival interventions
1. Skilled attendance during pregnancy, childbirth and the immediate postpartum
2. Care of the newborn
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 childcare.
1. Early Essential Newborn Care
2. Infant and Young Child Feeding
3. Newborn Screening
4. Integrated Management of Childhood Illness
5. Immunization Program

II. Maternal High Risk

The Department of Health response to the maternal and child situation, it takes into consideration the
interrelatedness of direct threats to the life of mothers and children. Addressing the risk factors of maternal
complication and identifying danger signs early reduce significantly both maternal and fetal mortality.
The danger signs of pregnancy which must be referred immediately are:
1. High fever

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 HOLY ANGEL UNIVERSITY
School of Nursing and Allied Medical Sciences
Department of Nursing
2. Severe vomiting
3. Severe headache
4. Pallor and labored breathing
5. Swelling of hands and feet
6. Foul smelling vaginal discharge
7. Severe abdominal pain, nape pain
8. PROM before expected delivery
9. Rhythmic cramping
10. Burning sensation w/ urination
11. Blurring of vision
12. High BP
Early and regular prenatal care is paramount in the prevention of complications and immediate management. A
pregnancy with a significant chance that the outcome may be less than ideal for either the mother or fetus or
both. One in which some maternal or fetal factor either psychosocial or psychological will result in a birth of high
risk infant or harm to the woman herself. The following are the prenatal care risk factor code (DOH, 2011):
1. < 15 years of age and 35 years 16. Convulsion
2. <145 cm in height 17. Albuminuria
3. Primigravid, Gravida 5 and above 18. Vaginal infections
4. Pelvic deformities 19. Vaginal bleeding
5. Leg deformities 20. Pitting edema
6. No prenatal or irregular prenatal 21. Heart or renal problem
care in previous pregnancies 22. Tuberculosis
7. >42 weeks and < 37 weeks AOG 23. Malaria
8. Pre pregnancy weight less than 24. Diabetes
80% of IBW 25. Rubella
9. Anemia <8 gm hemoglobin 26. Thyroid problems
10. Weight gain < 4% of pre pregnancy 27. Smoker/alcoholic drinker
weight per semester 28. Mentally incapacitated, socio
11. Weight gain > 6% of pre pregnancy economic streamlined
weight per semester 29. Unwanted pregnancy
12. Abnormal presentation 30. Illiterate mother
13. Multiple fetuses 31. Heavy manual labor
14. Hypertension 32. Unwed mother
15. Dizziness and blurring of vision

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 HOLY ANGEL UNIVERSITY
School of Nursing and Allied Medical Sciences
Department of Nursing

The above prenatal risks can be further categorized as:

1. Pre-existing risk g. Negative attitudes toward
a. Age pregnancy
b. Parity 3. Risks of labor and delivery
c. Social factors a. PROM
d. Environmental factors b. Amnionitis
e. Marital status c. Transverse lie
f. Pre-existing disease d. Prolonged/ obstructed
g. Physical stature labor
h. Nutritional status e. Intra-partal bleeding from
2. Risks emerging during pregnancy previa/abruptio
a. Anemia 4. Risks of postpartum
b. Hemorrhage a. Puerperal infection
c. Pregnancy induced b. Hemorrhage
hypertension c. Sub-involution
d. Transverse lie d. Postoperative
e. Malposition complications
f. Suspected CPD e. Thrombophlebitis
f. Depression
Assessing the pregnant mother based on the categories will further improve the decision making of the care
provider in prevention of complications during pregnancy, labor, and delivery. Furthermore, fetal death and infant
morbidity and mortality will be avoided.

III. Genetics and Genetic Counselling

Although the number three leading cause of infant mortality is chromosomal abnormalities, limited attention
has been given to birth defects and other genetic conditions (http://www.doh.gov.ph/mortality). Table 3 describes
the prevalence of congenital disorders by cause in the Philippines. This situation has been aggravated by the small
number of geneticists and genetic counselors who can provide genetic diagnosis, management, and counseling
services to patients. The delivery of medical genetic services thus remains a challenge in both private and public
sectors.

Table 3. Prevalence of congenital disorders by cause in the Philippines

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School of Nursing and Allied Medical Sciences
Department of Nursing
Causes Estimated Prevalence
1. Dominant single‐gene disorders 7
2. Recessive single gene disorders 2.3
3. X‐linked recessive single‐gene disorders 1.3
4. Chromosomal disorders 4.2
5. Malformations 63.9
• 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.
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 protein 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 pair of
autosomes and 1 pair of sex chromosomes).
o 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.
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.

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Department of Nursing
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 (Figure 2)

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 HOLY ANGEL UNIVERSITY
School of Nursing and Allied Medical Sciences
Department of Nursing

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) :
i. One of the parents of a child with the disorder also will have the disorder (a vertical
transmission picture).
ii. The sex of the affected individual is unimportant in terms of inheritance.
iii. 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.

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School of Nursing and Allied Medical Sciences
Department of Nursing

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.

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 HOLY ANGEL UNIVERSITY
School of Nursing and Allied Medical Sciences
Department of Nursing

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.

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 HOLY ANGEL UNIVERSITY
School of Nursing and Allied Medical Sciences
Department of Nursing

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:
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

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).

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School of Nursing and Allied Medical Sciences
Department of Nursing

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.

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 HOLY ANGEL UNIVERSITY
School of Nursing and Allied Medical Sciences
Department of Nursing

C. Chromosomal Abnormalities (Cytogenic Disorders)

o In some instances of genetic disease, 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.
o 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+)
a. 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 extra fold of tissue at the inner canthus
▪ Slant palpebral fissure
▪ Brush field spots (white specks on the iris of the eyes)
▪ Protruding tongue and small oral cavity
▪ The back of the head is flat, neck is short, and extra pad of fat 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

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School of Nursing and Allied Medical Sciences
Department of Nursing
▪ 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)
b. 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 syndrome (47XY13+ OR 47XX13+)
c. 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 lop 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+
d. 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)

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Department of Nursing
▪ 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 ovaries
▪ 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 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

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-)

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School of Nursing and Allied Medical Sciences
Department of Nursing
- 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-)
- Fragile X syndrome is the most common cause of cognitive challenge in males. It is an X-
linked disorder in which one 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 the physical and cognitive characteristics.
- Management
▪ Stimulants, atypical antipsychotics, serotonin reuptake inhibitors may improve
symptoms of poor concentration 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.

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o 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.
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 fetal surgery.

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Department of Nursing
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.
- A couple whose close relatives have a child with a genetic disorder such as a chromosomal disorder or
an inborn error of metabolism.
- Any individual who is a known carrier of chromosomal disorder.
- Any individual who has an inborn error of metabolism or chromosomal disorder.
- A consanguineous (closely related) couple.
- Any woman older than 35 years and any man older than 55 years.
- 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.
IV. Nursing Process for Genetic Assessment and Counseling
A. Assessment for Genetic Disorders
Genetic assessment begins with 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 (include half brother and sisters or
anyone related in any way as family)
- Document whether the parents are consanguineous or related to each other.
- Includes 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

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School of Nursing and Allied Medical Sciences
Department of Nursing
- 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
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 disorder (Table 4 and
Table 5). During 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.

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School of Nursing and Allied Medical Sciences
Department of Nursing
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 in number 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 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.
- More commonly done at 8 to 10 weeks.
- 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 (Fig. 11).
- 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.
- 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.
- Complications
a. Excessive bleeding (less than 1%) leading to pregnancy loss.
b. Children being born with missing limbs after the procedure (limb reduction syndrome).
c. Chills or fever suggestive of infection or symptoms of threatened miscarriage (uterine
contractions or vaginal bleeding).
d. Women with an Rh-negative blood type need Rh immune globulin administration after
the procedure to guard against isoimmunization in the fetus.

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School of Nursing and Allied Medical Sciences
Department of Nursing

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 karyotyping of skin cells found in the fluid as well as an analysis of AFP or
acetylcholinesterase.
- 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

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Department of Nursing
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 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 4. Genetic Disorder Screening and Diagnostic Tests

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School of Nursing and Allied Medical Sciences
Department of Nursing

Table 5. Common Genetic Disorders that can be detected by maternal serum, amniocentesis, or chorionic villus
sampling.

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School of Nursing and Allied Medical Sciences
Department of Nursing

a. Levels of four substances in pregnant women's blood (Quadruple screening) during 15-18 weeks of
pregnancy (Table 6)
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 6

B. Nursing Diagnosis

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 HOLY ANGEL UNIVERSITY
School of Nursing and Allied Medical Sciences
Department of Nursing
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).
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 involves 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. 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

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 HOLY ANGEL UNIVERSITY
School of Nursing and Allied Medical Sciences
Department of Nursing
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.

Integrative Activity
Watch the following videos:
1. How to create a Genogram - https://www.youtube.com/watch?v=bdlunUM3Rdc
2. Amniocentesis - https://www.youtube.com/watch?v=bZcGpjyOXt0
3. Chorionic villi sampling - https://www.youtube.com/watch?v=sxEf_ddmpZk
4. Chromosomal abnormalities - https://www.youtube.com/watch?v=sg7xe8C9DmQ

References
Silbert - Flagg, J. (2022). Maternal and child health nursing: Care of the childbearing and childbearing
family (9thed.). Philadelphia, PA: WoltersKluwer.
Famorca, Z.U., M.A.Nies and M. McEwen. Nursing Care of the Community: A comprehensive text
on community and public health nursing in the Philippines (6th ed.). Singapore, Elsevier.

Credits and Quality Assurance

Prepared:

MELANIE C. TAPNIO, MAN, RN, LPT

Assistant Professor

Recommending Approval:

DENMARK D. GABRIEL, MSN, RN, LPT

Assistant Professor & Chairperson, Nursing Program

Reviewed by:
LEONARDO ANGELES JR. PhD, MAN, RN, LPT
Assistant Professor & OBE Facilitator

Approved by:

ELMER BONDOC, PhD, MAN, RN

Dean
School of Nursing and Allied Medical Science

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