Professional Documents
Culture Documents
BY
Committee Members:
W Ndaleh PhD (Chair)
Mr. Tasong George Njuzi (Member)
CONGENITAL MALFORMATION: KNOWLEDGE, ATTITUDE AND RISK FACTORS
AMONG WOMEN AT THE REGIONAL HOSPITAL BUEA
July, 2022
IGE BLESSING IYANUOLUWA
ALL RIGTHS RESERVED
CONGENITAL MALFORMATION: KNOWLEDGE, ATTITUDE AND RISK FACTORS
AMONG WOMEN AT THE REGIONAL HOSPITAL BUEA
BY
Signature:……………………….. Date:……………………………
Signature:………………………. Date:…………………………….
I will like to express my heartfelt gratitude to my supervisor Mr. Tasong George Njuzi, whose
professional, time and physical support were vital in the completion of this work. Special thanks
go to all staff of Saint Monica university Higher Institution of Buea, for their professionalism
and critics which have played a great deal to my present achievement. Especially my Head of
whom gives me all the fully support I needed in my academic carrier. I am glad to use this
medium to express my appreciations to Oladeji Olumide and my siblings for their support and
encouragement inspired me to work harder, especially my sisters Ige Tolulope Adenike and Ige
Ruth Aanuoluwa and my friends Adeniyi Adetutu peace and Ajayi Lateefat Oluwabukunmi, who
assisted me with prayers and financial support throughout period of my studies. To all my friends
Above all to almighty God the who guide and protect me throughout the period of my study.
ABSTRACT
The purpose of this study is to evaluate the knowledge and attitude on the risk factors of
congenital malformations among pregnant women in RHB. This write up will study the
knowledge on the different causes of congenital malformations and the different cultural beliefs
on congenital malformations and the attitude about such beliefs and also on the risk factors
associated with congenital malformations. This study will elaborate on the different risk factors
and how it can be avoided based on relevant information about congenital malformation. A
descriptive research design will be utilized in this study and A Convenient sample of the
pregnant women registered for anti-natal care in Regional Hospital, Buea. (50) pregnant women
will be given questionnaire for this study for one month and it will be for those who were willing
I dedicate this research work to my parent (Mr. & Mrs. Ige Akintola Olusola).
CHAPTER ONE
GENNNERAL INTRODUCTION
Introduction
Congenital malformations (CM) are structural, functional, and metabolic defects that develop
during the organogenesis period and present at birth or detected later in life (Nhoncanse GC,et.al
2014). According to Beck (2012) throughout most of human history, congenital anomalies were
perceived as omens, portents or punishment of supernatural origin in many early cultures. For
example, if a Woman gives birth and the Anus is closed the land will suffer famine. These
malformations are present in 3% of all newborns and responsible for nearly 7% of neonatal
deaths worldwide (Ahmed W, Dey D, Farid R.2017). Congenital malformations can be caused
unknown etiological agents (Li Z, Ren A, Zhang L, Guo Z, Li Z.2006). Achondroplasia and
other forms of dwarfism are portrayed as divinities in the act of ancient Egypt and Greece as well
as Pre-Hispanic cultures of central and South America (Dasen, 2013). Other explanation includes
In the 18th century, superstitions still dominated public conception of malformations but this
topic was beginning to attract serious attention from the physicians and scientist. Toward the end
of the century, epigenesist finally achieved acceptance by the leading scientists opening the
doors to the investigation of normal and abnormal development. According to the Global Burden
of Disease (GBD) (2010) report, congenital anomalies accounted for 510,400 deaths worldwide
in 2010, 1% of all deaths (6% of neonatal and postnatal infant deaths) 2.5% of deaths 1-4 years.
Congenital anomalies ranked 14th among the causes of death (Boyle et al., 2018); an estimate of
7.9million children are born with a serious birth defect; many infants die worldwide within 4
weeks of birth and some die during delivery due to complications associated with birth defects.
Prevalence rate is more severe in middle- and low-income countries wherein 94% of serious
birth defects and 95% of deaths of these children occur (Bello et al., 2013).
Congenital anomalies have also been found to be among the top 20 leading cause of burden of
disease globally and a significant contributor to infant mortality with 11.3% of neonatal death
caused by congenital anomalies which may result in long term disabilities (Saus et al., 2017).
In Africa and Middle East, the prevalence ranged between 20 and 30/1000 live births in Uganda,
Saudi Atrabia, Pakistan and Kenya. In Egypt the prevalence was 65.3/1000 live births (Ali et al.,
2019) and in South Africa it was 1.49%. Another study carried out in Nigeria teaching hospital
showed that, out of 1057 new born, 67 had congenital anomalies giving a percentage of 6.3%
(Akinlabi E. Ajao and Ikeola A. Adeoye 2019). Congenital malformations are common in
Cameroon. According to a research carried out in Yaounde, the prevalence was 9 per 1000
births. The most common types of malformations were (per 1.000 births) polydactyly 2.1;
clubfeet 1.1, Neural tube defects 1.4; Hydrocephalus 1.1; oro-facial clefts 0.9; and abdominal
parietal defects 0.7 (Charlotte, T.et al 2015). Also another research carried out in General
Hospital Douala, 6048 neonates were examine 99 of whom had a malformation giving a
prevalence of 1.64% and among them musculoskeletal defects were the most common (36.4%)
followed by digestive tract defect (22.2%) neural tube defect (11.1%) and polymalformation
among the malformed babies 33% died within the first 48 hours (Robinson EnowMbu, et al.,
2016) Children who survive suffer from long term disabilities and pose a negative impact on
very high percentage of death and it calls for serious concern. The prevalence of this health
condition predisposes the children suffering from it to a lot of health challenges that makes their
stages of development to be complicated and makes them dependent on their family members for
care. The amount of care needed and the money needed to correct some of these malformations
are much and the specialists for these procedures are scarce and not easily available in our
hospitals in Cameroon which leads to the use of foreign experts to provide care. Most of these
conditions occurs due to the defects that occurs during pregnancy and they can also be prevented
if appropriate care is taken during the embryonic stage of development. Hence, the researcher
seeks to research on the knowledge, awareness and the risk factors of congenital malformation
To assess the knowledge, awareness and risk factors of congenital malformation among the
What is the level of knowledge, awareness and the risk factors of congenital abnormalities
This study will be focused on the knowledge, awareness and the risk factors of congenital
The study will be useful in assessing the knowledge of pregnant women on congenital
abnormalities. It will enlighten women on the dangers that congenital malformation poses to the
unborn child and how it affects their future and the economic status of the family and the
community. It will enlighten the women on the risk factors that predisposes the unborn child to
metabolic defects that develop during the organogenesis period and present at birth or detected
Knowledge: facts, information, and skills acquired through experience or education; the
Assessment: refers to the wide variety of methods or tools use to evaluate, measure and
Awareness: concern about and well informed interest in a particular situation or development.
Risk factors: it is something that increases the chances of someone developing a disease.
Birth defects: an often inherited medical condition that occurs at or before birth.
This chapter shows the brief introduction on the concept of congenital malformations and also it
talks about the different belief of the past about congenital malformation and also shows the new
scientific knowledge about congenital malformation. It also talks about the level of awareness of
LITERATURE REVIEW
CONCEPTUAL FRAMEWORK
The term "knowledge" can refer to a theoretical or practical understanding of a subject. It can be
implicit (as with practical skill or expertise) or explicit (as with the theoretical understanding of a
subject); formal or informal; systematic or particular (oxford dictionary, 2010). The philosopher
Plato argued that there was a distinction between knowledge and true belief in the Theaetetus,
leading many to attribute to him a definition of knowledge as "justified true belief" (Paul
Knowledge is the primary subject of the field of epistemology, which studies what we know,
how we come to know it, and what it means to know something (Steup Matthias, Neta Ram,
2020) Defining knowledge is an important aspect of epistemology, because it does not suffice to
have a belief; one must also have good reasons for that belief, because otherwise there would be
Awareness is the state of being conscious of something. More specifically, it is the ability to
directly know and perceive, to feel, or to be cognizant of events. Another definition describes it
as a state wherein a subject is aware of some information when that information is directly
available to bring to bear in the direction of a wide range of behavioral actions (Chalmers David,
1997). The concept is often synonymous to consciousness and is also understood as being
The states of awareness are also associated with the states of experience so that the structure
Awareness is a relative concept. It may be focused on an internal state, such as a visceral feeling,
sensing something, a process distinguished from observing and perceiving (which involves a
basic process of acquainting with the items we perceive) (Locke Don, 2002). Awareness or "to
sense" can be described as something that occurs when the brain is activated in certain ways,
such as when the color red is what is seen once the retina is stimulated by light waves (Locke
Don, 2002). This conceptualization is posited amid the difficulty in developing an analytic
Awareness is also associated with consciousness in the sense that this concept denotes a
As for consciousness, it has been postulated to undergo continuously changing levels (P.A.
Guertin, 2019).
intrauterine life, is a condition present at birth regardless of its cause (nichd,2017). Also called
prenatally and may be identified before or at birth, or later in life. Congenital anomalies are one
of the main causes of the global burden of disease, and low- and middle-income countries are
disproportionately affected. Birth defects may result in disabilities that may be physical,
intellectual, or developmental (nichd,2017). The disabilities can range from mild to severe.
Additionally, some congenital birth defects disrupt pregnancies leading to stillbirths and
miscarriages, which is particularly devastating to parents who plan to start a family (Gregory,
MacDorman, & Martin, 2014; Stillbirth Collaborative Research Network Writing Group, 2011).
Every year around 8 million children are born with severe birth defects worldwide, which
constitutes roughly 6% of births (Christianson, Howson, & Modell, 2006). Birth defects are
divided into two main types: structural disorders in which problems are seen with the shape of a
body part and functional disorders in which problems exist with how a body part works.
Functional disorders include metabolic and degenerative disorders. Some birth defects include
Primarily Structural
Several terms are used to describe congenital abnormalities. (Some of these are also used to
describe non congenital conditions, and more than one term may apply in an individual
condition.)
Terminology
A congenital physical anomaly is an abnormality of the structure of a body part. It may
or may not be perceived as a problem condition. Many, if not most, people have one or
more minor physical anomalies if examined carefully. Examples of minor anomalies can
include curvature of the fifth finger (clinodactyly), a third nipple, tiny indentations of the
skin near the ears (preauricular pits), shortness of the fourth metacarpal or metatarsal
bones, or dimples over the lower spine (sacral dimples). Some minor anomalies may be
Birth defect is a widely used term for a congenital malformation, i.e. a congenital,
considered a problem. According to the Centers for Disease Control and Prevention
(CDC), most birth defects are believed to be caused by a complex mix of factors
including genetics, environment, and behaviors (CDC,2015), though many birth defects
have no known cause. An example of a birth defect is cleft palate, which occurs during
the fourth through seventh weeks of gestation (CDC,2016). Body tissue and special cells
from each side of the head grow toward the center of the face. They join to make the face
(CDC,2016). A cleft means a split or separation; the "roof" of the mouth is called the
development.
Deformations often occur in the second or third trimester, and can be due to
oligohydramnios.
Whichello,2007).
When multiple effects occur in a specified order, they are known as a sequence. When
Primarily Metabolic
A congenital metabolic disease is also referred to as an inborn error of metabolism. Inborn errors
of metabolism are rare genetic disorders in which the body cannot properly turn food into
energy. The disorders are usually caused by defects in specific proteins(enzymes) that help break
down parts of food. A food product that is not broken down into energy can build up in the body
and cause a wide range of symptoms. Several inborn errors of metabolism cause developmental
delays or other medical problems if they are not controlled. There are many different types of
inborn errors of metabolism like; fructose intolerance, galactosemia, maple sugar urine disease,
phenylketouria.
1. Alcohol Exposure
The mother's consumption of alcohol during pregnancy can cause a continuum of various
permanent birth defects: craniofacial abnormalities (Jones K, Smith D, 1975) brain damage
(Clarren S, Alvord E, Sumi S, Streissguth A, Smith D,1978), intellectual disability (Abel EL,
Sokol RJ, 1986), heart disease, kidney abnormality, skeletal anomalies, ocular abnormalities
The prevalence of children affected is estimated at least 1% in U.S (May PA., Gossage JP.,2001)
as well in Canada.
However, recent animal research has shown a correlation between paternal alcohol exposure and
decreased offspring birth weight. Behavioral and cognitive disorders, including difficulties with
learning and memory, hyperactivity, and lowered stress tolerance have been linked to paternal
alcohol ingestion. The compromised stress management skills of animals whose male parent was
exposed to alcohol are similar to the exaggerated responses to stress that children with fetal
alcohol syndrome display because of maternal alcohol use. These birth defects and behavioral
disorders were found in cases of both long- and short-term paternal alcohol ingestion (Trasler
Jacquetta M., Doerksen Tonia,1999; Abel E. L.,2004). In the same animal study, paternal alcohol
exposure was correlated with a significant difference in organ size and the increased risk of the
2. Toxic Substances
Substances whose toxicity can cause congenital disorders are called teratogens, and include
medication use: folate antagonism, neural crest cell disruption, endocrine disruption, oxidative
stress, vascular disruption, and specific receptor- or enzyme-mediated teratogenesis (van Gelder
MM et.al.,2010)
An estimated 10% of all birth defects are caused by prenatal exposure to a teratogenic agent
(Ronan O'Rahilly, Fabiola Müller,2001). These exposures include medication or drug exposures,
maternal infections and diseases, and environmental and occupational exposures. Paternal
smoking has also been linked to an increased risk of birth defects and childhood cancer for the
offspring, where the paternal germline undergoes oxidative damage due to cigarette use (Zhu J.
L et.al.,2005; Ji B.T. et. al.,1997). Teratogen-caused birth defects are potentially preventable.
Nearly 50% of pregnant women have been exposed to at least one medication during gestation
(Bracken MB, Holford TR, Holford,1981). During pregnancy, a woman can also be exposed to
teratogens from contaminated clothing or toxins within the seminal fluid of a partner (Anderson
Diana, et al., 2014; Chia S-E, Shi L. M.,2002). An additional study found that of 200 individuals
referred for genetic counseling for a teratogenic exposure, 52% were exposed to more than one
Probably, the most well-known teratogenic drug is thalidomide. It was developed near the end of
the 1950s by Chemie Grünenthal as a sleep-inducing aid and antiemetic. Because of its ability to
prevent nausea, it was prescribed for pregnant women in almost 50 countries worldwide between
1956 and 1962 (Novotná Miroslav, Peterka Božena.2010). Until William McBride published the
study leading to its withdrawal from the market in 1961, about 8,000 to 10,000 severely
malformed children were born. The most typical disorders induced by thalidomide were
reductional deformities of the long bones of the extremities. Phocomelia, otherwise a rare
deformity, therefore helped to recognise the teratogenic effect of the new drug. Among other
malformations caused by thalidomide were those of ears, eyes, brain, kidney, heart, and digestive
and respiratory tracts; 40% of the prenatally affected children died soon after birth (Novotná
myeloma and leprosy, several births of affected children were described in spite of the strictly
Vitamin A is the sole vitamin that is embryotoxic even in a therapeutic dose, for example in
multivitamins, because its metabolite, retinoic acid, plays an important role as a signal molecule
in the development of several tissues and organs. Its natural precursor, β-carotene, is considered
safe, whereas the consumption of animal liver can lead to malformation, as the liver stores
lipophilic vitamins, including retinol (Novotná Miroslav, Peterka Božena.2010). Isotretinoin (13-
cis-retinoic-acid; brand name Roaccutane), vitamin A analog, which is often used to treat severe
acne, is such a strong teratogen that just a single dose taken by a pregnant woman (even
transdermally) may result in serious birth defects. Because of this effect, most countries have
systems in place to ensure that it is not given to pregnant women and that the patient is aware of
how important it is to prevent pregnancy during and at least one month after treatment. Medical
guidelines also suggest that pregnant women should limit vitamin A intake to about 700 μg/day,
as it has teratogenic potential when consumed in excess (Hunt JR, 1996; Hartmann S, Brørs O,
Bock J, et al.,2005). Vitamin A and similar substances can induce spontaneous abortions,
premature births, defects of eyes (microphthalmia), ears, thymus, face deformities, and
neurological (hydrocephalus, microcephalia) and cardiovascular defects, as well as intellectual
children, because of its negative impact on bone mineralization and teeth mineralization. The
"tetracycline teeth" have brown or grey colour as a result of a defective development of both the
4. Toxic Substances
Drinking water is often a medium through which harmful toxins travel. Heavy metals, elements,
nitrates, nitrites, and fluoride can be carried through water and cause congenital disorders.
Nitrate, which is found mostly in drinking water from ground sources, is a powerful teratogen. A
case-control study in rural Australia that was conducted following frequent reports of prenatal
mortality and congenital malformations found that those who drank the nitrate-containing
groundwater, as opposed to rain water, ran the risk of giving birth to children with central
nervous system disorders, muscoskeletal defects, and cardiac defects (Croen Lisa, Todoroff
Chlorinated and aromatic solvents such as benzene and trichloroethylene sometimes enter the
water supply due to oversights in waste disposal. A case-control study on the area found that by
1986, leukemia was occurring in the children of Woburn, Massachusetts, at a rate that was four
times the expected rate of incidence. Further investigation revealed a connection between the
high occurrence of leukemia and an error in water distribution that delivered water to the town
miscarriages, interfere with the development of the female reproductive system, cause the
Božena.2010).
Fluoride, when transmitted through water at high levels, can also act as a teratogen. Two reports
on fluoride exposure from China, which were controlled to account for the education level of
parents, found that children born to parents who were exposed to 4.12 ppm fluoride grew to have
IQs that were, on average, seven points lower than their counterparts whose parents consumed
water that contained 0.91 ppm fluoride. In studies conducted on rats, higher fluoride in drinking
water led to increased acetylcholinesterase levels, which can alter prenatal brain development.
The most significant effects were noted at a level of 5 ppm (Cite journal,2000).
5. Smoking
Paternal smoking prior to conception has been linked with the increased risk of congenital
Smoking causes DNA mutations in the germline of the father, which can be inherited by the
offspring. Cigarette smoke acts as a chemical mutagen on germ cell DNA. The germ cells suffer
oxidative damage, and the effects can be seen in altered mRNA production, infertility issues, and
side effects in the embryonic and fetal stages of development. This oxidative damage may result
in epigenetic or genetic modifications of the father's germline. Fetal lymphocytes have been
damaged as a result of a father's smoking habits prior to conception (Ji B.T. et. al.,1997;
cancers (including acute leukemia, brain tumors, and lymphoma) before age five have been
established. Little is currently known about how paternal smoking damages the fetus, and what
window of time in which the father smokes is most harmful to offspring (Ji B.T. et. al.,1997).
6. Infections
parasites transmitted directly from the mother to an embryo, fetus, or baby during pregnancy or
childbirth.
Congenital disorders were initially believed to be the result of only hereditary factors. However,
in the early 1940s, Australian pediatric ophthalmologist Norman Gregg began recognizing a
pattern in which the infants arriving at his surgery were developing congenital cataracts at a
higher rate than those who developed it from hereditary factors. On October 15, 1941, Gregg
delivered a paper that explained his findings-68 out of the 78 children with congenital cataracts
had been exposed in utero to rubella due to an outbreak in Australian army camps. These
findings confirmed, to Gregg, that, in fact, environmental causes for congenital disorders could
exist.
Rubella is known to cause abnormalities of the eye, internal ear, heart, and sometimes the teeth.
More specifically, fetal exposure to rubella during weeks five to ten of development (the sixth
week particularly) can cause cataracts and microphthalmia in the eyes. If the mother is infected
with rubella during the ninth week, a crucial week for internal ear development, destruction of
the organ of Corti can occur, causing deafness. In the heart, the ductus arteriosus can remain
after birth, leading to hypertension. Rubella can also lead to atrial and ventricular septal defects
in the heart. If exposed to rubella in the second trimester, the fetus can develop central nervous
misdiagnosed, or unrecognized in the mother, and/or some abnormalities are not evident until
later in the child's life, precise incidence of birth defects due to rubella are not entirely known.
The timing of the mother's infection during fetal development determines the risk and type of
birth defect. As the embryo develops, the risk of abnormalities decreases. If exposed to the
rubella virus during the first four weeks, the risk of malformations is 47%. Exposure during
weeks five through eight creates a 22% chance, while weeks 9–12, a 7% chance exists, followed
by 6% if the exposure is during the 13th-16th weeks. Exposure during the first eight weeks of
development can also lead to premature birth and fetal death. These numbers are calculated from
immediate inspection of the infant after birth. Therefore, mental defects are not accounted for in
the percentages because they are not evident until later in the child's life. If they were to be
Other infectious agents include cytomegalovirus, the herpes simplex virus, hyperthermia,
disorder in which the fetus has an atypically small head (Mayo Clinic,2014), cerebral
calcifications means certain areas of the brain have atypical calcium deposits
(MedicineNet,2014) and meningoencephalitis is the enlargement of the brain. All three disorders
the liver and spleen which causes digestive problems (RSS,2011). It can also cause some
kernicterus and petechiae. Kernicterus causes yellow pigmentation of the skin, brain damage,
and deafness (Medical Encyclopedia,2014). Petechaie is when the capillaries bleed resulting in
red/purple spots on the skin (Mayo Clinic,2014). However, cytomegalovirus is often fatal in the
embryo. The Zika virus can also be transmitted from the pregnant mother to her baby and cause
microcephaly.
The herpes simplex virus can cause microcephaly, microphthalmus (abnormally small eyeballs)
(Texas School for the Blind and Visually Impaired, 2014), retinal dysplasia, hepatosplenomegaly,
and mental retardation. Both microphthalmus and retinal dysplasia can cause blindness.
However, the most common symptom in infants is an inflammatory response that develops
during the first three weeks of life. Hyperthermia causes anencephaly, which is when part of the
brain and skull are absent in the infant (Centers for Disease Control and Prevention,2014).
mental disabilities) (Mayo Clinic,2014) and mental retardation in infants. Other birth
abnormalities have been reported as well, such as chorioretinitis, microphthalmus, and ocular
defects. Syphilis causes congenital deafness, mental retardation, and diffuse fibrosis in organs,
7. Lack of Nutrients
For example, a lack of folic acid, a B vitamin, in the diet of a mother can cause cellular neural
tube deformities that result in spina bifida. Congenital disorders such as a neural tube deformity
can be prevented by 72% if the mother consumes 4 mg of folic acid before the conception and
after 12 weeks of pregnancy. Folic acid, or vitamin B 9, aids the development of the fetal nervous
to the offspring displaying significantly lower blood glucose levels (Anderson Lucy M.,2006)
8. Physical Restraint
External physical shocks or constraints due to growth in a restricted space may result in
oligohydramnios. This finding is important for future understanding of how genetics may
For multicellular organisms that develop in a womb, the physical interference or presence of
other similarly developing organisms such as twins can result in the two cellular masses being
integrated into a larger whole, with the combined cells attempting to continue to develop in a
manner that satisfies the intended growth patterns of both cell masses. The two cellular masses
can compete with each other, and may either duplicate or merge various structures. This results
in conditions such as conjoined twins, and the resulting merged organism may die at birth when
it must leave the life-sustaining environment of the womb and must attempt to sustain its
9. Genetics
Genetic causes of birth defects include inheritance of abnormal genes from the mother or the
father, as well as new mutations in one of the germ cells that gave rise to the fetus. Male germ
cells mutate at a much faster rate than female germ cells, and as the father ages, the DNA of the
germ cells mutates quickly (Sartorius G. A., Nieschlag E., 2009). If an egg is fertilized with perm
that has damaged DNA, a possibility exists that the fetus could develop abnormally (Savitz
David A.,1991).
Genetic disorders are all congenital (present at birth), though they may not be expressed or
recognized until later in life. Genetic disorders may be grouped into single-gene defects,
abnormalities of both copies of an autosomal gene (a recessive disorder) or of only one of the
two copies (a dominant disorder). Some conditions result from deletions or abnormalities of a
few genes located contiguously on a chromosome. Chromosomal disorders involve the loss or
of genes. Large chromosomal abnormalities always produce effects on many different body parts
10. Radiation
For the survivors of the atomic bombing of Hiroshima and Nagasaki, who are known as the
found among their later conceived children, or found in the later conceived children of cancer
survivors who had previously received radiotherapy (WHO,2013) The surviving women of
Hiroshima and Nagasaki who were able to conceive, though exposed to substantial amounts of
radiation, later had children with no higher incidence of abnormalities/birth defects than in the
Relatively few studies have researched the effects of paternal radiation exposure on offspring.
Following the Chernobyl disaster, it was assumed in the 1990s that the germ line of irradiated
fathers suffered minisatellite mutations in the DNA, which was inherited by descendants
(Dubrova Yuri E.et al.,1996). More recently, however, the World Health Organization states,
"children conceived before or after their father's exposure showed no statistically significant
2006). This statistically insignificant increase was also seen by independent researchers
analyzing the children of the liquidators (Furitsu Katsumi,2005). Animal studies have shown that
incomparably massive doses of X-ray irradiation of male mice resulted in birth defects of the
offspring.
Certain birth complications can occur more often in advanced maternal age (greater than 35
years). Complications include fetal growth restriction, preeclampsia, placental abruption, pre-
mature births, and stillbirth. These complications not only may put the child at risk, but also the
The effects of the father's age on offspring are not yet well understood and are studied far less
extensively than the effects of the mother's age (Olshan Andrew F.et al.,1994). Fathers
contribute proportionally more DNA mutations to their offspring via their germ cells than the
mother, with the paternal age governing how many mutations are passed on. This is because, as
humans age, male germ cells acquire mutations at a much faster rate than female germ cells.
Around a 5% increase in the incidence of ventricular septal defects, atrial septal defects, and
patent ductus arteriosus in offspring has been found to be correlated with advanced paternal age.
Advanced paternal age has also been linked to increased risk of achondroplasia and Apert
syndrome. Offspring born to fathers under the age of 20 show increased risk of being affected by
patent ductus arteriosus, ventricular septal defects, and the tetralogy of Fallot. It is hypothesized
that this may be due to environmental exposures or lifestyle choices (Olshan Andrew F.et
al.,1994).
Research has found that there is a correlation between advanced paternal age and risk of birth
defects such as limb anomalies, syndromes involving multiple systems, and Down syndrome
(Yang Q.,2006).
Preventive public health measures work to decrease the frequency of certain birth defects
through the removal of risk factors or the reinforcement of protective factors. Important
Ensuring adolescent girls and mothers have a healthy diet including a wide variety of
Ensuring an adequate dietary intake of vitamins and minerals, particularly folic acid in
Ensuring that any exposure of pregnant women to medications or medical radiation (such
Vaccination, especially against the rubella virus, for children and women;
Increasing and strengthening education of health staff and others involved in promoting
Screening for infections, especially rubella, varicella and syphilis, and consideration of
treatment.
Theoretical review
According to the work of Davis, Streeter, and Kramer as well as on the study of pathologic
specimens from the Instituto Nacional de Cardiologia of Mexico, and from medical literature,
the theory, ontogenetic theory was proposed to explained congenital truncoconal malformations.
developmental alterations ridges, and the primordia of the aortic and pulmonary cusps. Old
concepts are reevaluated and new ones are established in relation to lateral positions,
transposition, unequal partitioning at the expense of the aorta or pulmonary artery, common
truncus and valvular defects. Anatomic and embryologic correlations are made in order to permit
the pathologic diagnosis of these malformations. The different pictures of isolated and combined
truncoconal malformations (which actually exist or may theoretically exist according to the
pulmonary arches. If one ridge should arise from a more dorsal position than is normal, the sixth
arch on that side would be incorporated in the anterior vessel resulting from the division of the
truncus (aorta). Only one lateral pulmonary artery would then arise from the posterior vessel
(pulmonary trunk). The absence of a primary division of the pulmonary trunk is thus due to
defective septation of the truncus and not to a developmental error of the sixth arch. The truncal
ridges arise from two diametrically opposite regions on a plane oblique to the sagittal, the left
ridge being more ventral than the right. Therefore. the degree of shifting required for the left
ridge to arise dorsally to the origin of the left sixth arch is greater than that required for the
According to the theory just outlined, this anomaly results from dorsal shifting of the right
truncal ridge: the right sixth arch is then incorporated into the newly formed ascending aorta. The
pulmonary trunk gives rise solely to the left pulmonary artery. If the dorsorotation of the right
ridge affects only the most cephalad portion of the truncus, no additional cardiovascular
anomalies will occur. Essentially normal hemodynamic still result in a predominance of the left
The destiny of the right sixth arch is de pendent on hemodynamic and mechanical factors. With
the resorption of the right dorsal aorta, the right fourth arch (innominate artery) acquires
cephalad orientation. The right sixth arch is then pulled in three different directions: cephalad
from the innominate, caudally from the right lung, and medially from the ascending aorta.
Depending on the direction of the resulting force, the primitive pulmonary artery aligns either
with the proximal or with the distal segment of the arch. In the first case, The distal segment,
under unfavourable mechanical and hemodynamic influences, would atrophy and the right
pulmonary artery would then depart from the ascending aorta. In the second event the anomalous
This complicated anatomic picture results from dorsorotation of the left truncoconal ridge. The
incorporation of the left sixth arch into the ascending aorta requires a degree of dorsorotation so
pronounced as to cause hypoplasia of the pulmonary trunk and of the right ventricular outflow
tract. The truncoconal and the muscular ventricular septa lying on different planes cannot fuse
and a ventricular defect, overridden by a large aorta, ensues. Cephalad, the abnormally cloven
ascending aorta is slanted to the right and thus imparts to the blood column a rightward swing.
Blood then flows preferentially into the right fourth arch and the right dorsal aorta. The left
dorsal aorta, receiving less of this blood and none from the pulmonary trunk, involutes.
Consequently, the fourth arch on the left becomes the innominate artery and on the right persists
as the definitive aortic arch. The aberrant left pulmonary artery will arise either from the
ascending aorta or from the left innominate, depending on whether the primitive pulmonary
vessel aligns with the proximal or the distal segment of the sixth arch.
The present theory postulates the existence of both lateral pulmonary arteries, but while one
originates normally from the pulmonary trunk, the other is aberrant in that it from a systemic
vessel. The term "absence of a pulmonary artery" is thus inappropriate, and it would perhaps be
preferable to describe the syndrome morphologically as "absence of a primary division of the
pulmonary trunk."
Although some of the more recent reports have included a description of the aberrant vessel, in
many cases this has neither been visualized by angiocardiography nor demonstrated at autopsy.
Wagenvoort et al. have noted that the initial portion of the "systemic" pulmonary artery contains
proliferation. Depending on the extent of this process, which apparently does not always occur,
the terminal portion of the vessel (primitive pulmonary artery) is under less hemodynamic
stimulus or none at all, and thus either remains hypoplastic or atrophies. This might be the reason
why angiography so often fails to visualize the aberrant pulmonary artery which, at times, cannot
be recognized at the autopsy either. This might also explain the very large collateral circulation
to the "affected" lung in cases in which the aberrant pulmonary artery is hypoplastic or atrophic.
Ellis and associates 16 demonstrated in rats that ligation of one pulmonary artery causes a
striking enlargement of the bronchial arteries on the same side, and Liebow et al. have shown
that the establishment of a pulmonary collateral circulation occurs more rapidly the younger the
subject is at the time the pulmonary arterial flow is impaired. As has been discussed in detail, the
"systemic" pulmonary artery may originate either from the ascending aorta or from the
innominate. The actual site of origin depends on the interplay of forces responsible for aligning
the primitive pulmonary artery either with the proximal or with the distal portion of the sixth
arch.
Empirical Review
There are lots of literature that have been written in relation to this study but all cannot be
reviewed in this study. Therefore, some studies have been reviewed in relation to this work.
Congenital anomalies or birth defects are structural or functional anomalies, including metabolic
disorders, which are present at the time of birth. Some of the congenital anomalies may be life
threatening, may impair function or interfere with the cosmetic value of an individual, hence an
may have a significant impact not only on a child’s well-being and development, but also on
families, health care systems and societies. The impact of congenital anomalies is severe in
middle- and low-income countries. As a matter of fact, it is estimated that approximately 95% of
the children who die from birth defects are from those countries this can be seen in the work of
Florence mashuda (2014) where the data showed that among 445 young infants enrolled in the
study, the prevalence of congenital anomalies was 29%, with the Central Nervous System (CNS)
as the most commonly affected organ system. Maternal factors that were significantly associated
with congenital anomalies included the lack of peri-conceptional use of folic acid (OR = 3.1;
95% CI = 1.4-6.7; p = 0.005), a maternal age of above 35 years (OR = 2.2; 95% CI = 1.1-4.3; p =
0.024) and an inadequate attendance to antenatal clinic (OR = 2.1; 95% CI = 1.4-3.3; p < 0.001).
Infant factors that were significantly associated with congenital anomalies were female sex, a
birth weight of 2.5 kg or more, singleton pregnancy and a birth order above 4. The study
concluded that Due to the high prevalence of congenital anomalies observed in this particular
context, the hospital should mobilize additional resources for an optimal and timely management
of the patients with congenital anomalies. In this study, the proportion of women taking folic
acid supplements during early pregnancy was very low. Efforts should be made to ensure that
more women use folic acid during the peri-conceptional period, as the use of folic acid
supplement has been linked by several authors to a reduced occurrence of some congenital
anomalies.
This is similar to Data that were collected using a structured questionnaire by Sozan with 35,803
recorded births in the Maternity Teaching Hospital, Erbil, 130 women delivered babies with at
least one congenital anomaly, giving a rate of 3.63/1000 deliveries. The most common area for
anomalies was the central nervous system (37.7%) followed by the musculoskeletal (23.1%) and
gastrointestinal systems (20.8%). And it concluded that Anomalies were most likely to be in the
consanguinity, and history of medical disorders were the most important factors associated with
congenital anomalies. This study provides baseline information for future prevention and better
management of patients likely to have babies with congenital anomalies. More research is
required to identify the factors responsible for the different types of congenital anomalies.
Human embryo is well protected in the uterus by the embryonic membrane, although teratogens
may cause developmental disruptions after maternal exposure to them during early pregnancy.
Most of the risk factors contributing to the development of congenital anomalies are uncertain;
however, genetic factors, environmental factors and multifactorial inheritance are found to be
risk factors. Regardless of their clinical importance, there are little/no studies conducted directly
Risk factors such as unidentified medicinal usage in the first three months of pregnancy (AOR =
3.435; 99% CI: 2.012–5.863), exposure to pesticide (AOR = 3.926; 99% CI: 1.266–12.176),
passive smoking (AOR = 4.104; 99% CI: 1.892–8.901), surface water as sources of drinking
(AOR = 2.073; 99% CI: 1.221–3.519), folic acid supplementation during the early pregnancy
(AOR = 0.428; 99% CI: 0.247–0.740) were significantly associated with the congenital
anomalies.
Conclusions
In this study, risk factors such as passive smoking, exposure to pesticides, chemicals and use of
surface water as a source of drinking during early pregnancy had a significant association with
congenital anomalies. There is a need to continuously provide health information for the
Results The birth prevalence of CAs was 412/10 000 births (95% CI 388.6 to 434.9), driven
mainly by congenital heart disease (148 per 10 000) (95% CI 134 to 162), renal malformations
(113, 95% CI 110 to 125), neural tube defects (19, 95% CI 25.3 to 38.3) and chromosomal
anomalies (27, 95% CI 21 to 33). In this study, the burden of potentially modifiable risk factors
included high rates of diabetes (7.3%, OR 1.98, 95% CI 1.04 to 2.12), maternal age >40 years
(7.0%, OR 2.1, 95% CI 1.35 to 3.3), consanguinity (54.5%, OR 1.5, 95% CI 1.28 to 1.81). The
mortality for live births with CAs at 2 years of age was 15.8%.
care. Specifically, folic acid fortification (the neural tube defect prevalence was >3 times that
consanguinity-related counselling could have significant and broad health benefits in this cohort
This is an open access article distributed in accordance with the Creative Commons Attribution
Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt,
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provided the original work is properly cited, appropriate credit is given, any changes made
Congenital malformations is one of the main causes of physical disabilities, stillbirths, and
neonatal deaths. The exact etiology of most congenital malformations is unidentified but genetic
and environmental causes which include; teratogens, toxic substances, alcohol, smoking, parent’s
age, physical restraint, lack of nutrients, infection etc. These factors contribute to different body
parts malformation during the embryonic stage of the fetus and this effects is possible because,
these substances can pass through the placenta barrier and affect the baby in utero causing
deformities like cleft palate, spinal bifida, down syndrome etc. These events can be prevented
when there is adequate information on congenital malformation risk factor and if they are
avoided.
CHAPTER THREE
METHODOLOGY
The Regional Hospital Buea is found in Buea in the Fako Division of the South West Cameroon
It is about 2km away from the mile 17 motor park. It is situated precisely between the
delegations of education and the army barracks, along the highway to the Bokwango
neighbourhood.
The hospital is made up of many units/departments/centres including the following unit (male
and female), the surgical unit, the paediatrics unit, the maternity unit, the Laboratory unit, the X-
ray unit, the haemodialysis centre, the Tuberculosis centre, the theatre department and the
Paediatrician). But control of the wards is done by the ward charges like senior midwives
Also present in the hospital are nurses of all categories ranging from Nursing assistant (NAS)
State Registered Nurses (SRN). Higher National Diploma Nurses (HND), Degree (BNS) and
This study followed a descriptive research design and was carried out from May 2022 to October
2022.
The target population were patients undergoing anti natal care in Regional hospital in Buea in
The inclusion criteria are patients that are undergoing anti natal care in Regional hospital Buea.
The exclusion criteria are patients not receiving anti natal care in Regional hospital Buea.
An authorization letter was collected from the administration of St monica university higher
institute and attached to it will be a hand written application to the Southwest regional delegation
of public health. After which the letter of permission will be taken to the Director of Regional
Hospital Buea, who hopefully grant a letter of permission to carry out research. This
authorization letter will be attached to another written application to the ward charges.
The study was carried out during working hours after an authorization letter has been gotten
during the study for any participants’ chosen. The purpose of the study with the explained Data
was collected with the use of structured questionnaire and it was formulated into open and close
ended questions. The questionnaire was based on the information from the literature review and
the stated objectives. It consists of 4 sections in which section A will be the demographic data of
the respondents, section B will be to assess the knowledge of pregnant women on congenital
malformation, section D will be on the assessment of pregnant women on the risk factors of
congenital malformations. After answering, questionnaire was well coded to maintain the
participant's confidentiality.
3.7.DATA ANALYSIS
After the collection of data through the use of questionnaire, the responses of the participants
will be analysed manually using stationaries like papers, pen, pencils, calculator and ruler, then
SECTION A
SOCIO-DEMOGRAPHIC DATA
4. OCCUPATION 5. RESIDENCE:
STUDENT RURAL
SELF EMPLOYED
SECTION B
The following questions are to assess the knowledge of pregnant women on congenital
malformation. Indicate your agreement or disagreement by ticking your answers in the
appropriate space:
YES [ ] NO[ ]
SECTION C
The following questions talks about the risk factors of congenital malformations. Indicate
your agreement or disagreement by ticking your response in the appropriate space:
7. Does the mother’s age predispose the unborn child to congenital malformation?
YES [ ] NO [ ]
8. Does alcohol consumption predispose an unborn child to congenital malformation?
YES [ ] NO [ ]
9. Does use of over the counter drugs without prescription predispose the child to congenital
malformation?
YES [ ] NO [ ]
10. Does exposure to solvents and chemicals have any effect on the unborn?
YES [ ] NO [ ]
11. Does cigarette smoking have an effect on the unborn child?
YES [ ] NO [ ]
12. Does infection caused by bacteria & viruses predispose an unborn child to congenital
malformation?
YES [ ] NO [ ]
The following questions talks about the prevention methods of congenital malformations.
Indicate your agreement or disagreement by ticking your response in the appropriate space:
13. Do you attend ANC as regularly as possible?
YES [ ] NO [ ]
14. Is the usage of folic acid important to the development of the fetus during pregnancy?
YES [ ] NO [ ]
15. Is it Important to follow the medical advice given in the hospital during pregnancy?
YES [ ] NO [ ]
16. Is it good to stop drinking alcohol during pregnancy for the maximum health of the
unborn child?
YES [ ] NO [ ]