Congenital Disease (Penyakit Kongenital)

CONGENITAL DISEASE

BY:

FARID MA`RUF

RIDHO MUHARROM

MUHAMMADIYAH BANJARMASIN HEALTH COLLEGE

2014

CHAPTER I

INTRODUCTION

Congenital disease (or also known as congenital disorder) can be defined

as structural or functional anomalies, including metabolic disorders those are

existing at birth and often before birth, or that develops during the first month of

life (neonatal disease). A congenital disorder may be the result of genetic

abnormalities, the intrauterine (uterus) environment, errors of morphogenesis,

infection, or a chromosomal abnormality. The outcome of the disorder will

depend on complex interactions between the pre-natal deficit and the post-natal

environment. Animal studies indicate that the mother's (and possibly but less

probably the father's) diet, vitamin intake, and glucose levels prior to ovulation

and conception have long-term effects on fetal growth and adolescent and adult

disease. Congenital disorders vary widely in causation and abnormalities. Any

substance that causes birth defects is known as a teratogen. Some disorders can be

detected before birth through prenatal diagnosis (screening).

CHAPTER II

DISCUSSION

1. Causes and Risk Factors of Congenital Disease

a. Toxic Substances

Drug use during pregnancy can have temporary or permanent effects

on the fetus. Any drug that acts during embryonic or fetal development to

produce a permanent alteration of form or function is known as a teratogen.

Substances whose toxicity can cause congenital disorders are called

"teratogens", and include certain pharmaceutical and recreational drugs in

pregnancy as well as many environmental toxins in pregnancy.

Environmental toxins and fetal development is the impact of different

toxins from the environment on the development of the fetus. The human

embryo or fetus is relatively susceptible to impact from adverse conditions

within the mother's environment. Sub-par fetal conditions often cause various

degrees of developmental delays, both physical and mental, for the growing

baby. Although some variables do occur as a result of genetic conditions

pertaining to the father, a great many are directly brought about from

environmental toxins that the mother is exposed to.

b. Infections

A vertically transmitted infection is an infection caused by bacteria,

viruses or, in rare cases, parasites transmitted directly from the mother to an

embryo, fetus or baby during pregnancy or childbirth. It can occur when the

mother gets an infection as an intercurrent disease in pregnancy. Nutritional

deficiencies may exacerbate the risks of perinatal infection.

c. Lack of Nutrition

Nutrition and pregnancy refers to the nutrient intake, and dietary

planning that is undertaken before, during and after pregnancy.

In a precursory study into the link between nutrition and pregnancy in

1950, women who consumed minimal amounts over the eight-week period

had a higher mortality or disorder rate concerning their offspring than women

who ate regularly, attributed to the fact that the children born to well-fed

mothers had less restriction within the womb.

Not only have physical disorders been linked with poor nutrition

before and during pregnancy, but neurological disorders and handicaps are a

risk that is run by mothers who are malnourished, a condition which can also

lead to the child becoming more susceptible to later degenerative disease(s).

23.8% of babies are estimated to be born with lower than optimal weights at

birth due to lack of proper nutrition.

d. Physical Restraint

External physical shocks or constrainment due to growth in a restricted

space, may result in unintended deformation or separation of cellular

structures resulting in an abnormal final shape or damaged structures unable to

function as expected. An example is Potter syndrome due to oligohydramnios.

e. Genetic Causes

Genetic causes of congenital anomalies include inheritance of

abnormal genes from the parents, as well as new mutations in one of the germ

cells that gave rise to the fetus. Genetic diseases may be divided into single-

gene defects, multiple-gene disorders, or chromosomal defects. Single-gene

defects may arise from 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

duplication of larger portions of a chromosome (or an entire chromosome)

containing hundreds of genes. Large chromosomal abnormalities always

produce effects on many different body parts and organ systems.

f. Maternal Age

It is known that mongolisme is more common in babies born to

mothers who approach menopause. In the newborn ward of Dr. Cipto

Mangunkusumo Hospital in 1975-1979, found clinically that the incidence of

mongolism is 1.08 per 100 live births and found a relative risk of 26.93 for

groups of women in 35 years old or more; state numbers found was 1:5500 for

groups of women under 35 years old, 1:600 for groups of women in 35-39

years old, 1:75 for groups of women in 40-44 years old and 1: 15 for groups of

women in 45 years old or better.

g. Hormonal Factors

Hormonal factors also alleged to have a relationship with the incidence

of congenital abnormalities. Babies born to mothers with maternal

hypothyroidism or diabetes mellitus is likely to experience greater growth

disorders when compared to normal infants.

h. Unknown Multifactorial

Although significant progress has been made in identifying the

etiology of some birth defects, approximately 65% have no known or

identifiable cause. These are referred to as sporadic, a term that implies an

unknown cause, random occurrence regardless of maternal living conditions,

and a low recurrence risk for future children. For 20-25% of anomalies there

seems to be a "multifactorial" cause, meaning a complex interaction of

multiple minor genetic anomalies with environmental risk factors. Another 10-

13% of anomalies have a purely environmental cause (e.g. infections, illness,

or drug abuse in the mother). Only 12-25% of anomalies have a purely genetic

cause. Of these, the majority are chromosomal anomalies.

i. Role of Radiation

For the survivors of the atomic bombing of Hiroshima and Nagasaki,

who are known as the Hibakusha, no statistically demonstrable increase of

birth defects/congenital malformations was found among their later conceived

children, or found in the later conceived children of cancer survivors who had

previously received radiotherapy. The surviving women of Hiroshima and

Nagasaki who were able to conceive, though exposed to substantial amounts

of radiation, went on and had children with no higher incidence of

abnormalities/birth defects than in the Japanese population as a whole.

2. Classification of Congenital Disease

a. Primary Abnormality

Defect (genetic anomaly) in the structure of an organ or a part of an

organ that can be traced back to an anomaly in its development (spina bifida,

cleft lip, congenital heart defect).

b. Secondary Abnormality (Disruption)

Interruption of the normal development of an organ that can be traced

back to outer influences. Either teratogenic agents (infection, chemical

substance, ionizing radiation) or a trauma (amniotic bands, which led to an

amputation) are involved.

The most widespread infectious agents are the rubella virus, the

cytomegaly virus and the toxoplasmosis parasite (toxoplasma gondii). To the

chemical, teratogenic agents belong thalidomide, warfarin, chloroquine

(malaria medicine) and lithium.

c. Deformation

Anomalies that occur due to outer mechanical effects on existing

normal organs or structures.

d. Dysplasia

Abnormal organization of the cells in a tissue (e.g., osteogenesis

imperfecta). Numerous dysplasias are genetically caused (e.g.,

achondroplasia).

e. Agenesia

The absence of an organ due to a development that failed to happen

during the embryonic period.

f. Sequence

When one, single factor results in numerous secondary effects, leading

to several anomalies, one speaks of a sequence (e.g., Potter's sequence: not

enough amniotic fluid because urine was not produced in large enough

quantities. This leads to an oligoamnios. The fetus is crushed, the face is

contused, the hips are shifted, and the lungs are smaller than normal

[hypoplasia]).

g. Syndrome

A syndrome comprises a group of anomalies that can be traced to a

common origin (Down syndrome occurs due to a trisomia of the 21rst

chromosome and leads to a number of characteristic anomalies).

CHAPTER III

CLOSING

Conclusion

1. Congenital disorder is abnormality of structure and, consequently, function

of the human body arising during development. This large group of

disorders affects almost 5 percent of infants and includes several major

groups of conditions.

2. Congenital disease can be caused by toxic substances, infection, lack of

nutrition, physical restraint, genetic, maternal age, hormonal factors,

unknown multifactorial, and role of radiation.

3. Congenital disease classified into some classification, which are: Primary

Abnormality, Secondary Abnormality (Disruption), Deformation,

Dysplasia, Agenesia, Sequence, and Syndrome.

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