This paper is talking about the definition of congenital disease, the etiology of the congenital disease, and the classification of congenital disease.

1. CONGENITAL DISEASE
BY:
FARID MA`RUF
RIDHO MUHARROM
MUHAMMADIYAH BANJARMASIN HEALTH COLLEGE
2014

2. 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).

3. 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.

4. 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.

5. 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.
CiptoMangunkusumo 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

6. 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.,
osteogenesisimperfecta). Numerous dysplasias are genetically caused (e.g.,
achondroplasia).

8. 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).

9. 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.

10. References
Racmat, dr., DSOG. (unkown year). KelainanKongenital.
http://www.angelfire.com/ga/RachmatDSOG/congenital.html (accessed at
Wednesday, April 16th 2014, 9:40 PM)
Wikipediawan. 2014. Congenital Disorder.
http://en.wikipedia.org/wiki/Congenital_disorder#Infections (accessed at
Wednesday, April 16th 2014, 12:56 AM)
(Admin). 2014. Congenital Anomalies.
http://www.who.int/mediacentre/factsheets/fs370/en/ (accessed at
Wednesday, April 16th 2014, 12:51 AM)
Wikipediawan. 2014. Drugs in Pregnancy.
http://en.wikipedia.org/wiki/Drugs_in_pregnancy (accessed at Wednesday,
April 16th 2014, 9:16 PM)
M., Optiz, John. 2013. Congenital Disorder.
http://www.britannica.com/EBchecked/topic/132266/congenital-disorder
(accessed at Tuesday, April 15th 2014, 11:47 PM)
Wikipediawan. 2014. Environmental Toxicants and Fetal Development.
http://en.wikipedia.org/wiki/Environmental_toxins_and_fetal_developmen
t (accessed at Wednesday, April 16th 2014, 9:16 PM)
(Admin). (unknown year). 8.7 Embryopathies.
http://www.embryology.ch/anglais/iperiodembry/patholperiod01.html#cla
ssification (accessed at Wednesday, April 16th 2014, 1:15 AM)
Wikipediawan. 2014. Vertically transmitted Infection.
http://en.wikipedia.org/wiki/Vertically_transmitted_infection (accessed at
Wednesday, April 16th 2014, 9:35 PM)
Wikipediawan. 2014. Nutrition and Pregnancy.
http://en.wikipedia.org/wiki/Nutrition_in_pregnancy (accessed at
Wednesday, April 16th 2014, 9:39 PM)