CONGENITAL DISEASEPresented By: Farid Ma`ruf Ridho Muharrom

WHAT IS CONGENITAL DISEASE?

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).

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).

WHAT FACTORS THOSE CAN CAUSE CONGENITAL DISEASE?

TOXIC SUBSTANCES

Drug use during pregnancy can have temporary or permanent effects on the fetus.

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. The human embryo or fetus is relatively susceptible to impact from adverse conditions within the mother's environment.

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INFECTIONA 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.

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LACK OF NUTRITION

Nutrition and pregnancy refers to the nutrient intake, and dietary planning that is undertaken before, during and after pregnancy.

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.

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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.

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GENETIC CAUSES

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.

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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.

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HORMONAL FACTORHormonal 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.

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UNKNOWN MULTIFACTO

RIALAlthough 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.

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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.

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WHAT ARE THE CLASSIFICATIONS OF CONGENITAL DISEASE?

1. 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).

2. 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.

3. DEFORMATION

Anomalies that occur due to outer mechanical effects on existing normal organs or structures.

4. DYSPLASIA

Abnormal organization of the cells in a tissue (e.g., osteogenesis imperfecta). Numerous dysplasias are genetically caused (e.g., achondroplasia).

5. AGENESIA

The absence of an organ due to a development that failed to happen during the embryonic period.

6. 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]).

7. 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).

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