What are congenital diseases?

What are congenital diseases?

Congenital diseases are diseases present from birth. They originate from a congenital anomaly or malformation. Congenital diseases are listed. They entail personalized care for the patient for all or part of his life. These pathologies are also the subject of numerous studies.

Congenital diseases: definition

A congenital disease is a pathology that affects a person from birth. It can be an inherited disease although the origin of the congenital disease is not automatically genetic. Indeed, a congenital disease can be transmitted by one of the two parents. It can also be contracted during pregnancy. In this case, it is a so-called acquired congenital disease.

The causes of congenital diseases are very numerous. These pathologies can be caused by taking medication, drugs or alcohol. They can have genetic causes or be linked to prolonged exposure to substances harmful to health. Finally, the pathologies of the mother during pregnancy can result in a congenital disease.

Toxic causes of congenital diseases

We talk about toxic causes when a congenital disease is linked to the consumption of alcohol which causes heart defects, to the taking of drugs such as cocaine or even to the exposure of dangerous substances such as pesticides.

The use of drugs is also a toxic cause of congenital diseases. Certain drug treatments like thalidomide and distilbene are known to be very dangerous for the fetus.

Genetic causes of congenital diseases

A congenital disease can have a genetic origin. This is the case in about one in four cases. Most often, it is a chromosomal abnormality that is the cause of the congenital disease. This can appear at different times during pregnancy. However, most often, congenital diseases occur when the egg is fertilized and when the fetus is developing.

It should be noted that in a large majority of cases it is impossible to know the origin of congenital diseases.

Congenital diseases: the other causes

Other factors are implicated in the appearance of congenital diseases. It could be exposure to radiation. These can occur in people who work in medical imaging or who use rays for professional purposes. This is the case in laboratories and in certain military specialties.

A congenital disease can be caused by a deficiency and more particularly a vitamin deficiency. Lack of folic acid can affect pregnancy. In order to reduce the risk of neural tube defects, supplementation is offered to all women who wish to have a child and to those who have just discovered that they are pregnant.

The age of the mother is implicated in certain congenital malformations. These pathologies are most often cardiac. They are very present in children whose mother is very young (under 20 years old), or on the contrary older (over 30-35 years old).

Finally, it has been shown that the mother’s illnesses can give rise to congenital illnesses. This is the case with diabetes but also with epilepsy which requires heavy treatment.

Treat congenital diseases

There are 1001 ways to treat congenital diseases. It must first be identified through examinations such as radiology, blood tests or samples. It is then necessary to know the seriousness of it and to choose the most adapted treatment. This treatment can be temporary or be prescribed for life. It can be medicinal or multidisciplinary.

When the risk of congenital diseases is proven, specific monitoring is provided during pregnancy. It includes a greater number of ultrasounds but also examinations and screenings. It is highly recommended that mothers-to-be to respect these personalized care paths.

Some examples of congenital diseases

Congenital diseases are different from genetic diseases which are only related to chromosomal abnormalities. They are also distinguished from hereditary diseases which may include chromosomal abnormalities but the main specificity of which is that they are transmitted by heredity.

Among the most well-known congenital diseases are: fetal alcohol syndrome, Down syndrome, anencephaly, cystic fibrosis, neonatal jaundice, schizencephaly, congenital syphilis, situs inversus, cleft lip and cleft palate, clubfoot, etc.

The list of congenital diseases is very long. You should also know that a disease can be congenital and genetic.

Congenital diseases are still the subject of many studies today in order to eradicate them but also to better manage them. When a congenital disease is identified, the patient is optimally supported by specialists in order to overcome the pathology or to better experience the disease on a daily basis.

Rédaction : Health Passport

April 2017

 

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