Congenital diseases, also known as genetic defects or genetic defects, are changes that occur during fetal formation during pregnancy, which can eventually affect any tissue in the human body, such as bones, muscles, or organs.These types of changes usually lead to incomplete development, which eventually affects the aesthetics and even the proper functioning of various organs.
Many congenital diseases can be identified from the first 3 months of pregnancy, being diagnosed by the obstetrician during the prenatal period or by the pediatrician during the first year of life, however, there are also cases in which genetic impairment affects subsequent abilities, such as speaking or walking, or that require very specific tests to be identified and then diagnosed.
- In the case of very serious congenital diseases that impede the survival of the baby.
- A miscarriage can occur at any time during pregnancy.
- Although it is more common during the first half of pregnancy.
Congenital diseases can be caused by genetic alterations or by the environment in which the person was conceived or generated, or by the combination of these two factors, some examples are:
Chromosome changes in number, such as down 21 syndrome, commonly known as Down syndrome, mutant genes or changes in chromosomal structure, such as fragile X syndrome.
Some changes that may cause a birth defect include the use of medications during pregnancy, cytomegalovirus infections, toxoplasma and treponeme pallidum, radiation exposure, cigarettes, excess caffeine, excessive alcohol consumption, contact with heavy metals such as lead, cadmium or mercury, for example.
Birth defects can be classified according to their type
The signs and symptoms of a genetic malformation are generally classified according to the syndrome causing the specific defect, some are more common such as:
Your doctor may identify a change during ultrasound during pregnancy by looking at the baby’s appearance at birth or by observing certain characteristics and after the result of specific tests.
It is not always possible to prevent a birth defect because changes can occur that are beyond our control, but performing prenatal care and following all medical guidelines during pregnancy is one of the precautions that must be taken to reduce the risk of fetal complications.
Important recommendations include not taking medications without medical advice, not consuming alcoholic beverages during pregnancy, not using illicit drugs, not smoking, and avoiding being near places where smoking cigarettes, eating healthy foods, and drinking at least 2 litres.water per day.