CAMAGÜEY.- By congenital defect is understood any alteration in morphology, say the structure or function, that may appear from birth and does not necessarily have to be diagnosed at the time of delivery.

“An example of this is a person who has a heart attack at 50 or 60 years old and an ultrasound study shows that he was born without a kidney. It is a congenital defect because it was present from birth, however it was not diagnosed at that time ”. On this, and other topics, we spoke with Dr. Rosalaris Arrieta García, specialist in clinical genetics.

"An abnormality of the structure also causes functional disorders that may be evident after birth and it does not mean that it is secondary to that structural abnormality because the function it performs is not at that age when it can be seen."

-How are congenital defects classified?

-In terms of their magnitude, they can be major or minor depending on the degree of clinical severity between them, the cosmetic or aesthetic consequences, the functionality, the disability that it may bring in individuals, the commitment to the lives of the people who they have it, among other factors.

“The major ones are the least frequent and appear from 2 to 3% of all births, while the minors represent 10 to 15%. The fact that it is minor does not diminish its clinical importance, since a person who has more than two minor congenital defects must inexorably search for a major congenital defect that can be markers of a compromising health situation ”.

-Can you give us examples of both cases?

-An example of a major congenital defect would be congenital heart disease that requires surgical treatment or rehabilitation interventions that compromise the ability of individuals because they limit their participation in activities. In addition, cleft lip or palate, abdominal wall closure defects that require this type of surgical invention, invasive treatments that can compromise the life of the patient and leave sequelae in the body.

"Minor congenital defects are those that do not have great implications from a surgical or functional point of view and that the patient is not limited in the development of life or has repercussions from a clinical point of view."

-What are the strategies to treat these pathologies in a timely manner?

-The genetics network has drawn up two strategies fundamentally aimed at prevention and early detection. The first in the prenatal stage with the diagnosis of congenital defects that begins with the consultation of the recruitment of pregnant women, where the genetic risk is evaluated and it is about looking for and discerning the factors associated with the appearance or occurrence of these defects. They are studied with ultrasonography every trimester, and in the case of high-risk couples, with genetic tests.

“With the cytogenetic prenatal diagnosis, we determine in this genotype any numerical or functional alteration that may have an effect and result in the association of a minor or major congenital defect.

“Furthermore, cytogenetic studies allow us to detect this type of disease as well as molecular studies; other more specific ones are made in the determined group of pregnant women who, due to their family or personal genetic risk, warrant it, since they are high-risk invasive procedures.

“For the postnatal evaluation it is established that every newborn in the first three months of life attends the genetic evaluation consultation in the health area. This consultation is made by medical professionals who belong to the genetics network, trained to detect this type of defects or anomalies.

"According to the result of the evaluation there, if necessary, they have a review here in the provincial department of genetics where the evaluation is carried out by the clinical genetic specialists to establish the diagnosis of a genetic malformation syndrome or a nonsyndromic genetic defect.

“In this case, to know if it is an isolated event, it takes what is known as genetic counseling in its follow-up; a communication process on human problems that have to do with the occurrence and recurrence of genetic diseases, in this case we refer to congenital defects.

"In the family in this communication process that also arises as a result of multiple consultations, we assess the risks that these people may have that triggered the presence of the congenital defect, what is the probability that this will happen again and what prevention measures should be taken" .

-When do these defects usually appear?

-In the period that occurs after the fusion of the ovum with the sperm, elapsing up to 12 weeks of gestation. It is the stage where there is greater formation and differentiation of organs, this is what is most evident in the medical literature and what the population knows in general.

“However, more recent studies show that although it is the time period for the formation of the greatest number of organs, the central nervous system remains in formation throughout pregnancy. Therefore, saying that I have passed the first trimester, ruling out the risk and exposing oneself to a certain toxic agent is not really recommended, since vulnerability continues in all the complex processes of formation and maturation of the central nervous system, some of which continue even up to the second decade of life ”.

-What would be some of the environmental or toxic agents that negatively influence this stage of a woman's life?

-In the case of drugs that can be teratogens, antiepileptic drugs are known. Epilepsy is not an uncommon disease in the population, especially in those of childbearing age, and sometimes epilepsy treatments are not monotherapy, but combination therapy, several antiepileptic drugs are combined, and there we have a double effect: the synergism that these produce due to their characteristics and the condition of the drug that influences the metabolism of folic acid. Folate deficiency is a high risk factor for birth defects.

“There are diseases of the maternal metabolism such as diabetes, obesity, some autoimmune diseases such as systemic lupus erythematosus that produces cardiovascular conduction disorder.

“They also attack some habits like alcohol. This produces such a large procession of clinical manifestations that it has been called the fetal alcohol spectrum where the most serious of clinical expression would be the reproduction of countless congenital defects such as neurofunctional malformations ranging from intellectual disability, attention deficit, disorder of attention with hyperactivity ”.

As is the case in the world, in Camagüey the pathology with the greatest clinical representation is congenital heart disease. There is a very well designed program so that these pathologies do not occur without specialized health care. However, for Dr. Rosalaris the key is planning.

“We have qualified human resources and technological means at hand. But we still suffer from a perspective from the prevention and self-responsibility that the family and the couple may have when assuming or looking for a pregnancy.

“The fewest number of couples reach the most important places: the family planning and preconception risk consultations that are located in each polyclinic. There they are trained to support future parents so that there are far fewer cases that face this situation. It even helps us so that couples who need it we design a strategy according to their individual characteristics in the preconception period with personal and family history.

"If you ask me, the best tactic to prevent birth defects starts at home."