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Published: Monday, 04 March 2019 08:01

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Photo: GranmaStart the dialogue with Granma Yudelmis Álvarez Gavilán, Master in Medical Genetics and Assistant Professor of the National Center for Medical Genetics, with whom we discussed the control of preconceptional genetic risk.

«When we hear that congenital defects are one of the causes of infant mortality in children under one year old, it is a known knowledge, it is a constituted science. But if we say that the genetic predisposition of the father and the lifestyle of the father during the preconception stage of the pregnancy may be responsible for the presence of these defects; this will not be so well known, and even less aware of the men and women of the population. "

Despite constituting a solid program and a guarantee for children's health in our country, it still shows insufficient attention regarding the monitoring and control of the male contribution in the conception of a pregnancy. "In this gap, the hegemonic construction of masculinity and fatherhood has a great weight, where the paternal role is often relegated to the background, and man is expropriated from that human space that generates growth and development," she explained. Bachelor of Biological Sciences from the University of Havana.

According to the interviewee, numerous studies have been conducted to identify various causes of congenital defects in humans (chromosomal alterations are considered responsible for 3 to 5%, genetic mutations (20%), environmental agents (4%), infections (3 %), drugs (3%), among others, however, the personal and family pathological background of the woman, her toxic habits, her lifestyles, her genetic predisposition for the defect or disease are taken into account; while the same importance is not given to these same aspects in the father, so there is no impact on the care or follow-up that must be provided to control, modify or eliminate these risk factors in men during the preconceptional stage, the specialist referred.

This is shown by the results of the research Paternal genetic contribution in the presence of congenital defects in the offspring, which included a universe constituted by the 80 couples that in the province of Artemisa, during 2017, had a diagnosis of congenital defects in their offspring; of which only 54 couples met the inclusion criteria to participate in the investigation, because the parents could not be located in the remaining 26.

"Among congenital malformations, neural tube closure defects (NTDs) occupy a special chapter because of the implicit damage to various structures of the nervous system, which makes them commonly incompatible with life. 66.66% of the fetuses with NTD had parents or family members also affected, while only in two of the mothers were antecedents of these anomalies ", exemplified the professor and one of the authors of the investigation.

Even when all the couples in whose offspring NTDs were detected prenatally decided the voluntary termination of pregnancy, so there were no deaths under one year for this concept, it is necessary to understand that for the country, for Medicine and for Cuban families, It is much better to prevent the birth of an affected child from the preconceptional stage, than to go through the traumatic process of interrupting a pregnancy, including the medical complications that this may imply for the mother's health, she said.

On the other hand, according to the Master's Degree in Medical Genetics, the existing genetic predisposition of the father was worsened, since the women involved did not consume folic acid in the preconceptional stage either.

It is valid then to emphasize that the consumption of a milligram of daily folic acid, both maternal and paternal, at least three to six months prior to gestation - stage in which the conception of a pregnancy is being planned - could have prevented the occurrence of these fetal anomalies.

In a specific case, whose offspring presented bilateral renal agenesis (absence of both kidneys), it was also discovered that the father had a unilateral renal agenesis undiagnosed up to that moment.

"The cause of the non-detection was due, according to the patient's own reference, to the fact that he does not usually go to the doctor for any discomfort and with a single kidney he has lived well until now. Likewise, at the time of care, she was 48 years old, so in the prenatal stage there were no current advances in maternal and child care, "revealed Álvarez Gavilán.
"The undervaluation of male influence in the phenotypic expression of a new being causes the loss of opportunities to prevent these conditions, even when the evidence shows that 20% of the cases studied could be followed with another approach, if these arguments had been identified in the preconceptional stage and would have been assessed as predictors of risk, "he said.
By not doing so, the options of preventive actions offered to the couple during genetic counseling were limited.

TO GUARANTEE A HEALTHY PREGNANCY
• Plan pregnancy at appropriate ages.
• You and your partner take folic acid at least three months before pregnancy in a dose of 1 mg, the woman should continue to consume it during pregnancy, mainly in the first 12 weeks.
• Avoid unhealthy lifestyles, ensure a balanced diet, do not smoke and do not consume alcoholic beverages.
• If you are planning a pregnancy, ask your doctor about the need to take medication. Ensure that this does not constitute a risk to your future child.
• If you are a carrier of a chronic noncommunicable disease (diabetes, hypertension, epilepsy or obesity), go to your doctor to ensure that you are compensated for it and ensure the effective modification of the treatments you consume.
• Remember, always before conceiving pregnancy, both partners must attend preconceptional risk and genetic counseling.

(Granma)

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