The territory closed with an infant mortality rate, due to this type of defect, of 0.9 per thousand live births, the same as the country. For the fourth consecutive year, Villa Clara is among the most outstanding provinces in the country in the various Medical Genetics programs.
This time, it shared the recognition with Pinar del Río, Sancti Spíritus, Matanzas and Santiago de Cuba, according to the verdict of the National Center for the specialty in its recent balance sheet. Dr. Liset Caridad Lara O ‘Farrill, specialist in Clinical Genetics, master in Public Health, and director of the Provincial Genetics Center, said that the territory closed with an infant mortality rate, due to this type of defect, of 0.9 per thousand live births, the same as the country.
This represented only four deaths (12.9%) compared to the total accumulated by other causes in children under one year of age in the provincial statistics.
The evaluation took into account the behavior of the programs included in the Genetics Network and those linked to prenatal diagnosis, in which the majority of the subprograms closed with a coverage greater than 98%, including the diagnosis of sickle cell anemia, other congenital defects through the detection of alpha-fetoprotein in maternal serum, and those focused on neonatal screening. Dr. Lara O’Farrill emphasized that the work is supported by a system aimed at the prevention, treatment and detection of congenital defects and genetic diseases.
For this, in addition to the contribution of the 30 workers of the Villa Clara department, the Genetics network established in the province through the municipal centers of the specialty is necessary. «The specialties that contribute to our work are of vital importance, such as cardiopediatrics, with a notable weight, obstetrics, neonatologists, neurosurgeons, neonatal surgery, urologists and the support of primary health care».
During the period evaluated, 39 pregnancies were interrupted due to congenital defects attributable, most frequently, to irregularities associated with the central nervous system (CNS), followed by chromosomal abnormalities, some of which could lead to Down syndrome, and those caused by oropouche and its association with fetal defects of the CNS according to studies carried out in Latin America, although case-control tests are still needed to confirm the verdict.
If there is one thing that Dr. Liset Lara always insists on, it is the performance of ultrasound during the first trimester of pregnancy, regulated between 11 and 13.6 weeks, because outside this period the measurements do not show utility or reliability.
«We are not satisfied in this aspect because almost 8% of women miss this ultrasound with all the markers that are predictive for chromosomal diseases linked to hereditary material». Villa Clara concluded last year with a truly complex stage motivated by the lack of reagents and supplies necessary in a very expensive specialty.
«We have had a shortage of important lines at the laboratory level, but we rely on other variants such as imaging, in order to detect congenital defects, specifically with prenatal ultrasound». Although these diseases have a high hereditary component, the environmental impact cannot be ruled out.
The genetic part is not modifiable, whether it comes from the father, the mother, the family, and preventive work has an impact on this, says Lara O’Farrill. «Research carried out in our center by Dr. Noel Taboada reaffirms the importance of using folic acid before pregnancy.
The incidence of its lack in neural tube closure defects has been demonstrated, without overlooking some types of congenital heart disease, or in other chromosomal aberrations, so it is necessary to act on the risk factors. The behavior of chronic non-communicable diseases must be taken into account, and self-medication must be avoided, since the critical period for the appearance of malformations is between the third and eighth week of pregnancy.
With a group that does not look at the clock to finish its day, who often at night or in the early morning are waiting for a certain case, the Provincial Center of Medical Genetics and the municipal departments, together with their collaborators, march in the desire to be useful and to contribute to life.
Source: www.vanguardia.cu
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