Radio Havana Cuba | Sancti Spíritus Medical Genetics Center: Diagnosis for life (+Photos)

By Arelys García Acosta*

The tender hand slides from side to side over the belly and you can almost hear what was said in a whisper: “Son, be patient, we’re almost there!” The 33rd week of pregnancy passes for the young María Elba Chirino Cabrera, who, since the 23rd, has been attending the Provincial Center for Medical Genetics, in Sancti Spíritus, where she claims to have found a safe harbor to dispel several of her fears.

“I was referred by my health area,” says María Elba; I have a diagnosis of Retarded Intrauterine Growth, and I have had several studies done. The amniocentesis test was negative and I am progressing well. “I am grateful for so much care.”

In more than one revealing testimony, the essence of this institution remains, in which the threads of salvation are woven before and after each birth.

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This care unit, which has been created for more than three decades, offers more than 2,000 medical consultations annually, where pregnant women, mothers and newborns receive care, in addition to evaluations of genetic diseases in families; functions, for the most part, linked to the Maternal and Child Care Program (PAMI).

“This is a reference center,” said Dr. Miguel Rodríguez Vázquez, second-degree specialist in Clinical Genetics and head of the institution. Patients are referred here from the municipal health services, regardless of the fact that it is open to the attention of anyone with any concern related to the specialty of Genetics.

“Several consultations operate: one for delayed intrauterine growth, carried out in coordination with Obstetrics and Gynecology specialists; that of Clinical Genetics and that of Prenatal Diagnosis; The latter accounts for 70 percent of the cases. “Any pregnant woman with some type of alteration related to the development of the fetus is referred to our services,”

According to Rodríguez Vázquez, the group works scientifically, and, when an evaluation is necessary in a national reference center, the patient is transferred; For example, to the William Soler Pediatric Cardiocenter, in Havana, if there is suspicion of congenital heart disease, or to the Ramón González Coro Gynecobstetric Hospital, key in the country in the diagnosis of congenital malformations.

“Every study focuses on fetal and maternal health,” explains Dr. Martha Isel Díaz Díaz, a first-degree specialist in Comprehensive General Medicine and with a diploma in Obstetric and Prenatal Ultrasound. “Through ultrasound examination, studies of congenital malformations in the fetus are carried out, also to determine the risk of suffering from chromosomal diseases through ultrasound markers.

“Likewise, problems are diagnosed at the mother’s level, which can trigger preterm labor; Alterations of the gynecological system are also investigated: uterine fibroids, ovarian cysts and other conditions that coexist with pregnancy. Added to this is the identification of the risk of the fetus suffering from growth retardation,” exemplifies Díaz Díaz.

Researchers also delve into the labyrinth of genes,” says Pedro Luis Carbonell de la Torre, principal specialist at the Cytogenetics Laboratory. At the institution, prenatal cytogenetic diagnoses are performed (establishes chromosomal aberrations), postnatal cytogenetic diagnoses and hemoglobin electrophoresis; in this case to determine the presence of sickleemia or its carriers. Also, blood samples are taken for prenatal and postnatal studies at the National Center for Medical Genetics.

Thanks to the aforementioned studies, which are central to research and medical care, in 2023 Sancti Spíritus achieved an infant mortality rate due to congenital malformations in children under one year of age of around 0.6 deaths per 1,000 live births; figure below that reported in the country of 0.7 and with a behavior similar to that of previous years.

COMPUTER APPLICATIONS, SCOPES IN GENETIC CARE
Talent and science have been put to work for pregnant women from Sancti Spiritus, emphasizes Dr. Rodríguez Vázquez, who praises the impulse given since 2009 by the Provincial Center for Medical Genetics to the development of computer applications related to Genetics care and the Program. of Maternal and Child Care in the territory.

“They are irreplaceable work tools due to the scope they have had in the management of the PAMI and in the work of the medical group that works in this center and in the municipalities,” says the specialist.

At the institution, prenatal cytogenetic and postnatal cytogenetic diagnoses are performed, as well as hemoglobin electrophoresis.

“We are talking about the Longitudinal Care System for Pregnant Women and Neonates (SALGEN), with an increase in recent years in the obstetric services it offers as software; There is also the Preconception Evaluation System, used in Primary Health Care, and the birth registry, used in maternity hospitals.

“It is a compendium of computer applications closely linked to each other, which truly humanize the work of all the specialists who work at PAMI,” highlights Dr. Miguel Rodríguez.

Designed by specialists from the Provincial Center for Medical Genetics and the Software Production Company DESOFT, SALGEN allows, in a very dynamic way, to link all the information arising during the monitoring of pregnant women and newborns in the territory.

According to its creators and geneticists, specific actions can be centrally evaluated taking into account the database of consultations and genetic tests, archived on the servers, and a decision can be made in the event of any type of irregularity.

This novel method also guarantees personal interrelation between all those involved in the work system and enables the speed of knowledge of the references given in the provincial center.

SALGEN, implemented in the care areas of the eight municipalities of Sancti Spiritus, in addition to establishing necessary health actions and working with a preventive approach, creates valuable statistical bases to undertake high-level medical research.

Mentioned in the 2010 Annual Health Award, the aforementioned project has been presented in several Science and Technology Forums and at the VIII International Congress of Health Informatics, within the framework of the 2011 Informatics Convention and Fair, in Havana.

“This experience, evaluated by several provinces, has been considered to extend it to other territories; although it has not been achieved yet,” Rodríguez Vázquez finally points out.
The creation in 1993 of the Sancti Spíritus Provincial Center for Medical Genetics responded to the strategy of the historical leader of the Cuban Revolution, Fidel Castro, aimed at reducing infant mortality to the minimum possible and at the early detection of various diseases.

Since then, this center has had stories told by more than one mother, such as the one who during her pregnancy was notified of a suspicion of aortic coarctation in fetal life. Under strict medical follow-up, which included studies in specialized institutions in Havana, the child came into the world; Three months later the diagnosis was confirmed and he underwent opportune surgery. He is already 15 years old.

*Radio Havana Cuba correspondent in Sancti Spíritus