- The hospital center, in collaboration with its Torrellano laboratory, performs tests in cases of couples who suffer repetitive pregnancy losses or a fetal anomaly is diagnosed
Suffering an abortion is one of the most traumatic experiences that a couple can go through. In most cases you never know what caused it, because detailed tests are not carried out to get to the causes. The woman and her partner are always like this with that question of why she has touched them. And what usually happens next, there is the fear of whether it will happen again in the event that the woman becomes pregnant again. Genetic diagnoses are made in private clinics, but it is not so common in public hospitals. In Elche, the Hospital del Vinalopó, public but privately managed, it has launched a genetic counseling circuit to establish the causes that may have caused an abortion. The hospital, next to the laboratory of the health group, Ribera Lab, located in Torrellano, has started this multidisciplinary genetic counseling which allows obtaining information from prenatal and preconception genetic tests to find out what has caused the pregnancy loss or a fetal anomaly.
Thus, in cases of couples who suffer repetitive miscarriages or in which, once conception is achieved, a fetal anomaly is diagnosed, specialists start this counseling circuit by carrying out genetic studies. "When there is a genetic or genomic finding This circuit will always be activated, in the hospital the cases are detected and the samples are taken, which are sent to the laboratory for analysis, with the collaboration between clinicians and geneticists, because it is useless to carry out a genetic test without a professional interpreting the information that is taken from the results obtained», explains the specialist in genetics from Ribera Lab Mercedes Navarro. Many patients, she acknowledges, fear genetic testing, but in reality it is an effective and sensitive tool for prenatal diagnosis.
Phases
The communication process involved in genetic counseling is structured in two phases. Firstly, multidisciplinary genetic counseling is carried out on the cases proposed by the research team. Gynecology and Obstetrics, with which it is determined what type of genetic studies should be carried out in the event of a suspected diagnosis or ultrasound finding. Once the sample has been analyzed in the laboratory, a consensus is reached with the clinical interpretation of the genetic test, a discussion about the risks, and established tracking options that should be offered to the patient.
In the second phase, the Genetic Counsel "translates" the results so that they are accessible and understandable by the patients in order to be able to jointly make decisions about clinical and therapeutic actions, and the risk that a genetic condition can be repeated in a new pregnancy and the options available. "Genetics allows us to know some causes of why a pregnancy does not come to fruition or does not reach term, and observing a genetic problem in the fetus can reflect the carrier status of some parents," explains Navarro. Knowing this information, she adds, technology offers different options that allow avoid a genetic cause in a new pregnancy.
It is advisable to consider whether there is a family genetic load before the gestational desire and thus carry out a preconception study to study the risks of recurrence in the event of a new pregnancy. "Some dads may carry some chromosomal abnormality or genomic variant without knowing it, and their offspring may inherit some imbalances." With all this clinical information, the hospital and laboratory professionals anticipate the clinical context, which also raises ethical issues that are analyzed and addressed in this circuit.
In this way, the objective is sought is to help the couple to make their decisions in an informed, free and responsible manner, resolving their doubts. In the prenatal counseling circuit, the biological interpretation of genetic data is implemented in the most precise and rapid way possible, which allows for improved diagnostic performance. For his part, in the case of the preconception counseling circuit, the process begins by informing the couple with fertility problems or repetitive miscarriages what kind of repercussions the genetic load of the sample analyzed has for their future offspring. At the same time, it makes it possible to detect other carriers in the family, understand the mode of inheritance of a genetic condition, see other factors of infertility and discuss the best options in the face of a future gestational desire.
Emotional Support
The genetic counseling circuit also offers accompaniment and emotional support to patients to facilitate understanding and comprehension of the information they receive since, on occasions, it can be difficult to emotionally manage news about their present or future health, or that of their loved ones. relatives. «We talk about personalized medicine, but we go much further since, thanks to these genetic tests, we carry out a 'cascade screening' that allows us to discover genetic factors and anticipate possible health risks that may occur in the family, or in their future offspring”, explains the cytogeneticist at Ribera Lab.
