Scientists who study genetics study genes and inheritance: how certain characteristics are inherited by descendants because their parents had them. Do you have the same color of eyes as your mother or your father? There are twins in your family? Those features or features are inherited.
They are transmitted from your parents to you through genes. The genes contain the DNA that occupies a specific place on the chromosomes. DNA determines a specific trait in the organism. Even the fact that you were born child or girl was determined by genes. The DNA is at the core of each cell. When a baby is formed, a father's cell joins one of the mother.
That tiny cell contains all the information stored in the DNA to make a new person: You! If you are a child, you have received your father's DNA that contains a chromosome " Y "
If you are a child, you have received your father's DNA containing a chromosome " X " Your mother can only give you a X chromosome. Girls have two chromosomes " X " and males have a chromosome " X " and one " Y " The information contained in the DNA who inherited from your parents also determined what color of eyes you would have, the color of your hair, the type of lobes of your ears and that you can or do not roll up your tongue.
When consulting a geneticist?
The birth of a child with some kind of anomaly in his development determines an impact that affects his family and also to the health team. Depending on the severity of the defect present, the mobilization of different professionals occurs in order to meet their needs, starting the appropriate mechanisms to achieve an accurate diagnosis and finally provide a treatment that does not always involve their healing, but it allows us Guide your follow-up with rehabilitation techniques, which ultimately facilitate your family and social integration.
Among the professionals who participate in this process are the genetician doctor.
The proposal by the obstetric, neonatologist or pediatrician of the need for interconsultation with this professional always generates concern and uncertainty. What does my son have? Why it happened? Can he repense again?
And it is precisely in the answers to these questions where the definition of medical genetics is framed.
Genetics is a branch of medicine whose purpose is the diagnosis (responds to what does it have?), Advice (can it happen again?), Prevention (Can we avoid it?) And eventually the treatment ( What can we improve?) Of congenital defects and hereditary diseases with an intervention that is not only individual, but familiar and eventually population
What are congenital defects?
Congenital defects are the clinical expression of many genetic diseases. We define them as any anomaly of the present development at the time of being born, being morphological (anatomical) or functional, unique or multiple, inherited or of isolated or sporadic presentation. They occupy an important place within the diseases that affect the newborn, because of its frequency, by the repercussion of growth and development, and by its functional, aesthetic, psychological and social impact.
It is important to clarify two concepts: not everything congenit is genetic and not everything genetically is hereditary or inheritable.
The causes of a congenital defect can be genetic or environmental, existing, in most cases, an interrelation between both. Genetic causes have to do with the presence of an alteration of genetic information present in our cells, whether it affects the number or structure of the chromosomes (expression visible to the microscope of that genetic information), is the result of an alteration in The structure of the genetic material, this is in the DNA molecule, called mutation or the resulting of the interaction of several genes in summation with environmental factors. Some of these alterations are the result of a failure in the biological mechanisms of cell division and tend to be sporadic.
Others, they have the peculiarity of transmitting to the offspring in different ways and can be evident when elaborating a family tree where the way the mutation of a gene is observed in a family.
Among the environmental causes of congenital defects, biological factors such as rubella virus, physical, such as temperature and radiation and chemicals among which are some medications that are often exposed without knowing their harmful effect About embryonic development.
Diagnosis
The development of the technology applied to the care of the pregnant woman today allows the visualization of anomalies of fetal development that faces the diagnosis of certainty a genetic disease or the identification of alarm signs during the prenatal stage. These techniques allow us to advance more and more in the early diagnosis and enable preparation to the pregnant patient, to the family of it and the treatment team for the reception of a child that will require the evaluation and immediate post-natal attention.
The diagnostic process of congenital defects is not easy, but it is very important for the care and monitoring of these patients as well as in the proposal of a prognosis and risk of recurrence, which involves not only the affected child but Also to his family. This process involves the use of clinical tools, complementary examinations and specific genetic studies to bring together all the elements that allow obtaining correct information.
After birth, the intervention of the specialist, through a neat anamnesis and a detailed and detailed physical examination, will bring valuable elements when defining diagnostic and therapeutic behaviors. The objective is the research of greater and minor anomalies as indicators of an alteration in normal development.
Prevention
Historically it was linked to congenital defects such as & ldquo; inevitable “, however, it is currently considered that an important percentage may not have occurred, raising the specific possibility of preventing development defects.
Planning of pregnancy, preconceptional obstetric consultation, maternal disease control, non-exposure to harmful factors and adequate monitoring of pregnancy constitute the first prevention measures.
Facing the diagnosis of a fetal anomaly It is also possible to avoid greater damage and prevent sequelae through measures of clinical, therapeutic or surgical action.
Genetic counseling
It consists in informing patients or couples about the risks of appearance or recurrence of genetic diseases, as can be prevented. If the genetic disease or malformation is present, which is natural history and which preventive, diagnostic and therapeutic options or rehabilitation that improve the quality of life of the patient and also from the family of it.
Your objectives are:
- Facilitate the making of medical and reproductive decisions of patients who face genetic risks, and that better respond to their expectations, culture and needs.
- Contribute to the health and well-being of individuals and families who consult by genetic problems.
- Set or confirm a diagnosis.
- Interpret the risk and communicate it to the couple in clear terms.
- Help the couple in the assessment of that risk.
Who are the couples or people who could benefit from the genetic counseling consultation?
- have concern about a genetic disease.
- get pregnant after 35 years.
- already have a child with congenital defect.
- who have lost 2 or more pregnancies.
- Ultrasound demonstrates fetal anomalies or risk signs of chromosomal anomaly in the fetus.
- Exposed to drugs, medicines, maternal diseases or other environmental factors that create can affect the fetus.
In short, genetic advice aims to help patients to understand and face eventual or real genetic disease by which they consult and according to their own cultural, religious and moral conceptions decide diagnostic, therapeutic or reproductive options. < / p >.
