We have talked about diseases and disorders of genetic origin and we will continue talking about them. And that ise genetics and knowledge of genes and chromosomes Human has advanced tremendously. In the amniocentesis that is carried out in pregnancy to many women, it is precisely this type of problem that is sought to be detected but also, when the child is small, when it is found that its development is different or slower than that of other children, it can be done It is necessary to rule out genetic diseases.
For this reason, since it can produce great restlessness and fear of ignoring what is happening to our son, we will try to explain clearly what genetics is and how it works.
What are genes and chromosomes?
Genes and chromosomes They are the basic components of life. Humans usually have 30,000 genes, distributed in 23 pairs of chromosomes that lodge in each and every one of our cells and are all the same as we had in our first cell born from the union of the sperm and the ovule.
The reproductive cells, the mother's ovum and the father's sperm contain 23 chromosomes and these, when united in fertilization, combine, giving rise to a new unique genetic composition, a being different from all those that have existed and will exist, except, of course, that he has an identical twin or that someday human clones are made.
Of our 46 chromosomes, 22 pairs are similar to each other and are called autosomes. Par 23 will determine the sex. Each chromosome is a long sequence of DNA. Our DNA is equal to that of chimpanzees in 98% and that of any other human being in 99.99%. The differences between us are therefore lowercase.
The inherited traits that members of a family share come from the genes that our parents transmit to us, since the genes encode information that will grow the new being with certain characteristics.
Abnormal genes
When a gene is transmitted with a defect the person may suffer from some diseases or disorders of growth, hormonal functioning or mental development. Not all birth problems have hereditary genetic causes but they are identified as causing many natural abortions and affect millions of families.
In some cases the genetic defects they are clearly identifiable as in the cases we have treated of genetic trisomies linked to par 23.
But in others, there is supposed to be a mix of factors that trigger the problem: interaction of the paternal and maternal genes linked to environmental issues. In these cases we still do not know exactly what factors produce this type of defects that, at birth or over time, manifest in problems such as cleft lip, diabetes, brain malformations or tendency to suffer certain types of hypertension or cardiac problems .
Prenatal genetic diagnosis
Today much is known about the human genome and thanks to this, many diseases caused by genes can be detected, both obvious and those of late presentation and slower development. By knowing what the molecular basis of these diseases is, we can take preventive measures, but also, once born, follow up to alleviate the effects of the disease or treat it early.
Thanks to modern technique it is possible to make a prenatal diagnosis of the fetus It is usually done through amniocentésis, which allows us to know the genetic state of the fetus through an analysis of the amniotic fluid in which some of its detached cells float. Sample chromosomes are counted and any abnormal chromosomal structure is sought.
Also, in vitro fertilization, a preimplantation genetic diagnosis, through which the embryos are analyzed genetically to select one that is healthy and be the one that is implanted in the womb. This is especially done in cases where there is a known serious hereditary disease or in which there is a sick brother who can be helped by choosing a compatible embryo.
Conclusion
Genetics and current advances in knowledge of genes and chromosomes They can give us important knowledge about possible problems that our baby has, so, without fear, we will continue to deepen this issue, thinking about giving parents all the information they may need in the face of a diagnosis of genetic abnormalities.
