Probably one of the most sensitive stages of a person’s life is pregnancy, the responsibility of carrying and caring for the life of a person who is totally vulnerable: your child. An anecdote shared by many mothers is that when they see their babies for the first time, they count their fingers and toes. It’s funny, isn’t it?

In the past it was impossible to know the gender of babies before they were born, but the development of science has allowed us to know much more about them (we only need to be able to interview them). Through prenatal tests we can accurately detect pathologies that affect the fetus in order to treat them as far as possible when the baby is born. Prenatal tests are those that are performed on fetuses in order to detect anomalies or malformations. These are often due to genetic alterations, such as Down syndrome or Edwards’ syndrome. I am sure that the veterans of our blog know perfectly well the importance of DNA and how it works. We are going to explain very quickly the theory for the novices (and the most clueless). DNA is a nucleic acid that contains all the genetic information of living organisms, being responsible for hereditary transmission and the development and functioning of living beings. By way of analogy, we could say that DNA is like an instruction manual on which organisms rely to produce everything they need. Therefore, this biological text defines the color of our eyes or the size of our nose, as well as certain diseases associated with misprints or printing errors, genetic anomalies.

Unfortunately, some of these prenatal genetic diagnosis techniques were invasive and could be harmful to the fetus, so they were not recommended in high-risk pregnancies. However, there are non-invasive techniques that do not put the physical integrity of the fetus or its mother at risk. At Life Length we offer prenatal diagnostic tests that by analyzing fetal DNA in maternal blood are able to detect genetic aberrations. Here are the diseases we are able to identify so that you will know everything about your baby when he or she is born:

  • Chromosome 13 trisomy. Chromosomes are grouped in pairs (this does not occur in sex cells) that contain the same type of information, with each human cell having 23 pairs of chromosomes. When any type of chromosome is found three times in the same cell, abnormalities develop in the form of diseases. When there are three “chromosomes 13” in the cell, Patau syndrome develops, which leads to the development of multiple symptoms including heart malformations, intellectual disability or muscular hypotonia (abnormally low muscle tone).
  • Trisomy on chromosome 18. Also known as Edward’s syndrome, this disease produces various malformations that often prevent the fetus from surviving. In addition, people who suffer from it have a high probability of developing certain types of liver and kidney cancer.
  • Trisomy in chromosome 21. Down syndrome involves quite distinctive facial features, mental retardation and various digestive and heart problems, the severity of which varies from case to case.
  • Sex aneuploidies. These are alterations in the number of sex chromosomes, generally presenting an excess (three). The most common are Klinefelter, Jakob and Turner syndromes. The first one occurs with two “X” and one “Y” chromosome. Its symptoms are abnormally large size, mental retardation and infertility. Jakob syndrome (XYY) presents above average height and speech problems, as well as infertility in some cases. Turner syndrome (XXX), on the other hand, causes infertility and abnormally short height in those who suffer from it.

This analysis is also capable of detecting different microdeletion syndromes, i.e., the lack of genetic material in some chromosomes that gives rise to derived diseases. In addition, the fetal sex can be known more reliably than with ultrasound scans, for those parents who want to know.

We have to close the blog by clarifying that all these tests serve for mothers and fathers to know the health status of their future babies. This is done in order to plan treatments as far in advance as possible and improve the quality of life of future babies. At Life Length we offer you the peace of mind that comes from knowing that your children do not have genetic problems and that if they do, you will be able to help them from the first moment of life.

 

Links:

https://www.pediatriaintegral.es/publicacion-2019-07/diagnostico-genetico-prenatal-y-consejo-genetico/ 

https://www.topdoctors.es/diccionario-medico/diagnostico-prenatal 

https://genotipia.com/genetica_medica_news/diagnostico-genetico-prenatal/ 

https://www.pediatriaintegral.es/publicacion-2019-07/diagnostico-genetico-prenatal-y-consejo-genetico/ 

https://www.msdmanuals.com/es-es/hogar/salud-femenina/detecci%C3%B3n-de-trastornos-gen%C3%A9ticos/pruebas-de-diagn%C3%B3stico-prenatal 

http://cegymf.com/index.php/especialidades/embarazo-y-medicina-fetal/en-que-consiste-el-diagnostico-prenatal