What are the most common genetic syndromes during pregnancy?

If you talk about it genetic syndromes in pregnancyIt may be that we don’t really know what it is, but – with almost no risk of being wrong – everyone would recognize what Down syndrome is, the most common of which.

There are many more like it Turnersyndrome of Patau and the syndrome Edwards. In most cases, genetic syndromes are detected after birth, but because health technology has evolved significantly in recent decades, prenatal testing can detect the risk of the unborn child having one of these syndromes.

What are genetic syndromes?

To understand this you need to understand that it is a syndrome. According to the definition of the Royal Spanish Academy, it is a set of symptoms characteristic of a disease or a certain state, or different signs or phenomena that reveal a generally negative situation.

In the case of pregnancy syndromes we talk about diseases of genetic origin. These can produce changes in physical and behavioral development and even intellectual disabilities, usually as a direct result of an alteration in genetic material.

From this it follows that it is any genetic alteration that modifies the maturation process of the nervous system and which can reflect on the psychomotor and cognitive development of the child.

But why does this happen? A metaphor could explain it genes are like building blocks of the genetic heritage transmitted by the father and mother and which contain the DNA to build proteins and ensure the correct functioning of our organism.

Proteins move molecules from one place to another, and if these instructions fail, disorders and diseases which will vary in severity depending on the gene affected.

Some of the genetic syndromes during pregnancy

We have already talked about Down syndrome or trisomy 21, the best known, which occurs in approximately one in 700 births. According to the Mayo Clinic in the United States, “it is a genetic disease that occurs when abnormal cell division produces a extra copy of all or part of chromosome 21”.

That is, it is caused by an error in cell division during the development of the fetus which causes developmental changes. Its degree varies from individual to individual and can cause intellectual disability and developmental delays. It also often causes other medical abnormalities, such as digestive and heart disorders.

Another of these is Turner syndrome, a pathology which also has its origin in the alteration of the number of chromosomes. It affects only women and occurs when a chromosome X (sex chromosome) totally or partially. It can cause a variety of health problems, from failure to develop the ovaries to heart problems.

Edwards syndrome (known as trisomy 18) is also an alteration in the number of chromosomes characterized by the presence of an additional complete chromosome in pair 18. This rare disease is characterized by the short life expectancy of the child.

Finally, Patau syndrome (trisomy 13) is caused by the presence of a third chromosome in pair 13. The life expectancy of this disease is also very low. Both trisomy 18 and 13 are much less common than Down syndrome, but more serious.

Factors that can influence pregnancy

• Family history of a disease or genetic abnormality.
• Illness or health problem before pregnancy, such as diabetes.
• The mother is over 35 years old.
• Multiple pregnancy.
• Exposure to any known risk factors.