Down Syndrome

Among chromosomal pathologies, a special place is occupied by Down syndrome, one of the most common genetic disorders in newborns. Its main cause is a random genetic mutation, as a result of which a third extra chromosome appears in the 21st pair of chromosomes. The frequency of the phenomenon is approximately 1 case per 600-800 babies. A random mutation leaves its mark on the appearance of the child already at the stage of intrauterine development, which greatly facilitates the diagnosis of Down syndrome by ultrasound.

The main causes of occurrence

Modern medicine names two causes of the disease at once:

Mother’s age. This is the main risk factor for Down syndrome. The older the pregnant woman, the higher the risk of having a child with a random genetic pathology. At the age of 30-40 years, the risk of a genetic failure is 1/1000, after 42 years – 1/60. The main factor is the aging of eggs, which are laid during the prenatal development of a girl and gradually lose their ability to form a genetically healthy fetus. The age of the father is also important – before or after 45 years, when the likelihood of having a baby with Down syndrome increases dramatically.

Hereditary factor. The cause of the development of the syndrome can be closely related marriages, the presence of a disease in one of the relatives of the child. Also important is the age of the grandmother, in which she gave birth to a daughter. The higher it is, the greater the risk of having a grandson with the syndrome.

It is important to remember that Down syndrome is recognized by specialists from all over the world as a random genetic mutation. It does not depend on the environmental situation, the level of radiation, the presence of hazardous production and other extraneous factors.

Typical external and other symptoms

People who are carriers of an extra chromosome have a characteristic appearance:

• flat bridge;
• Mongoloid incision of the eyes, because of which the pathology has the second name “Mongolism”;
• flat face and back of the head.

Also among the features are some lag in development and reduced immunity, which does not allow the body to resist external infections. All of the above is not a limiting factor. Today, special teaching methods have been developed for them from the first months of life. Subject to the activity of parents, children with Down syndrome symptoms can receive secondary education and a profession, become full-fledged members of society and start their own family.

Complications

Depending on the complexity of the form of Down syndrome, the patient may experience:

1. congenital heart defects;
2. frequent infectious diseases;
3. leukemia;
4. early onset of Alzheimer’s disease;
5. cessation of breathing during sleep;
6. obesity, etc.

Diagnostics

Identification of a genetic anomaly is possible in the early stages of pregnancy:

• Ultrasound screening in the period of 11-13 weeks evaluates the size of the collar space and the size of the nasal bone of the fetus;
• at the same time, a blood test is performed to clarify the amount of chorionic hormone and plasma protein;
• at later stages of pregnancy, fetal tissues are taken for genetic testing: amniocentesis, chorionic fiber biopsy, or cordocentesis.

Because we are talking about a genetic failure, the treatment of Down’s syndrome consists only in monitoring the patient’s state of health and correcting the complications of the underlying disease.

Prognosis for patients

Today, the average life expectancy with a genetic pathology is approaching 55-60 years, while a few decades ago they lived only up to 25 years due to unfavorable living conditions.

The probability of having a child with a genetic abnormality in a person with Down syndrome is about 35-50%. In addition, during the formation of the fetus in a pregnant woman with a disease, the unborn baby may experience other genetic failures.

At the same time, the risk of oncological diseases in such patients is reduced to zero. In addition, parents note the cordiality and invariably good mood of such children, their affection, responsiveness, the ability to easily make contact and not be offended by others.

Prevention

It is not possible to completely eliminate the risk of having a child with a genetic pathology of the 21st pair of chromosomes. However, it is in the power of future parents to do everything possible to strengthen their own reproductive health and exclude chromosomal failure:

• monitor their health, timely seek medical help for the treatment of identified diseases;
• lead a healthy and active lifestyle, play sports so that enough oxygen enters the eggs;
• eat right, enriching the diet with healthy foods high in vitamins and minerals;
• support the immune system;
• keep track of weight, tk. its deviation in any direction can cause hormonal failure and disruption of the process of maturation of germ cells;
• timely undergo an ultrasound examination during pregnancy in order to identify a genetic failure in the fetus in the first weeks of intrauterine development.