Down's syndrome is a chromosomal pathology, i.e. at birth the child gets an extra chromosome, instead of the normal 46, the child has 47 chromosomes. The very word syndrome means a set of any signs, characteristic features. This phenomenon was described for the first time by a doctor from England John Down in 1866, hence the name of the disease, although the physician was never ill by it, as many mistakenly believe. For the first time, an English physician characterized the disease as a mental disorder. Up to the 1970s, for this reason, the disease was tied to racism. In Nazi Germany, thus, they exterminated the inferior people. Up until the middle of the 20th century, there were several theories of the appearance of this deviation:
Possible relationship between the birth of a disabled child and the mother's age (over 35 years);
The syndrome manifests itself only with a certain interconnection of genetic and hereditary factors;
The most remote from the truth theory is that this syndrome occurs with birth trauma.
Thanks to the discovery of modern technologies that allowed scientists to study the so-called karyotype (ie, a chromosome set of chromosome traits in human body cells), it became possible to prove the existence of an anomaly of chromosomes. It was only in 1959 that the geneticist from France, Jerome Lejeune, proved that this syndrome appears due to the trisomy of the 21st chromosome (that is, the presence of an extra chromosome in the chromosome set of the organism - the child receives an extra 21 chromosome from the mother or father). Most often, Down syndrome occurs in children whose mothers are already old enough, and also in newborns whose families have had cases of this disease. According to modern research, ecology and other external factors can not cause this deviation. Also, according to research, the father of a child older than 42 years, can cause a syndrome in a newborn.
In order to know in advance whether there is a pathology in a pregnant woman having a child with a chromosomal abnormality, today there are a number of diagnostics, which, unfortunately, are not always harmless for a woman and her future baby.
Aminocentesis is considered one of the most accurate tests for determining this pathology. It is carried out on the basis of an analysis of the fluid from which the fetus will later develop. The probability of a correct result is - 99.8%.
Chorionic biopsy refers to invasive types of research, when inserting instruments into the uterus of a pregnant woman to collect the material on the basis of which the result will be. The risk of miscarriage with such studies is 1%, but it still exists.
These kinds of diagnostics should be used when one of the parents has a genetic predisposition to the disease with this syndrome.
In normal cases, pregnant women are offered screening, which is a blood test and ultrasound. The results of this study can not state that your baby will not have this syndrome, but they show the likelihood of its occurrence, if it is large, then you can resort to invasive techniques.
There is also the so-called "triple test", when a pregnant woman gives a blood test for 3 indicators: chorionic gonadotropin, free estriol and alpha-fetoprotein. But as recent studies have shown, this biochemical test does not reveal the pathology of the fetus. This test is quite expensive, therefore, is not available for all pregnant women.
As practice shows, this method of diagnosis has no advantages over conventional ultrasound . With an ordinary but thorough ultrasound examination, an experienced doctor can reveal the pathology of the fetus (but do not forget that the doctor can determine deviations from the norm only when the signs of the fetal organs are already visible - this is 10-14 weeks of the term).
The most reliable way to determine an extra chromosome in a newborn is to analyze the blood of a pregnant woman (up to 16 weeks) for so-called "biochemical markers", this is an analysis for a certain type of protein. Since a pregnant woman in her blood has a part of the cells of the unborn child - this analysis is one hundred percent. Because of the special method of material research, this method is used in prenatal diagnostic centers only in some large cities, like Moscow and St. Petersburg. Fortunately, almost in all cities of Russia there are medical genetic clinics, services where couples can get diagnostics and find out any predictions about the genetics of their unborn child.
Despite the fact that external factors do not significantly affect the genetic deviations in the development of the child, it is necessary to ensure that the pregnant woman has peace and proper care already at the first stages of pregnancy. Unfortunately, in our country everything is done vice versa, most work almost until the end of the pregnancy and begin to work together with doctors only during the maternity leave, which is fundamentally wrong. As mentioned earlier, the threat of a child's birth of a sick syndrome grows with the age of a woman, for example, in 39 year old women, the probability of having such a child is 1 to 80. According to the latest data, young girls who have become pregnant before the age of 16, the number of such cases in our country and in Europe as a whole has recently increased significantly. As recent studies show, women who receive various vitamin complexes already at the first stages of pregnancy have the lowest probability of having a child with any pathology.
If nevertheless it was not possible to conduct expensive tests and find out about the probability of developing this syndrome in a newborn, how can you recognize these signs after the birth of the child? Immediately after the birth of a child, according to his physical data, the doctor can determine whether he has this disease. Preliminary to assume that this disease is a child can be on the following grounds:
According to the results of the screening, if it had a place to be, and there was an unclear picture about the detection of the pathology of the fetus;
Information from the parents' medical records - if any of them, or family members, have this deviation (this fact should alert the doctors in the hospital);
Survey of the child for any health problems
To confirm or refute the diagnosis in infants take a blood test, which accurately indicates the presence of abnormalities in the karyotype.
In infants, despite these "preliminary signs", the manifestations of the disease can be blurred, but after a while (while the test results are being prepared), one can recognize the deviation in a number of physical signs:
First of all, this "flat face", which is determined in 90% of cases;
The formation of a skin fold on the neck, which is not inherent in ordinary babies - about 80%;
Short limbs;
Dental abnormalities;
Flat head, as well as face;
Constantly open mouth, due to abnormal development of the palate;
Slight strabismus (the child resembles a representative of the Mongoloid race);
Flat nose bridge
Unfortunately, this is not all the physical signs of this syndrome. At a later age and throughout their lives, these people are harassed by hearing, sight, thinking, disruption of the gastrointestinal tract, mental retardation, etc. Today, compared with the last century, the future of children with Down's syndrome has become much better. Thanks to specialized institutions, specially designed programs, and most importantly thanks to love and care, these children can live among ordinary people and develop normally, but this requires tremendous work and patience.
If you are planning a family, try to advance, conduct all the research yourself and your husband so that in the future you have the birth of healthy babies. Take care of your health! Now you know whether Down syndrome can be recognized immediately after the birth of the child.