For the first time, the signs of children born with this deviation were described scientifically by the Englishman John Down in 1866. A healthy baby has 46 chromosomes, and one who has Down Syndrome has 47. And this inhibits the physical and mental development of the newborn.
Causes of the phenomenon
Specialists from the World Health Organization have found that in the world with such an anomaly, every 700-800th child is born. Such a number - invariably in various countries, with different climates, in all social strata.
It is also noted that a similar malfunction at the genetic level occurs regardless of the way moms and dads lead their lives. Neither their health, nor habits, nor the level of culture and education affects it.
And then what is the matter?
The very reason for the anomaly was discovered much later - only in 1959. This was done by Jerome Lejeune - French pediatrician. Behind him, incidentally, is listed more than one discovery regarding irregular chromosomes. In his opinion, in no case should you approve of termination of pregnancy. Down Syndrome, he believed, was not a sentence for parents. With proper care and a comprehensive treatment, even such children can become full members of society.
So, at the time of the confluence of the eggs and sperm, a chromosome discrepancy may occur. There is a chance that this will cause Down syndrome. And mother, as they say, is guilty. Indeed, in 90% of cases, a child receives an extra chromosome from her. While from dad - only in 10% of cases.
Mom's age
It also became clear that if there is a risk of giving birth to a sick child, then it is directly related to the age of the woman in childbirth. If the expectant mother is not 25 years old, then this risk is in the ratio of 1 to 1400. If she is under 30 - then 1 to 1000. But at 35 years old the chances of a sick baby are increased even more - 1 to 350. At 42, this 1 to 60. At 49 - already 1 to 12.
But here is the paradox. In fact, in young women, Down syndrome during pregnancy, the signs of which, according to all the laws of genetics, should not be manifested, is noted much more often. Indeed, at the age of 20-35 years old and give birth more often than at 50. It turns out that 80% of all Down children gave birth to mothers up to 35.
Dad and Grandma
Researchers also say that one should not discount the age of the father, and most importantly, the grandmother (the mother of a pregnant woman). This refers to how old she herself was at the birth of her daughter.
Studies on the determination of Down's syndrome during pregnancy have made it possible to state that the age of the grandmother when she became pregnant influences very significantly. The later she began to bear the child, the greater the danger that she will “present” Down syndrome to the heirs.
And this risk is growing by 30% - every year that a woman missed without giving birth on time.
Signs of Down's syndrome during pregnancy can also occur if the couple are in a close relationship. This causes a number of other serious diseases.
Of course, other conditions, including social ones, influence the decision to have a baby, besides the desire of the woman herself. But the fact remains.
The appearance of the child
How is it possible to distinguish a baby or an adult burdened with an extra gene by external signs? Let's see how Down syndrome manifests itself externally . Symptoms during pregnancy, in this case, do not take attention.
Firstly, a flat face with slanting eyes. And their shell is spotty, iridescent. The child's lips are wide, the tongue is also, in addition to this, thin, has a longitudinal deep groove. The head is round in shape, the forehead is narrow, beveled. Auricles are reduced to the top.
Now about the hair. They are quite rare and soft. Direct. Low down on the neck along the line of growth.
A slightly different form of arms, legs. So, the hands, as well as the feet, are short and wide. The little finger is crooked. It has only two grooves for bending. And on the palms - just one.
Teeth do not grow properly. The sky in the mouth is high. There are changes in the internal organs. Especially in the heart and digestive canal.
Sunny kids
However, despite the external unattractiveness, they are called "sunny children." As they say, there is no silver lining. Due to such genetic abnormalities, those born with Down Syndrome have a very special character. They always smile, they are kind, cheerful, do not pay attention to the insults inflicted on them. The kids are very affectionate, strongly attached to their parents and brothers, sisters, friendly with their neighbors. But the environment is most often evil towards them, very aggressive.
The difficulty is that they themselves are helpless. Unable to service themselves. They constantly need a nanny, some kind of guardian.
Heart disease plus kidney problems are their inherent diseases. Because of this, they, as a rule, do not live very long.
Women in position need to pay attention to possible signs of Down syndrome during pregnancy. This in the future will allow you to prepare in advance and get used to the moral fact.
Deviation Diagnosis
In almost any clinic, you can conduct research to identify Down syndrome during pregnancy. And his doctors insistently offer to make everyone who is expecting a baby, without exception.
Moreover, strictly on time - from 14 to 18 weeks. At this time, do the so-called "triple test." According to its results, one can already see something wrong and, thus, determine not only Down's syndrome, but some other deviations from the correct development of the fetus.
Various and rather complex blood tests are also performed. Moreover, the results may have increased or decreased indicators. And not only because of genetic changes. Therefore, a woman should do such mini-studies only with a professional. Moreover, then it is still necessary to add ultrasound data to this.
Optional - Ultrasound
But these results are very important. After all, they show specific signs of Down syndrome during pregnancy. However, this is not the end. They cannot be considered 100% reliable. The doctor’s mistakes are quite likely, or it happened due to defects, some kind of interference in the device. Or, even more unusual, such indications are simply individual features of the development of a perfectly healthy baby inside the mother!
Doctors know that we must also look at the expansion of the collar space of the fetus, and at possible violations in the bones of the nose. But you can see all this at a certain time: pregnancy from 11 to 14 weeks. Otherwise, then all these results lose their value for diagnosis.
Each stage of the study should be carried out by a highly qualified doctor, an experienced physician, even an ace in his field. Errors must be eliminated!
There is still research - genetic. But they are recommended only to women who are already over 35 years old. Unless, of course, the "triple test" gave poor results, and ultrasound revealed violations.
A consultation of doctors, including a geneticist, will offer the pregnant woman yet another study. For example, they take a piece of fetal tissue and carefully study its set of chromosomes. And this is risky. After all, you need to penetrate the needle into the uterine cavity. But what if bleeding starts, will there be a risk of miscarriage or the fetus will be injured?
That's why such a difficult decision about whether to keep a pregnancy after Down syndrome is made by the woman herself.
If a deviation is found
But now, all the manipulations are completed, all the analyzes are done. And a woman with fear awaits a final conclusion. Alas, the signs of Down syndrome during pregnancy were confirmed.
And now it remains to think about how to do the right thing. Abort pregnancy or continue? If a woman decided on an abortion, then everything is clear. On the appointed day, the fetus will be removed. But if she still wants to give birth to a baby, no matter what, then her state of health will be watched very carefully. For there are too many pitfalls associated with the health of mothers, children, and all sorts of difficulties. For example, pregnancy can still end long before the deadline. Or, say, the baby will be premature, which will add to the problems with his health.
Such women are sent to a hospital. To save. Observe, prescribe corrective therapy. And when the time is right for childbirth, they find out if the fetus has a heart defect, what it looks like, and what measures can be taken immediately after birth. Perhaps the child will be able to live with the vice for a certain time, get stronger, and then actions will begin to improve it.
Of course, all this is not easy and incredibly difficult. But who knows, perhaps this child will become your dearest creature, a joy for life.
Interesting data
In England, approximately 9 out of 10 women are decisive in terminating such a pregnancy.
In Russia about 2500 of these babies are born every year. And 85% of women in labor and their families leave a sick child right in the maternity hospital.
But in Scandinavia has not yet recorded a single (!) Case of abandonment of these unfortunate children. In the United States, there is already a line of 250 families who want and are not afraid to adopt a child with Down syndrome.