Signs of Down syndrome during pregnancy. Methods of identifying Down's syndrome in pregnancy

For the first time signs of children born with this deviation, in 1866, was described scientifically by the Englishman John Down. A healthy baby has 46 chromosomes, and the one who has Down's syndrome is already 47. And this hinders the physical as well as the mental development of the newborn.

Causes of the phenomenon

Specialists from the World Health Organization found that in the world with such an anomaly every 700-800th child is born. This number is invariable in different countries, with different climates, in all social strata.

It is also observed that such a malfunction at the genetic level happens regardless of what kind of lifestyle mums and dads lead. It does not affect their health, habits, culture or education level.

And in what case?

The cause of the anomaly was found out much later - only in 1959. This was done by Jerome Lejeune, a French pediatrician. Behind him, by the way, there is not one discovery on the part of irregular chromosomes. In his opinion, in no case should approval of the termination of pregnancy. Down syndrome, as he believed, is not a sentence for parents. With proper care and complex treatment, even such children can become full members of society.

So, at the time of the fusion of eggs and spermatozoa, a discrepancy of chromosomes can occur. There is a possibility that this will cause Down syndrome. And my mother is guilty, as they say. After all, in 90% of cases a child gets an extra chromosome from it. While from the pope - only in 10% of cases.

Age of mother

It also became clear that if there is a risk of having a sick child, then it is directly related to the age of the childbirth. If the future mother is not 25 years old, then this risk is in the ratio 1 to 1400. If she is under 30, then 1 to 1000. But in 35 years the chances of the appearance of a sick kid are increased even more - 1 to 350. In 42 years is 1 to 60. In 49 - already 1 to 12.

But here is the paradox. In fact, young women have Down syndrome during pregnancy, signs of which, according to all the laws of genetics, should not be manifested, is much more frequent. After all, at the age of 20-35 years and give birth more often than in 50. It turns out that 80% of all children-Downs gave birth to mothers up to 35.

Dads and grandmothers

Also, researchers state that one should not discount the age of his father, and most importantly, his grandmother (mother of a pregnant woman). This refers to how old she was at the birth of her daughter.

Studies on the definition of Down syndrome in pregnancy allowed us to state that the age of the grandmother, when she became pregnant, is very important. The later she began to nurse a child, the higher the danger that "give" the heirs Down syndrome.

And this risk grows by 30% - with every year that a woman misses, not giving birth in time to children.

Signs of Down's syndrome during pregnancy can also appear if the spouses are in a closely related marriage. This causes a number of other serious diseases.

Of course, the decision to have a child, other than the desire of the woman herself, is influenced by other conditions, including social ones. But the fact remains.

Appearance of the child

How do you distinguish between a toddler or an adult who is burdened with an extra gene by external signs? We'll figure out how Down's syndrome externally manifests itself. Symptoms of pregnancy, in this case, we do not take into account.

First, a flat face with slanted eyes. And the shell of them is spotty, rainbow. The lips of the child - wide, the tongue - also, in addition, thin, has a longitudinal deep groove. Head round in shape, forehead - narrow, oblique. The ears to the top are reduced.

Now about the hair. They are quite rare and soft. Straight lines. Low fall on the neck along the growth line.

A slightly different form of arm, leg. So, the brushes, and also the feet - are short and wide. The little finger is crooked. It has only two grooves for bending. And on the palms - only one.

Teeth grow wrong. The sky in the mouth is high. There are changes in the internal organs. Especially in the heart and the digestive canal.

Sunny children

However, despite the external unattractiveness, they are called "solar children". As they say, there is no thin without good. Because of such deviations of the genetic nature, those born with Down syndrome have a very special character. They always smile, they are kind, cheerful, do not pay attention to the grievances inflicted on them. The children are very affectionate, tied strongly to parents and brothers, sisters, friendly with neighbors. And after all, the environment is most often adjusted to them evil, very aggressively.

The difficulty is that they are helpless by themselves. I can not service myself. They constantly need a nanny, some kind of guardian. Heart disease plus kidney problems are inherent diseases. Because of this, they usually do not live very long.

Women in the situation need to pay attention to possible signs of Down syndrome during pregnancy. This in the future will allow you to prepare in advance and become morally familiar with the fact.

Diagnosis of deviation

Practically in any clinic it is possible to carry out researches on revealing of a Down's syndrome at pregnancy. And his doctors are urged to do everything for everyone who is expecting a child, without exception.

And, strictly in time - from 14 to 18 weeks. At this time, do so-called "triple test." By its results, one can already see something wrong and, thus, identify not only Down's syndrome, but some other deviations from the correct development of the fetus.

Also, various and rather complex blood tests are performed. And the results may have increased or decreased performance. And not only because of genetic changes. Therefore, to do such mini-research a woman should only have a professional. Especially since then it is still necessary to append ultrasound data to this.

Advanced - ultrasound

But these results are very important. After all, they reveal specific signs of Down syndrome during pregnancy. However, this is not the end. They can not be considered 100% reliable. It is likely that the doctor made mistakes, or it happened because of defects, some kind of interference in the device. Or, what is even more unusual, such indications are simply individual features of the development inside the mother of an ideally healthy baby!

Doctors know that you should also look at the expansion of the collar area of the fetus, and possible violations in the bones of the nose. But you can see all this at a certain time: a pregnancy of 11 to 14 weeks. Otherwise, then all these results lose their value for diagnosis.

Each stage of the study should be conducted by a highly qualified doctor, an experienced medical practitioner, even an ace in his own business. Errors must be excluded!

There are also studies - genetic. But they are recommended only to women who are already 35 years old. If, 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, take a piece of fetal tissue and carefully study its set of chromosomes. And this is risky. After all, it is necessary to penetrate the needle into the uterine cavity. And what if the bleeding starts, there is a risk of miscarriage or the fetus will be injured?

That's why such a difficult decision on whether to keep the pregnancy after Down's syndrome is taken by the woman herself.

If the deviation is found

But now, all the manipulations have been completed, all the analyzes are done. And the woman awaits a final conclusion with fear. Alas, the signs of Down's syndrome during pregnancy have been confirmed.

And now it remains to think about how to proceed correctly. Interrupt pregnancy or continue? If a woman decides to have an abortion, then everything is clear. On the appointed day, the fruit will be removed. But if she still wants to give birth to a baby, no matter what, then her health will be watched carefully. For there are a lot of pitfalls associated with the health of mother, child, and all kinds of difficulties. For example, pregnancy can still be interrupted long before the time limit. Or, say, the baby will be premature, which will add to the problems with his health.

These women are sent to a hospital. To save. Observe, prescribe corrective therapy. And when the terms for childbirth are coming up, they find out whether the fetus has a heart defect, what it looks like, and what measures can be taken immediately after birth. Perhaps a child will be able to live with a 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 being, a joy for life.

Interesting data

In England, about 9 out of 10 women are resolutely going to interrupt such a pregnancy.

In Russia, every year, about 2500 such babies are born. And 85% of mothers and their family members leave the sick child right in the maternity hospital.

But in Scandinavia has not yet recorded a single (!) Case of abandoning these unfortunate children. In the US, there is already a line of 250 families who want and are not afraid to adopt a baby with Down's syndrome.