Signs of Down syndrome during pregnancy. Ways to detect Down syndrome during pregnancy

2024 Author: Priscilla Miln | [email protected]. Last modified: 2023-12-16 00:21

For the first time, the signs of children born with this deviation were scientifically described in 1866 by the Englishman John Down. A he althy baby has 46 chromosomes, while someone with Down syndrome has 47. And this slows down the physical as well as mental development of the newborn.

Causes of the phenomenon

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

It has also been observed that such a failure at the genetic level happens regardless of what lifestyle moms and dads lead. Neither their he alth, nor habits, nor the level of culture and education affects here.

What's the matter then?

The very 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 more than one discovery regarding the wrong chromosomes. In his opinion, under no circumstances shouldapprove 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 sperm, chromosomes may separate. There is a possibility that this will cause Down syndrome. And the mother is to blame, as they say. Indeed, in 90% of cases, the child receives an extra chromosome from her. While from the pope - only in 10% of cases.

Mom's age

It also became clear that if there is a risk of having a sick child, it is directly related to the age of the woman in labor. 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, the chances of having a sick baby are increased even more - 1 to 350. At 42 years old, this is 1 to 60. At 49 - already 1 to 12.

But here's the paradox. In fact, in young women, Down syndrome during pregnancy, the signs of which, according to all the laws of genetics, should not appear, is much more common. Indeed, at the age of 20-35 years, they give birth more often than at 50. It turns out that 80% of all Down children gave birth to mothers before 35.

Dads and grandmothers

The researchers also say that the age of the father should not be discounted, and most importantly, the grandmother (mother of a pregnant woman). This refers to how old she herself was at the birth of her daughter.

Studies on the definition of Down syndrome during pregnancy made it possible to state that the age of the grandmother when she became pregnant affects very significantly. Howthe later she began to bear a child, the higher the risk that she would “give” Down syndrome to the heirs.

And this risk is growing by 30% - with every year that a woman missed by not having children on time.

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

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

Child appearance

How to distinguish a baby or then an adult burdened with an extra gene by external signs? Let's figure out how Down's syndrome manifests itself outwardly. Symptoms during pregnancy, in this case, we do not take into account.

First, a flat face with slanted eyes. And their shell is spotty, iridescent. The lips of the child 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, sloping. The auricles are reduced to the top.

Now about the hair. They are quite rare and soft. Direct. Drop low on the neck along the growth line.

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 - only one.

Teeth don't grow properly. The sky in the mouth is high. There are also changes in the internal organs. especially in the heart andalimentary canal.

Sunshine kids

However, despite the external unattractiveness, they are called "sunny children". As they say, there is no evil without good. Due to such deviations of the genetic nature, those born with Down syndrome have a very special character. They are always smiling, 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 set to them evil, very aggressive.

The difficulty lies in the fact that by themselves they are helpless. Unable to serve themselves. They constantly need a nanny, some kind of guardian. Heart disease plus kidney problems are inherent diseases. Because of this, they tend to not live very long.

Women in position need to pay attention to possible signs of Down syndrome during pregnancy. In the future, this will allow you to prepare in advance and mentally get used to the fact.

Diagnostic deviation

Almost any clinic can conduct research to detect Down syndrome during pregnancy. And his doctors insistently suggest doing it to everyone who is expecting a baby, without exception.

Moreover, strictly on time - from 14 to 18 weeks. At this time, the so-called "triple test" is done. Based on its results, it is already possible to see something wrong and, thus, to determine not only Down's syndrome, but some other deviations from the correct development of the fetus.

Also carry out various and rather complexblood tests. Moreover, the results may have increased or decreased rates. And not just 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 detect specific signs of Down syndrome during pregnancy. However, this is by no means the end. They cannot be considered 100% reliable. The doctor's errors are quite likely, or it happened due to defects, some kind of interference in the apparatus. Or, even more unusual, such indications are simply individual developmental characteristics of a perfectly he althy baby inside the mother!

Doctors know that they need to look also at the expansion of the area of the collar space in the fetus, and at possible disorders 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. Mistakes must be eliminated!

There are also genetic studies. But they are recommended only for women who are already over 35 years old. Unless, of course, the “triple test” gave poor results, and the ultrasound revealed abnormalities.

A council of doctors, including a geneticist, will offer the pregnant woman another examination. For example, they take a piece of fetal tissue and carefully study its set of chromosomes. And thisrisky. After all, it is necessary to penetrate the needle into the uterine cavity. What if bleeding starts, there is a risk of miscarriage, or the fetus is injured?

That's why it's up to the woman herself to decide whether to continue a pregnancy after Down's syndrome.

If a deviation is found

But now, all the manipulations have been completed, all the tests have been done. And the woman fearfully awaits the 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. Terminate pregnancy or continue? If a woman decides to have 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 he alth will be monitored very carefully. For there are too many pitfalls associated with the he alth of the mother, the child, and all sorts of difficulties. For example, pregnancy can still be terminated long before the due date. Or, let's say the baby turns out to be premature, which will add to his he alth problems.

These women are sent to the hospital. To save. Observe, prescribe corrective therapy. And when the time comes 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 a defect for a certain time, will get stronger, and then they will begin actions to improve him.

Of course, all this is not easy and incredibly difficult. But who knows, maybe this child will become the mostyour dear being, joy for life.

Interesting data

In England, about 9 out of 10 women decide to terminate 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, not a single (!) Case of abandonment of these unfortunate children has yet been recorded. In the US, there is already a queue of 250 families who want and are not afraid to adopt a child with Down syndrome.