Symptoms of Down syndrome in a baby

Symptoms of Down syndrome in a newborn. Suspected pregnancy is a risk

Down's syndrome is the most common genetic anomaly, whose presence and necessary acceptance is remembered every year on March 21 through World Down's Syndrome Day. The occurrence of Down's syndrome is statistically based on one child out of 750 live births, and it can be detected already with the help of prenatal examinations, which allows parents to prepare early for the arrival of a child with Down's syndrome.

Published: 22.05.2023
Updated: 08.12.2023

Although there is no cure for Down syndrome, it is an anomaly that can be lived with if optimal parenting and medical care are implemented in time. This is the only way these people can live a full life. We have summarized for you what Down syndrome is, what are its manifestations and what tests can be used to detect it in time in the following paragraphs.

What is Down syndrome?

The cells of a healthy person naturally contain 46 chromosomes, with one half coming from the mother and the other from the father. Sometimes, however, the normal number of chromosomes is exceeded by one chromosome, which causes the child to be born with a chromosomal disorder called Down syndrome. Such a child has 47 chromosomes, which is reflected in the health of his body, but also in his external features.

While the symptoms of this genetic abnormality were described as early as the late 19th century, the cause related to an extra 21st chromosome was not discovered until the 1950s. In some, very rare cases, the parent itself may be a carrier of the genetic anomaly, which may cause the parental couple to have more children with this syndrome. Mostly, however, it is not a congenital or an inherited disorder, because practically it is a new error occurring during the creation of the genetic basis of the fetus from the parental genes.

The risk of having such a baby is associated in society with the older age of the mother, but statistical data show that up to 80% of children with Down's syndrome are born to mothers under the age of 35 . It is also related to the fact that the birth rate has been the highest for a long time in this age-limited group.

A person with Down's syndrome is usually easily recognizable due to the typical facial features, but this diagnosis also goes hand in hand with autoimmune disorders, congenital heart defects, problems with the digestive tract and the thyroid gland, while the corresponding cause of all the listed health problems is a disruption of the immune system of a person with Down's syndrome syndrome.

The life expectancy of people with Down syndrome has increased significantly compared to the past. We can thank the progress in modern medicine for this. However, there is still no way to completely cure this chromosomal disorder. The treatment and the very risk of Down's syndrome refers mainly to the accompanying manifestations of this genetic anomaly, which affect a person's immunity.

What is Down syndrome?

Forms of Down syndrome

We know a total of 3 forms of Down's syndrome, which differ mainly in the extent to which the cells are affected by a chromosome error. The most common form of Down syndrome is free trisomy 21, which can be found in 93% of cases, while the essence of this anomaly lies in the availability of the 21st chromosome in all cells of the individual.

On the contrary, in the case of the mosaic form of Down syndrome, it is a condition where a certain number of cells contain a normal number of chromosomes, while the remaining part has an extra 21st chromosome. People with this type of Down syndrome usually do not have the typical physical features of this genetic anomaly.

The last type of Down's syndrome is the so-called translocation, which consists in splitting off part of chromosome 21 during cell division and its subsequent attachment to another chromosome, most often to the 14th chromosome. In this case, the person does not show any typical signs of genetic variation, but this is the only possible way in which Down syndrome can be inherited. Basically, the carrier of this defective gene does not suffer from the syndrome, but the probability of Down syndrome in his offspring naturally increases.

Down syndrome and its symptoms

The degree and severity of the disability depends on the percentage of cells that have an extra chromosome, which means that the ratio of healthy and diseased cells determines the disability of a particular child. As we have already mentioned above, people with Down syndrome have certain external characteristics that are included among the main symptoms of Down syndrome. Among others, it is a flatter face with slanted eye slits and a wider nasal root, smaller and lower-set ears, a large tongue and a difference from healthy dental development.

In addition to the above, however, other signs can also be observed, such as reduced head circumference, excess skin folds on the neck, shorter finger length, wide palms and lower birth weight of a child with Down syndrome. The signs of Down syndrome that affect the health of the body include congenital defects of the digestive and cardiovascular systems. Not every one of these manifestations has to appear on a specific person, but there can also be varying degrees of manifestations of the listed symptoms. Each case is completely individual, which requires an equally special approach.

Down syndrome and its symptoms

Other specific symptoms of Down syndrome in a newborn

As a result of impaired immunity, children with Down syndrome may be at greater risk of respiratory tract infections. However, the mothers of such children have the greatest difficulties in connection with nutrition, which is mainly caused by the mentioned inborn errors of the digestive tract, which can lead to obesity. However, in many cases it can be caused by problems with the thyroid gland, which occur in 30% of people with Down syndrome.

Reasonable fear is caused by difficulty breathing during sleep, while this symptom occurs in 10% of children affected by Down syndrome. In addition, hearing and visual impairments, orthopedic defects and dental problems can also occur, and none of these health manifestations should be ignored or trivialized. To make matters worse, impaired immunity and an increased likelihood of leukemia can complicate the life of many a parent of a child with a genetic anomaly.

When are Down syndrome tests done?

The typical signs of this chromosomal disorder are also visible to the naked eye, which allows doctors to diagnose Down's syndrome right after the baby is born, while they are convinced of its correctness only after blood sampling and its subsequent genetic test for Down's syndrome, performed under a microscope, where it is possible to identify a chromosomal abnormality confirming the given diagnosis. Down's syndrome can also be detected with prenatal genetic tests, that is, during a woman's pregnancy, which gives parents enough time to thoroughly prepare for the arrival of such a child.

When are Down syndrome tests done?

How is Down syndrome diagnosed?

Genetic diseases and anomalies can already be detected during a woman's pregnancy, while usually such a genetic examination during pregnancy is completed around the 16th week, through blood sampling for alpha-fetoproteins. These are proteins penetrating from the fetus into the bloodstream of a pregnant woman, thanks to which it is possible to arrive at a successful and timely diagnosis of possible congenital diseases and genetic disorders.

Ultrasound is also an effective means of detecting complications during pregnancy, and even in the case of Down syndrome, ultrasound does not lose its importance. In connection with this genetic deviation, it is rather an examination of the so-called of the nuchal area, i.e. the area of the neck and head, which serves to evaluate the manifestations of Down's syndrome in the face and neck of the child.

The most common method of detecting genetic diseases today is the first trimester combined screening, during which the doctor examines the fetus not only with ultrasound, but also with the help of blood sampling from the mother. Mothers undergo these genetic examinations in the 11th to 14th week of pregnancy. It is therefore a combination of the above-mentioned verified examinations of the fetus.

Another test for Down's syndrome during pregnancy, which is less commonly used today, is amniocentesis, consisting in the collection of amniotic fluid. In the past, this step was taken if a blood sample raised the suspicion of Down syndrome or another genetic disease during pregnancy. Mothers also took this test when they were over 35 years old, or if such a genetic anomaly had already occurred in the family. Amniocentesis was mostly performed in the second trimester of pregnancy after a positive screening for Down's syndrome, after which, however, a false diagnosis of fetal disease often occurred.

Amniocentesis consists in taking amniotic fluid using a long needle inserted into the mother's abdominal cavity. This procedure is considered very invasive because, among other consequences that accompany this examination, it also increases the risk of miscarriage. This is also the reason why this genetic test for Down syndrome is gradually being abandoned.

How is Down syndrome diagnosed?

Confirmed diagnosis of Down syndrome before the baby is born

Every person who decides to become a parent wants a healthy child. However, in the event that Down's syndrome is indeed confirmed in the baby through the aforementioned medical examinations, it is natural that immediate termination of the pregnancy will be considered. Even before that, it is necessary to consider certain things and let all the circumstances go through with a cool head. There are many people with Down syndrome who live as a full-fledged part of society. However, all this depends on the approach of the parents themselves to the given genetic disorder.

Before making a final decision, it is therefore advisable to study as much information as possible about this chromosomal disorder, or contact centers for Down syndrome, where you can personally meet other parents of children with such a diagnosis. In this way, you can also look into the lives of people with Down syndrome, which can help you broaden your view of the world and this particular issue.

If you finally decide to give birth to a baby with a positive screening for Down's syndrome, it is ideal if you approach it as a healthy child with normal requirements, thereby gradually helping it and allowing it to be included in a normal life. Of course, this will require a special approach in the form of using all the available educational alternatives, but it is always better to do everything for the child to integrate into society, than to make a distinction between healthy and sick children from your parental position, which can end up complete isolation of the child from normal and full-fledged life.

Down syndrome in a baby

What to do after discovering Down's syndrome in a born child?

An immediate examination of all the systems of the human body is necessary in order to detect all the congenital accompanying symptoms of Down's syndrome. The detection of congenital problems allows parents and doctors to find optimal solutions so that the child can lead the most valuable life possible. As with other babies, all vaccinations and detailed monitoring of development and growth are necessary for children with Down's syndrome, while a great emphasis is placed on weight monitoring, as well as eye, neurological, hearing, dental and hormonal examinations.

It is very important that such children create social relationships and practice communicating with people outside their own household. If a child has an onset of autism, it is necessary to seek psychiatric, psychological and special pedagogical help. However, it should be noted that such a diagnosis, however serious the level of its manifestations, may not mean the complete "end of the world" for you.

Most children with Down syndrome have the ability to learn in real life, despite certain gaps in logical and analytical thinking. In particular, their memory is at a very good level, while their exceptionality is also reflected in their emotional development. Children with Down syndrome are very nice, emotional, kind, empathetic and extremely perceptive. However, sometimes they also show signs of an increased level of stubbornness. There are cases when Down's syndrome is reflected in problems with understandable communication and behavior, which may be related to insufficiently developed communication and socialization skills.

Despite everything, it is true that in the later stages of life, people with Down syndrome can do lighter jobs, while most stay with their family. In the past, children and adults with this genetic anomaly were grouped together in specialized institutions, but those were the times when Down syndrome was considered a disease preventing people with this genetic disorder from leading a normal life like any other healthy person. Although times have changed, it is still very important that the social stigma surrounding genetic disorders and other types of autism is completely removed, because only then can people with Down syndrome feel like a welcome part of our society.


In discussions, mothers shared their experiences with tests to determine Down syndrome in a baby during pregnancy. Of course, they approve and recommend such tests when they suspect the possibility that a child might have Down syndrome, on the other hand, they confirmed that it is not a 100 percent confirmation of the syndrome. Despite bad results, a healthy baby can be born.

The most frequent questions - FAQ

Are you interested in other aspects related to the topic of the genetic anomaly known as Down syndrome? Can you think of other questions that were not answered in the text of the article or in the question and answer section ? Feel free to put them in the comments below the article. We will try to answer them as soon as possible.

First of all, it is necessary to clarify that it is not so much a disease as a genetic anomaly. The word "disease", or "disease" should ideally not be used in relation to this syndrome. Down's syndrome is inherited only in approximately 1% of cases in the mentioned translocation form. In essence, this is a completely random occurrence of this anomaly, which is, however, in some cases influenced by the older age of the mother. But it can also occur regardless of the age of the mother and the ethnicity of either parent.

Thanks to advances in medicine, the life expectancy of people with this genetic defect is increasing. In the past, children with this syndrome died at the age of 10, while later they lived to a maximum of 25 years. Today, however, people with Down syndrome live to be over 70 years old. Everything depends on lifestyle, thorough health care and treatment of individual diseases that can accompany this syndrome.

Certainly yes. Certain subjects and logical procedures may cause them problems, but this may not be the case in all cases. Even among healthy children, there are types who are weaker in some respects compared to their peers. The exceptionality of people with Down syndrome lies in their perfect sensory memory, thanks to which they learn best by imitation. Children with Down syndrome function just like normal children, but it is important to remember that they often do things in their own way and at their own pace.

Of course, there are people with Down syndrome who can easily find a partner for life and start their own family. However, it is a bit more complicated with fertility. While women with this genetic anomaly have at least a 50% chance of becoming pregnant, men with Down syndrome are in most cases completely infertile.

Even people with Down syndrome have their bad days and difficult or stressful moments. Because they cannot (and do not want to) hide their emotions, negative and positive feelings can be all the more intense. So they can express their dissatisfaction on the level, mainly on the emotional side. The cause of their current mood is more difficult to find out, but the great advantage of people with Down syndrome is the fact that you always know their mood and what subconscious opinion they have formed about you. Therefore, definitely pay attention to your behavior and the first impression you make on them.

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