Down syndrome: signs in newborns, diagnosis and features of pathology

Today, Down syndrome is the most common genetic abnormality. The foundation of this disease is laid even at the time of the formation of the egg or sperm. A child who has this problem has a slightly different chromosome set. He is abnormal. If an ordinary baby has 46 chromosomes, then a child-down has 47.

Risk factor

The causes of the onset of the disease are not yet fully understood. However, doctors from around the world came to a unanimous decision. They argue: the older the woman who gives birth, the higher the risk of having a baby with this ailment. In this case, the gender of the baby, the age of the father and the living environment do not matter.

The most dangerous age for a woman is after thirty-five years. The probability of having a baby with the wrong set of chromosomes increases several times. This is especially true for families who already have such a "sunny baby." Signs of Down syndrome in a newborn baby appear even in the womb. At the twelfth week of pregnancy, an ultrasound scan can show a pathology. But this is not a guarantee that the baby will be born unhealthy. The exact result can be found only after childbirth. But this is not enough. To confirm the diagnosis or exclude it, you need to conduct special examinations. External signs of Down syndrome in newborns are not always a confirmation of the deviation.

Down syndrome: signs in newborns

The term "syndrome" in medicine means a set of signs that manifest themselves in a particular human condition. In 1866, the scientist and physician John Down grouped a complex of symptoms in a specific group of people with this disease. In honor of this person, the syndrome is named.

Most often, signs of Down syndrome in a newborn are noticeable immediately after birth. Such children, unfortunately, are born quite often. For every seven hundred newborns, there is one child with Down syndrome. At the same time, most babies have the same signs:

• The face is a bit flat and flat. The nape has the same shape.
• There is a skin fold on the neck.
• A decreased muscle tone is observed.
• The baby has a slanting voice incision, and their corners are raised. A “Mongol fold” is formed, or the so-called third eyelid.
• The limbs of the child are short, if we compare with other children.
• He has very mobile joints.
• The fingers are the same length, so the palm seems wide and flat.
• The child is short. More often than not, overweight appears with age.

These features are characterized by Down syndrome. Almost all signs are associated with deformation of the skull and facial features, as well as with violations of bone and muscle tissue. However, there are other signs. They are not so common.

Less common symptoms

Down syndrome (signs in newborns very often appear already in infancy) can be diagnosed, focusing on other indicators. Among them:

1. Small mouth and arched narrow palate.
2. Weak tone of the tongue: it constantly protrudes from the mouth. Over time, folds may form on it.
3. A small chin, as well as a short nose and a wide nose bridge.
4. Short neck.
5. A horizontal crease may form on the palms.
6. The big toe is at a great distance from the others. And on the foot under it there is a fold.

These signs of Down syndrome in a newborn may not appear immediately, but as it grows older. By the way, with age, the child often begins problems with the cardiovascular system.

What is not noticeable at first sight

Even the above symptoms can not always guarantee the fact that the baby has Down syndrome. Signs in newborns can be not only clearly visible. Doctors also diagnose internal differences that cannot be detected immediately when a baby is born. In the future, doctors should pay attention to such factors:

• epileptic seizures;
• congenital leukemia;
• clouding of the lens and age spots on the pupils;
• abnormal structure of the chest;
• diseases of the digestive and genitourinary systems.

All of them can talk about chromosomal abnormalities. Such signs of Down syndrome in a baby are found only in ten cases out of a hundred. Also, some children have two fontanelles. In addition, they do not close for a very long time. It was found that all children with such an anomaly are very similar to each other. And the features of parents in their appearance are usually not visible.

Diagnostics

There are several methods to identify this anomaly:

1. Using ultrasound, the size of the “collar” of the fetus is determined. If subcutaneous fluid appears in this zone between the eleventh and thirteenth weeks of pregnancy, then there is a risk of a chromosomal abnormality. However, the technique does not always show the correct results.
2. The combined method. Its essence lies in the fact that an ultrasound examination is performed and at the same time a special blood test is taken.
3. The study of amniotic fluid. Women who have been found to have a high risk of having a baby with Down syndrome with this manipulation should continue further research to determine the exact result.

Types of Deviation

Signs and symptoms of Down syndrome in a newborn may vary. It is generally accepted that the deviation is characterized not by two, but by three copies of the twenty-first chromosome. But there are also other forms of pathology. It is also very important to know about them. Firstly, this is the so-called family Down syndrome. It is characterized by the attachment of the twenty-first chromosome to any other. This deviation is quite rare. It occurs in about three percent of cases.

Mosaic syndrome manifests itself in the case when not all cells of the body contain an extra chromosome . Such an anomaly occurs in five percent of patients. Another type of syndrome is the duplication of part of the twenty-first chromosome. Pathology is rare. This deviation is characterized by the division of some chromosomes.

Signs of the fetus

Quite often there are newborn children with Down syndrome. Signs can be identified not only in the baby, but also in the fetus. This deviation, as already mentioned, can be seen on an ultrasound scan between the twelfth and fourteenth weeks of pregnancy. In this case, not only the thickness of the collar zone is checked, but also the size of the nasal bone. If it is too small or completely absent, this indicates the presence of the syndrome. The same can be said about the collar zone, if it is wider than 2.5 mm.

At later dates, you can notice not only this pathology, but also others. But patients should understand that it is impossible to accurately detect the disease in the fetus. It is proved that 5% of the signs seen on ultrasound can be false.

Newborns with Down syndrome: signs in a child

Many parents are too perplexed by the appearance of their baby. However, many other serious problems may be hidden behind this. Such children are prone to many diseases. They can suffer from such ailments:

• Lag in mental and physical development.
• Visual and hearing impairment, which can occur completely unexpectedly.
• Delays in the development of fine motor skills.
• Excessive mobility of bones, joints and muscles.
• Very low immunity.
• Problems with the lungs, liver and digestive system.
• Congenital heart disease and blood diseases, including leukemia.

Correct solution

Thanks to modern technology, a woman learns about the presence of chromosomal pathologies in the fetus. At an early stage, the mother can terminate the pregnancy, thus depriving the life of the unborn baby. Down Syndrome is not a fatal disease. But the mother of the child can determine him and her fate in advance. To date, this chromosomal abnormality is a fairly common occurrence. You can meet a person and do not even believe that he has Down syndrome. Of course, raising such a child is a little more difficult. His life will be different from the life of other children. But no one says that he will be unhappy. Only the mother has the right to decide his future fate.

Recommendations for parents

It is important for the father and mother of the “sunny baby” to remember the following truths:

1. Children with Down syndrome are fully trained, although they have developmental delays. For this you need to use special programs.
2. Such children develop much faster if they are in a team with ordinary peers. It is better if they are brought up in families, and not in specialized boarding schools.
3. After school, patients with an anomaly of the twenty-first chromosome may well receive higher education. Do not get hung up on a child’s illness.
4. "Children of the Sun" are very kind and friendly. They are able to sincerely love and create families. However, they have a very high risk of having a baby with Down syndrome.
5. Thanks to new medical inventions, such people can extend their lives to fifty years.
6. Do not take the blame for the birth of a "sunny child". Even completely healthy women can give birth to such a baby.
7. If your family has a child with this anomaly, then the risk of having the same baby is about one percent.

Down Syndrome (signs in newborns were indicated in this article) allows children to grow, develop and enjoy life. Our task is to support them, to give attention and love.