Down's Syndrome: signs in newborns, diagnosis and pathology

To date, Down's 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. It is abnormal. If the usual baby has 46 chromosomes, then the child-down-47.

Risk Factor

The causes of the appearance of the disease have not yet been fully explored. However, doctors from all over the world came to a unanimous decision. They argue: the older the woman who gives birth, the higher the risk of the birth of a child with this ailment. In this case, the sex of the baby, the age of the father and the environment of residence do not matter.

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

Down syndrome: signs in newborns

The term "syndrome" in medicine means a combination of symptoms that manifest themselves in a particular condition of a person. In 1866, scientist and physician John Down grouped a complex of symptoms in a certain group of people who have this disease. In honor of this person, and called the syndrome.

Most often, the signs of Down's 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 children notice the same signs:

• The face is slightly flattened and flat. The same shape has the back of the head.
• A skin fold is visible on the neck.
• There is a lowered muscle tone.
• The baby has a slit in the oblique, and their corners are raised. Forms a "Mongolian fold", or the so-called third eyelid.
• The limbs in the child are short, if you compare with other children.
• He has very flexible joints.
• The fingers are of the same length, so the palm seems wide and flat.
• The child has a small growth. Most often with age, overweight appears.

Such features are characterized by Down syndrome. Almost all signs are associated with deformation of the skull and facial features, as well as with disorders of bone and muscle tissue. However, there are other signs. They do not meet so often.

Less common signs

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

1. Small mouth and arcuate narrow palate.
2. Weak tone of the tongue: it constantly protrudes from the mouth. Over time, it can form wrinkles.
3. A small chin, as well as a short nose and a broad nose bridge.
4. Short neck.
5. On the palms can be formed horizontal fold.
6. The big toe is at a great distance from the others. And on the foot below it there is a fold.

These signs of Down's syndrome in a newborn can not manifest immediately, but as it grows up. By the way, with age, the child often has problems with the cardiovascular system.

What is not noticeable at first sight

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

• Epileptic seizures;
• Congenital leukemia;
• Lens opacity and pigmentation on the pupils;
• Irregular structure of the chest;
• Diseases of the digestive and genitourinary systems.

All of them can talk about a chromosomal abnormality. Such signs of Down's syndrome in a baby are found only in ten cases out of a hundred. Also, some children noticed the presence of two fontanelles. In addition, they do not close very long. It is established that all children with this 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. With the help of ultrasound, the "collar" size of the fetus is determined. If there is subcutaneous fluid between the eleventh and thirteenth weeks of pregnancy in this zone, then there is a risk of a chromosomal abnormality. However, the methodology does not always show the correct results.
2. Combined method. Its essence lies in the fact that an ultrasound is performed and a special blood test is taken at the same time.
3. Study of the amniotic fluid. Women who, with the help of this manipulation, were found to have a high risk of having a child with Down's syndrome, should continue further research to determine the exact result.

Types of deviation

Symptoms and symptoms of Down's syndrome in a newborn may differ. 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. About them is also very important to know. First, this is the so-called Down's family 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 the extra chromosome does not contain all the cells of the body. This anomaly occurs in five percent of patients. Another type of syndrome is the duplication of part of the twenty-first chromosome. Occurs pathology infrequently. This deviation is characterized by the fission of some chromosomes.

Symptoms of the fetus

Newborn children with Down's syndrome are often found. Signs can be identified not only from the child who has appeared, but also from the fetus. This deviation, as already mentioned, can be seen on ultrasound between the twelfth and fourteenth weeks of pregnancy. In this case, check not only the thickness of the collar zone, but also the size of the nasal bone. If it is too small or absent completely, 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 see 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 may be false.

Newborn children with Down's syndrome: signs of a child

Many parents are too puzzled by the appearance of their baby. However, this may hide many other serious problems. Such children are susceptible to many diseases. They can suffer from such ailments:

• Lag in mental and physical development.
• Vision and hearing impairments that may occur completely unexpectedly.
• Delays in the development of fine motor skills.
• Excessive mobility of bones, joints and muscles.
• Very low immunity.
• Problems with 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. In the early term, the mother can interrupt pregnancy, thus depriving the life of an unborn baby. Down syndrome is not a fatal disease. But the mother of the child can determine in advance his and his fate. To date, this chromosomal abnormality is a fairly common phenomenon. You can meet a person and do not even believe that he has Down syndrome. Of course, it is a little more difficult to bring up such a child. His life will be different from that of other children. But no one says that he will be unhappy. Only the mother has the right to decide his fate.

Recommendations for parents

It is important for the father and mother of the "solar baby" to remember the following truths:

1. Children with Down's Syndrome are fully trained, although they have developmental delays. To do this, you need to use special programs.
2. Such children develop much faster if they are in a collective with ordinary peers. 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 get higher education. Do not focus too much on the illness of the child.
4. "Children of the sun" are very kind and friendly. They are able to genuinely love and create families. However, they have a very high risk of having a child with Down syndrome.
5. Thanks to new medical inventions, such people can prolong life to fifty years.
6. Do not take the blame for the birth of a "sunny child." Even quite healthy women can give birth to such a baby.
7. If your family has a child with this abnormality, then the risk of the appearance of the same baby is about one percent.

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