/ Down syndrome: signs in newborns, diagnostics and features of pathology

Down Syndrome: Signs in Newborns, Diagnosis, and Pathology Features

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

Risk factor

The causes of the disease is not yet fullystudied. 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 the birth of a child with this ailment. In this case, the sex of the baby, the age of the father and the living environment do not matter.

Down syndrome signs in newborns

The most dangerous age for a woman is afterthirty five years old. The probability of having 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 syndrome in a newborn baby appear even in the womb. At the twelfth week of pregnancy, ultrasound may show pathology. But this is no guarantee that the baby will be born unhealthy. The exact result can be found only after delivery. But this is not enough. To confirm the diagnosis or to exclude it, it is necessary to conduct special examinations. External signs of Down syndrome in newborns are not always evidence of rejection.

Down Syndrome: Signs in Newborns

Термин «синдром» в медицине означает совокупность signs that occur in a particular human condition. In 1866, scientist and physician John Down grouped a complex of symptoms in a certain group of people with the disease. The syndrome is named after this person.

signs of down syndrome in a newborn

The most common signs of Down syndrome arenewborn visible 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 slightly flattened and flat. The back of the head has the same shape.
  • On the neck can be traced skin fold.
  • Observed reduced muscle tone.
  • The baby has a slash voice cut, and their corners are raised. Formed "Mongol fold", or the so-called third eyelid.
  • The limbs of a child are short, if compared to other children.
  • He has very mobile joints.
  • The fingers are the same length, so the palm seems to be wide and flat.
  • The child has a small height. Most often with age appears overweight.

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

signs of down syndrome in a newborn baby

Less common symptoms

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

  1. Small mouth and arcuate narrow palate.
  2. The 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 fold may form on the palms.
  6. The big toe is at a great distance from others. And on the foot there is a fold under it.

These signs of Down syndrome in a newborn may not manifest immediately, but as they mature. 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 may not alwaysensure that the baby has Down syndrome. Symptoms in newborns may not only be 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 pigment spots on the pupils;
  • improper chest structure;
  • diseases of the digestive and urogenital systems.

newborn children with down syndrome signs

They all 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 noticed the presence of two springs. In addition, they do not close for a very long time. It is established that all children with such an anomaly are very similar to each other. And the features of the parents in their appearance are usually not visible.

Diagnostics

There are several methods to identify this anomaly:

  1. Using ultrasound is determined by the size"Collar" in the fetus. If between the eleventh and thirteenth weeks of pregnancy in this zone appears subcutaneous fluid, then there is a risk of chromosomal abnormalities. However, the technique does not always show the correct results.
  2. Combined method. Its essence lies in the fact that an ultrasound examination is carried out and at the same time a special blood test is taken.
  3. Amniotic fluid test.Women who have been found to have a high risk of having a child with Down syndrome with this manipulation should continue further research to determine the exact result.

Types of deviation

Signs and symptoms of Down syndromenewborn may vary. It is considered 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 familial Down syndrome. It is characterized by attaching the twenty-first chromosome to any other. This deviation is quite rare. It occurs in about three percent of cases.

newborn children with down syndrome signs in a child

Mosaic syndrome occurs whenNot all cells in the body contain extra chromosome. This anomaly occurs in five percent of patients. Another type of syndrome is duplication of part of the twenty-first chromosome. Pathology occurs infrequently. Such a deviation is characterized by the division of some chromosomes.

Signs of a fetus

Quite often there are newborn children withDown syndrome. Signs can be identified not only from the baby that was born, 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, not only the thickness of the collar area is checked, but also the size of the nasal bone. If it is too small or completely absent, it indicates the presence of the syndrome. The same can be said about the collar area, if it is wider than 2.5 mm.

signs and symptoms of down syndrome in a newborn

In later terms, you can see not onlythis pathology, but also others. But patients must understand that it is impossible to accurately detect the disease in the fetus. It is proved that 5% of the signs seen on the ultrasound can be false.

Newborn babies with Down syndrome: signs in a child

Many parents are too puzzled by the appearancetheir baby. However, this may be hiding many other serious problems. Such children are subject to many diseases. They may suffer from such afflictions:

  • Lag in mental and physical development.
  • Impaired vision and hearing, which may appear completely unexpected.
  • 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 disorders, including leukemia.

Correct solution

Thanks to modern technology, a woman finds outabout the presence of chromosomal abnormalities in the fetus. In the early period, the mother may 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 it in advance and their fate. Today, this chromosomal abnormality is a fairly frequent phenomenon. 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 fate.

external signs of down syndrome in newborns

Recommendations for parents

It is important for the father and mother of the “sun-kid” to remember the following truths:

  1. Children with Down Syndrome are quite learnable, 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 regular peers. It is better if they are brought up in families, and not in specialized boarding schools.
  3. After school, patients with the anomaly of the twenty-first chromosome may well receive higher education. Do not get too hung up on the illness of the child.
  4. "Children of the Sun" are very kind and friendly. They are able to truly 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 extend their lives to fifty years.
  6. You should not take the blame for the birth of the "sun child". Even quite 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 of newborns were indicated in this article) allows children to grow, develop and enjoy life. Our task is to support them, give attention and love.

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