Trisomy 18 (Edwards syndrome) – causes, complaints & therapy

Trisomy 18 (Edwards syndrome)

Trisomy 18 (Edwards syndrome) is a developmental disorder. This takes on severe proportions and exists from the birth of the child. The disease is based on a change in the genetic material. It is also known as “Edwards syndrome”.

What is trisomy 18?

In the context of trisomy 18, there is a change in the chromosomes. Thus, the 18th chromosome exists triplely in each cell. In some patients, however, only another part of the chromosome can be observed. In most cases, the change affects every cell of the body. Only in a few patients can the tripling be reduced to a few cells. In addition, there is a special form of the disease: translocation trisomy 18.

While trisomy 18 is not a hereditary disease, translocation trisomy 18 can occur more frequently in a family due to genetic components. Newborns with Edwards syndrome are usually severely underweight. They suffer from malformations of important organs, such as the heartkidneys or intestines. Many children with trisomy 18 die during pregnancy. It is very rare for a sick child to reach adolescence.

Causes

A chromosome transmits all genetic information of every human being. There are 46 chromosomes in all cells, which occur in pairs. The only exceptions are germ cells. Each chromosome should occur twice in the individual cells. In the context of trisomy 18, however, a process occurred during mitosis, resulting in another 18th chromosome. In contrast to the body cells, the germ cells are haploid.

These are the egg and sperm. Only when they unite does a diploid cell develop. If a second 18th chromosome was already present in one of the germ cells due to faulty cell division, there are suddenly three chromosomes in the child’s cells after fusion. Already other parts of the 18th chromosome can lead to the serious complaints.

Trisomy 18 in most cases develops due to an error in the cell division of the germ cell of the maternal side. The older the mother, the greater the risk that her child will suffer from the disease.

Symptoms and course

Typical symptoms of trisomy 18 (Edwards syndrome):

  • Malposition of the fingers
  • Malposition of the eyes
  • Malposition of the palate
  • Malposition of the lips

The symptoms of trisomy 18 are diverse. They manifest themselves mainly through [[developmental disorders in children| Developmental disorders] and malformations. The residue within the development of the child already occurs during pregnancy. At birth, the first thing you notice is the severe underweight. In addition, diseased children have a small head and a bulging forehead.

The mouth-chin region is changed in size, eyes, lips and palate are often malformed. In some children, a malposition of the fingers can be observed. Often the index finger is located over the middle and ring fingers. The skeleton as a whole is altered in such a way that ribs may be missing. The feet take on deformed manifestations, while further malformations occur internally. These are manifested by complaints of the heart, kidneys, brain, ureters and gastrointestinal tract.

The course of the disease depends on the symptoms. Regardless of the severity, life expectancy is always considered greatly reduced. 50 percent of children die within the first 8 weeks. Only 10 percent survive the first 12 months.

Diagnosis

The diagnosis can already be derived during pregnancy. For example, a delay in growth is a first indication. A genetic test can confirm the suspicion. For this purpose, cells are taken from the child via the maternal abdominal wall. An examination excludes whether the 18th chromosome occurs too often. Whether such a test should be carried out is at the discretion of the parents.

Treatment and therapy

There is no uniform treatment for trisomy 18. Accordingly, the alleviation of symptoms is the focus of therapy. Here, for example, operations to eliminate malformations come into question. A distinction must be made between the different forms of the disease. In the context of mosaic trisomy 18, only some cells are affected by the tripling of the 18th chromosome. This often results in a milder course of the disease. Here, a correction of malformations can largely promote the affected child.

With free trisomy, the child usually dies very quickly, so that therapeutic measures are rarely used. The treatment options for trisomy 18 are therefore severely limited. Ultimately, the symptoms are so severe that they cannot be treated. Operations for malformations can often only prolong the life of the child for a short period of time. In addition, a good prognosis cannot be made for most sufferers, so some women choose to have an abortion during pregnancy. This is also often advised by doctors as soon as the diagnosis is established.

Prevention

Trisomy 18 cannot be prevented because it is caused by an error in cell division. However, examinations can already provide information during pregnancy as to whether the child is suffering from the disease.

Dorothy Farrar

Hello and welcome to my Health Guide & Encyclopedia! My name is Dorothy Farrar, and I'm the founder and main author of this platform.
My passion for health and wellness started at a young age when I became interested in the connection between the food we eat and the way we feel. This fascination led me to study nutrition and dietetics in college, where I learned about the importance of a balanced diet and the impact of various nutrients on the body.

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