Edward's syndrome implies the second most common (after Down's syndrome) chromosomal disease, which is directly characterized by multiple malformations of intrauterine development, as well as underformation of some systems of internal organs. According to available statistics, the frequency of diagnosing this disease is approximately 1:5000. In this article, we will talk in more detail about why infection with Edwards syndrome occurs, and what are the main methods of treating it.
General information
So, according to experts, due to numerous malformations in the development of children with this diagnosis, as a rule, die at an early age. Despite the fact that babies are born approximately on time, their physical activity is very low. Moreover, in children with Edwards syndrome, neither physical nor mental full development is observed, as a result, boys die within the first ten days of life, and girls within six months (they can rarely live toone year).
Primary symptoms
The disease is characterized by the following symptoms:
- low body weight;
- difficulty swallowing;
- delayed physical/mental development;
- special appearance (broad nape, skull squeezed on the sides, small jaw, narrow eyes, deformed ears and limbs);
- clitoral hypertrophy in girls;
- anomaly in the structure of the penis in boys.
Edwards syndrome. Diagnosis
The definition of this disease in the first place is to conduct special chromosomal tests. Taking into account the fact that an ultrasound examination is performed during the entire pregnancy, it is still not always possible to determine the presence of this disease. So, Edwards syndrome on ultrasound can be detected only indirectly, that is, by accompanying signs (for example, by the absence of the so-called "umbilical artery" in a special channel, by the relatively small size of the placenta itself, etc.). In addition, literally in the first three months of gestation, according to experts, it is completely impossible to identify any gross anomalies in the development of the fetus. That is why we are not talking about artificial termination of pregnancy at an acceptable time for this. Most women tend to
carry the fetus and give birth to children with Edwards syndrome in due time.
Treatment
Unfortunately, the realAt the moment, doctors cannot offer effective solutions on how to cure this disease. Almost 90% of children with Edwards syndrome die in the first year of their lives (about 30% in the first month). Those who still manage to survive, during their short existence, constantly suffer from various kinds of somatic diseases, and are also characterized by deep mental retardation.
Conclusion
In conclusion, it should be noted that today scientists are still trying to find the necessary cure for such an unpleasant problem, conducting numerous studies in this area. However, so far, unfortunately, all efforts are in vain. Stay he althy!
