What is Edwards syndrome?

Every mother cares about the health of her child. However, so far even medicine cannot completely eliminate hereditary syndromes. And if it is sometimes impossible to prevent their development (an exception is the pre-implantation diagnosis in IVF), then you must at least know how to help the child from the first minutes of life. Edwards syndrome is one of the rare genetic diseases in which part of the human chromosome 18 (or even the entire chromosome)Edwards syndromedoubles up. Most organisms affected by this defect die in the womb. Full-term babies who develop Edwards syndrome are born with serious anomalies and often live significantly shorter than healthy people. In children suffering from this disease, there is a wide range of deviations in the development of the brain, heart, disorders in the craniofacial structure, kidneys and the gastrointestinal tract.

Statistical data

Trisomy of the 18th chromosome is thought to occur in about 1 fetus per 3000 cases.However, 90% of abnormal embryos cease to develop in early pregnancy, which ends in a spontaneous miscarriage. From 40 to (according to some sources) 75% of babies with this genetic defect are girls. Most are born prematurely. It was noted that the disease is most common in children whose mothers are over 30 years old. The average life expectancy for half of children with serious genetic defects is less than two months. 90-95% die before the first year. Approximately 5 to 10% of children live longer. But the abnormal development of the nervous system, which is accompanied by Edwards syndrome, leads to impaired function of the heart muscle and other organs. Therefore, these children need constant medical care and care.

How does a crash occur?

The disease is caused by trisomy 18th chromosome. This violation occurs often by accident, although the risk increases with the age of the mother. If during the formation of the egg cell and the sperm cell there is no separation of a separate pair of 18 chromosomes or after fertilization two lines are present (with 46 and 47 genetic cells), Edwards syndrome occurs.The reasons for it, therefore, do not depend on external factors.

Symptoms

Most babies are born with low birth weight. Edwards syndrome is accompanied by numerous disorders and deformities affecting both the appearance and internal organs. In addition to microcephaly, other symptoms may include: narrow palpebral fissures, defects of the cornea and irishereditary syndromes, cleft lip and (or) of the sky, low set, dysplastic earlobes, excess skin on the neck, dislocation of the hip, deformation of the fingers, spinal disjunction, frequent heart defects - anomalies of the interventricular septum. Manifestations also affect kidney and urinary tract function. There is mental retardation. Newborns diagnosed with Edwards syndrome cannot fully eat and control the swallowing reflex. Therefore, during feeding, they often have suffocation or vomiting. If, due to developmental defects, the use of traditional methods (breastfeeding or a bottle) is not possible, nutrients are fed through the nose or mouth with a probe.

How is a disease diagnosed?

Edwards syndrome can be easily detected during a medical examination of a child, as well as through a chromosomal test. Using this analysis, you can determine the type of trisomy (simple, translocation or mosaic). During pregnancy, abnormalities can be detected by examining fetal chromosomes, by chorionic biopsy orcause edwards syndromestudy of placental fluid. Today, the only way to eliminate hereditary syndromes is in vitro fertilization with pre-implantation diagnosis. This means that the embryo undergoes a complete genetic examination before the woman enters the uterus. This procedure allows you to select and implant only healthy embryos.

Forecast

Unfortunately, because of the short life of the majority of children who have developed Edwards syndrome, there is no universal therapy. If a child has been living for more than 5 years, he, as a rule, needs constant care and assistance in moving. His cognitive abilities are also affected, and communication skills suffer. A child smiles at the sight of a loved one and is able to learn to eat.But it should be remembered that almost all hereditary syndromes in children will require from parents infinite hellish work, constant learning and incredible dedication and patience. For those who love, nothing is impossible and it is possible to significantly improve the living conditions of a child, although he will never be able to heal.

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