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Edwards’ syndrome is a genetic disease that is detected in the prenatal period. Most often it causes a spontaneous miscarriage. If a baby is born, it has a genetic burden of congenital abnormalities caused by chromosome 18 trisomy.
Edwards syndrome – causes
The cause of Edwards syndrome is an abnormal structure of the genetic material, which consists in a change in the number of chromosomes – an additional, third chromosome 18 appears (there are two 18 chromosomes in a healthy embryo). The production of all or part of an additional chromosome 18 may take place during the production of reproductive cells (egg, sperm) – the so-called nondjunction, or in the early stages of embryonic development (which can lead to mosaicism). Edwards’ syndrome is not hereditary – disorders occur spontaneously.
Edwards syndrome – symptoms
Additional genetic material interferes with the development of the organism, causing a number of defects. Their degree of severity (moderate to severe) depends on the type of genetic disorder (the presence of all or only part of an extra chromosome) and the number of cells with an abnormal amount of genetic material. The symptoms of Edwards syndrome are:
- low birth weight,
- microcephaly,
- protruding occipital bone,
- low seating and distortion of the auricles,
- small lower jaw (micrognation),
- cleft lip or palate,
- the newborn’s hands are clenched into fists, with the index finger overlapping the remaining fingers and the fifth finger overlapping the fourth finger,
- defects of the respiratory system,
- abnormalities in the structure of the diaphragm,
- hernia (most often umbilical and inguinal),
- urinary system defects,
- blood vessel malformations,
- in boys – testicles not descending,
- defect in the atrial and inter-septal septum or patent Botalla duct,
- wide setting of the eyes (hypertelorism), ptosis, not fully developed thumbs and / or nails, deformation of the feet,
- no radius bone,
- choroid plexus cyst.
Edwards syndrome – after having a baby
Children with Edwards syndrome, apart from the symptoms mentioned above, also have difficulties in eating – they have poorly developed sucking reflex and do not fully control the swallowing reflex. During feeding, there may be choking, vomiting, reflux, which is why tube feeding through the nose or mouth is practiced. Older children require assistance with walking, and their communication abilities are limited.
Edwards syndrome – diagnosis before birth?
Edwards’ syndrome can be diagnosed at birth by the presence of characteristic developmental anomalies. Physical examination of the infant may show the presence of the index finger overlapping the remaining fingers, an X-ray image – shortening the length of the sternum. However, the most reliable method to confirm the initial diagnosis is to test the child’s karyotype. A blood sample is taken from the newborn and then, using special dyes, the presence of an additional 18 chromosome is detected using a microscope.
Any doubts and concerns that arise during pregnancy should be consulted immediately with a gynecologist during a quick and safe online consultation.
Edwards’ syndrome can be diagnosed in a child before birth (based on the results of maternal fetal alpha protein levels, amniocentesis or chorionic villus sampling). The first suspicion of abnormal development of the fetus may be caused by excessive enlargement of the uterus in a pregnant woman (resulting from the presence of a very large amount of amniotic fluid).
Edwards syndrome – Can you talk about treatment?
So far, modern medicine does not have effective tools for the treatment of Edwards’ syndrome. Surgical treatment is possible for some defects. However, it is often extremely risky, taking into account the already short life expectancy of the child. In most cases, treatment is reduced to supportive therapy that improves the quality of life rather than extending it.
Due to the weakening of the intestinal muscle tone, children may develop (and persist throughout their lives) constipation. Doctors often recommend treating them with diet or stool softeners, lactose etc. In these children, it is not recommended to use an enema due to the risk of dehydration and / or electrolyte disturbances.
Children with Edwards ‘syndrome are at risk of developing Wilms’ tumor (kidney cancer). Therefore, it is recommended to periodically perform an ultrasound of the abdominal cavity.
When we learn about a child’s illness, we want to provide the best care for him. It is worth considering the purchase of a family 2 + 1 medical package. In this way, we will gain access to comprehensive medical care that will give us a sense of security.