What is Edwards Syndrome, What are the Symptoms, How is it Diagnosed?

Edwards Syndrome, known as the disorder of the 18th chromosome in the cell, is seen as Edwards syndrome with 18 trisomy when it is seen not 2 but 3 times in body cells. It is one of the most common diseases right after chromosomal abnormal disease.

Symptoms of the disease appear according to the number of abnormal cells. In patients with Trisomy 18 who have symptoms, symptoms such as heart and respiratory disorders, abnormalities in face and head shapes, learning difficulties are encountered. In general, being 35 years old or older can be considered as a risk factor.

What Are the Symptoms of Edwards Syndrome?

The prenatal symptoms of Edwards syndrome, which can be observed after birth or in the womb, are as follows;

• Stenosis of the placenta
• Decreased movement and limitation
• Single-vessel umbilical cord due to malnutrition
• Anencephaly
• Cleft palate and lip
• Incomplete formation of the eye and heart

Symptoms that may occur after the birth of the baby:

• Low birth weight
• Retardation of growth
• Abnormal deformities of the ears, hands and feet
• Mental retardation
• Small chin
• Developmental delay in fingernails
• Small mouth and chin
• Small head diameter
• Underdevelopment of the esophagus

How Is Edwards Syndrome Diagnosed?

Edward's syndrome can be determined with double and triple tests similar to the tests performed in Dawn syndrome. Although double and quadruple tests are used since the tests do not show obvious symptoms, DNA test and fetal, amniotest CVS tests should be performed for a definitive result. According to the tests, normal values ​​should be 1/100. However, a trisomy of 18 indicates a risk. The final result is obtained by looking at the postnatal chromosome values.

Edward's Syndrome Treatment

Since there is no treatment method in Edwards syndrome yet, the life expectancy of babies with this chromosome is short. Even if the anomalies in the bodies of babies are reduced by medical treatment, it is not possible to prolong their lives like normal people. In the first weeks of pregnancy, when the diagnosis is made, the pregnancy may need to be terminated.

Can Trisomy 18 Recur?

Someone who has been pregnant with Edwards syndrome is afraid of losing their baby again due to the same disease. People who have a baby with Edwards syndrome, which occurs due to genetics, may also have the second one. It should be determined whether Edwards syndrome is present in repeated pregnancy by performing genetic tests.

Causes of Edwards Syndrome

The syndrome results from the failure of the egg cells to divide into two parts during meiosis. As a result of irregular fertilization, the chromosomes are not evenly distributed, so the chromosome numbers are not equal. There is a risk of Edwards syndrome due to the chromosome that changes depending on the cell. The advanced age of the mother and father also creates a risk factor. When there is a genetic problem, the baby may have symptoms of Edwards syndrome.

How Is the Edwards Syndrome Test Done?

Edwards’ test, which is one of the tests that should be done during pregnancy, is applied to many people. It is generally appropriate to do the test in the first weeks. By performing tests such as the Edwards test, the double test, the triple test, and the ultrasound image, where more comprehensive details can be seen for diagnosis, cysts in the baby's brain, excess water, and abnormalities in the chromosomes help for a definitive diagnosis.

DNA and fetal tests are also necessary for diagnosis. The symptoms in which risk formation is displayed are such as to confirm the possibility of the disease. Chromosomal abnormalities are determined by analyzing blood taken from the pregnant woman. The tests to be done can be done from the 10th week of pregnancy. According to the results, termination of pregnancy is indicated by your doctor. It is important for the health of the mother and the baby to do the necessary tests for the baby in order to avoid problems during pregnancy. If there is a problem from their families, it is very important for people who want to have a baby to know these risks before pregnancy. Without treatment, there is a risk of death in the womb. Treatments should be provided for the quality of life of babies born right.