Edwards syndrome is a chromosomal genetic abnormality that is defined by the appearance of an extra copy of chromosome 18. The condition is also called trisomy 18. It is an extremely severe congenital malformation. Most children are aborted before they are born. Those who manage to give birth live with numerous physical abnormalities and mental retardation that usually induce death very quickly after birth.
What is the cause of Edwards syndrome?
Chromosomes are bundles of genetic material that combine when the egg is fertilized by the sperm. All cells in the body should contain 46 such packages, 23 each from each parent.
Occasionally, there may be a mistake in the preparation of the egg or in the early division of cells in the embryo so that a wrong number of chromosomes can appear in the embryonic tissue.
This is an error that appears in the plan of growth and development of the fetus, and depending on the chromosome implications, it can give rise to major health problems and even death before birth. In Edwards syndrome there is an additional chromosome 18 (trisomy 18). Normally there should be only 2 copies of this chromosome.
What are the symptoms of Edwards syndrome?
The effects of the extra presence of copy of chromosome 18 are visible in newborns. Most of them are underweight and have a weak appearance. Other manifestations specific to the anomaly are:
- prominent head;
- very small head;
- small size of mouth and jaw;
- included handcuffs (the baby always holds the fists tight);
- ears malformed and inserted down;
- short neck and loose skin;
- eyes wide open;
- the inability to feed properly;
- short sternum;
- small pelvis.
There are also a lot of problems and disorders of the internal organs associated with the visible symptoms in children. These are often located in the lungs and muscles of the diaphragm. Cardiovascular diseases and abnormalities are also present. Neither the kidneys nor the urogenital tract are free from problems. The syndrome leads to mental retardation and significant growth retardation.
How is the syndrome detected?
It can be diagnosed again during pregnancy. If the doctor monitoring your pregnancy suspects a congenital anomaly in the fetus, he will recommend you to have an amniocentesis. It is a test that is done at the beginning of pregnancy and that analyzes in detail the cells of the fetus and can detect the most serious congenital anomalies (for example Down syndrome).
Edwards syndrome can also be detected during pregnancy and when performing ultrasound or by sampling chorionic villi. After birth, the doctor can diagnose the disease only after testing the karyotype. The symptoms are most often obvious, but the test should be done to confirm the anomaly. This involves taking blood samples or harvesting tissue from the spinal cord and microscopic examination of the chromosomes.
How is trisomy 18 treated?
Unfortunately, there is no cure to completely cure the disease. Therapeutic behavior focuses on correcting and treating symptoms. Part of the deformations can be corrected by surgery. However, physicians are more focused on alleviating the suffering and pain of children and are less concerned with extending their lives.
What is the survival rate?
The prognosis regarding survival chances after birth is reserved and unfavorable. In most cases, girls are aborted or die at birth. The baby born with Edwards Syndrome is extremely flaccid and cannot withstand more than 6 months, at best.
However, it is an extremely rare genetic abnormality, the specialists claim that it occurs in 1 case out of 8000. The risk of giving birth to a child with this syndrome increases as the age at which you become pregnant is higher.
Tags Congenital malformations Genetic diseases Amniocentesis