Understanding the Causes and Types of Edward's Syndrome

Edward's syndrome is also known as trisomy 18. This syndrome is characterized by abnormalities of the baby in the head, hands, heart, kidneys, deformities in the ear and growth disorders. A distinctive feature of the hands of infants who experience this syndrome is the palms in a state of holding with overlapping fingers. Edward's syndrome is a congenital disorder that occurs when the baby is still in the womb. The cause is genetic factors. Edward's syndrome is the second most common genetic disorder after trisomy 21 or better known as Down syndrome. Actually these two syndromes are rare, but when they occur, the condition can be said to be serious.

Causes of Edward's Syndrome

Before discussing the causes of Edward's syndrome, you should first get to know the chromosomes. A chromosome is a part of a cell that looks like a thread and is responsible for supporting genes. This gene always carries a clue in the formation of the body of the fetus. At the time of conception, which is when sperm and egg cells join, the chromosomes join. The fetus gets 23 chromosomes from the mother and 23 chromosomes from the father. The total number of chromosomes is 46. However, sometimes parents' sperm or egg cells have the wrong number of chromosome abnormalities. This is found in normal parents but is a carrier. This number error is passed on to the fetus. The term "trisomy" means a baby has more chromosomes than he should. For example, a chromosome that normally has only two or a pair, in trisomy, there are three chromosomes. In Edward's syndrome, chromosome number 18 contains three. This then triggers the growth of the baby's organs does not take place properly.

Types of Edward's Syndrome

There are three types of Edward's syndrome. This type of division is based on the condition of the number of chromosomes that appear in more numbers. These types are:

• Trisomy 18 mosaics

This is the mildest type of Edward's Syndrome. The condition of this type is that only a few cells have an additional 18 cells. The fewer cells with excess chromosomes, the milder the condition of Edward's syndrome. However, the condition of babies who are equally experiencing mosaic trisomy 18 may be different from each other. Some babies with mosaic trisomy 18, can live at least until the first year of life. There are also those who can survive into early adulthood, but very rarely.

• Trisomy 18 partial

This type of Edward's syndrome is somewhat intermediate or more severe than mosaic trisomy 18. As the name implies, partial trisomy 18 occurs when only a portion of an additional 18 chromosome appears in a cell. This condition greatly affects the development of the baby in the womb. The severity depends on which part of chromosome 18 appears on the cell.

• Trisomy 18 is full

This is the most common condition of Edward's syndrome. Full trisomy 18 is a condition in which all parts of chromosome 18 are added to all cells of the baby's body.

Confirming the Diagnosis of Edward's Syndrome

When the baby is still in the womb, the doctor will check for the possibility of Edward's syndrome by doing an ultrasound examination. This method is actually less accurate. To be more accurate, the doctor must take cell samples from the amniotic fluid or placenta, for an analysis of the condition of the chromosomes. If the baby is born, the doctor checks it by observing the face and limbs. Babies with Edward syndrome generally have one of the characteristics of holding hands with an unusual position and overlapping fingers. In addition, a blood chromosome examination can be done to confirm the condition of trisomy 18. Blood tests can also predict the possibility of the next pregnancy in the mother, will have a baby with the same condition or not. Unfortunately, babies with Edward syndrome have mostly died in the womb, or died in the first week after birth. There are also babies with Edward syndrome who live past their first year, but the numbers are only 5-10 percent. Until now there was no specific treatment for Edward's syndrome. But medical care can be given to provide the best quality for a baby's life.