What is Edwards Syndrome: characteristics

Definition: What is Edwards syndrome?

Edwards syndrome, also called trisomy 18 , is a genetic mutation which includes a third chromosome 18 in some cells of the body. As we know, humans have 23 pairs of chromosomes, but if one pair has 3 pairs, an anomaly occurs.

It should be noted that this is a congenital anomaly, and although it is not hereditary, it does depend on the genetic material used to conceive (sperm or egg). This condition occurs in approximately one in every 6,000 births and one in every 2,500 pregnancies. Moreover, the number of girls who suffer from it is three times higher than that of boys.

Although this chromosomal disease There's no cure, but there is treatment to increase life expectancy. In any case, it's a complex and multi-symptomatic condition, which makes treatment very difficult.

Characteristics of Edwards syndrome

Edwards syndrome can be diagnosed before birth. In any case, there are some characteristics that should be known. These are:

1. Most common spontaneous abortions

The first problem associated with this syndrome is that the chances of suffering from miscarriages They are much older; in fact, more than half of pregnancies involving babies with trisomy 18 do not reach term. It's also more likely that the baby will be stillborn. We must keep in mind that, beyond the problems and symptoms, the fetus is usually weak.

2. Very low life expectancy

The life expectancy of a child with Edwards Syndrome, after birth, is Extraordinarily low . For example, more than 50% of children die in the first week of life, between 90 and 95% do not live to see their first birthday, while it is rare for them to reach 10 or 12 years of age. The multiple physical complications associated with this syndrome also mean that the quality of life is greatly improved.

3. Head malformation

One of the visible characteristics of this disease is that the The head is deformed , excessively small. The unusual shape is also striking; this is one of the first elements to be identified and provides clues if the diagnosis has not been made during pregnancy. In fact, abnormal placental problems are often present during pregnancy.

4. Bone and growth malformations

Another common element of Edwards Syndrome is the numerous bone and muscle malformations This also involves growth delays. Some are visible, while others are not. We emphasize the following cases:

• Overlapping fingers, with deformities and nails that do not grow.
• Closed fists. It is extremely difficult to open them.
• Rocker-shaped feet, underdeveloped. This makes it very difficult for children to walk normally.
• Underdeveloped, keel-shaped chest. Clearly, this is a departure from most children his age.

All of this, combined with a lower-than-normal birth weight, means that growth is more complicated.

5. Structural heart problems

The heart problems are another of the drawbacks associated with trisomy 18. It should be noted that, most often, they are related to an abnormal shape or size of the heart. Therefore, the heart may not pump blood at the same rate or in the same way. This causes the muscle to not function properly and causes various types of heart conditions to multiply.

6. Predisposition to certain types of cancer

A person with trisomy 18 is much more likely to develop certain types of cancer. And remember, certain tumors are rare in childhood. Specifically, a much higher likelihood of developing certain types of cancer has been documented. liver cancer and of kidney , above all.

Similarly, children with this condition are also more likely to experience problems in these parts of the body. Consequently, early monitoring is often necessary.

7. Intestinal disorders

The intestinal conditions They are also more common in people with Edwards syndrome. This is due to a lack of development or a tendency for the digestive system to not function properly. When this happens,

8. Cognitive delay

Finally, the cognitive delay It's common in these cases. People born with this trisomy tend to take longer in the learning process. However, this delay varies in degree depending on each case.

How to correctly diagnose trisomy 18?

Today, there are several ways to correctly diagnose trisomy 18. It should also be noted that some of these diagnostic methods are prenatal. Let's see...

Blood test

Once eye exams and ultrasounds have been performed, more specific screening tests can be done. With a prenatal blood tests You can determine if your baby has trisomy 18 by taking a peripheral blood sample. In principle, this is sufficient to perform a genetic analysis and confirm or rule out the possibility.

Prenatal genetic testing

One variant is the Amniocentesis , which is also performed starting from the 15th week of pregnancy. In this case, a sample of amniotic fluid is taken from the placenta and analyzed to check for any abnormalities. While this test involves some additional discomfort, if there are sufficient indications, it is usually performed in conjunction with other potential problems.

Ultrasounds

The Ultrasounds , although very general, can also be used to detect any abnormal fetal malformations. However, an ultrasound can't provide a definitive picture until the 18th or 19th week of pregnancy. It's an initial test that, if it reveals anything unusual, will be used to order more comprehensive tests.

In summary…

Edwards Syndrome is one of the most serious and common congenital conditions in existence. Do you want to know if your offspring are likely to suffer from it? Genotics You'll find different genetic tests classified by type, complexity, price, and delivery times. Clear up any doubts !