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Edwards syndrome, also known as Trisomy 18

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Edwards syndrome develops early in pregnancy. It is a congenital disorder such as Down syndrome, although it is much less common. This syndrome develops at the same time as the fertilization of the egg by the sperm, so if the development of pregnancy is fulfilled, the child will be born with the syndrome. It is a very serious condition, children have a severe mental disability.

People with Edwards syndrome have too many chromosomes

There are chromosomes in all our cells. Chromosomes consist of deoxyribonucleic acid, better known as DNA. DNA determines how it looks and how everything works in our bodies. It regulates the development of our organs, such as the brain, heart, and kidneys. Each cell consists of 23 pairs of chromosomes. Someone with Edwards syndrome has not two but three copies of a particular chromosome (chromosome 18) in each cell. That’s why Edwards syndrome is also called trisomy 18. There’s an extra chromosome, so there’s too much DNA, too. Because of this, all kinds of processes in the body get confused. The physical and mental problems that people with Edwards syndrome have are caused by the extra chromosome.

Trisomy 18 is usually not hereditary, only occasionally. That depends on the exact change in chromosomes. In most children with Edwards syndrome, the extra chromosome is present in the cell as a loose copy. That extra chromosome is then often the result of an error in the division of chromosomes into the mother’s eggs or in the father’s sperm. Instead of dividing into two separate cells, chromosomes 18 end up in the same egg or sperm.

Early detection and diagnosis

You can do an exam when you’re pregnant to see how likely your baby is to have the syndrome. This test is done early in pregnancy. This is a parent option, you can choose if you want to be tested.

There are two different tests for Edwards syndrome:

The combined test (a mother’s blood test and baby ultrasound) may be done between 9 and 14 weeks of pregnancy. The combined test calculates the chance your baby has Down, Edwards, or Patau syndrome.
The NIPT. This is a blood test on the mother. The test is possible from 11 weeks of pregnancy. NIPT indicates if there is any evidence of Down, Edwards, or Patau syndrome in your baby.

The ultrasound exam often reveals congenital abnormalities,  like:

– A crease of the thickened neck.

– Brain abnormalities.

– Heart abnormalities.

– That it lagged behind in growth.

– Abnormal position of hands and feet.

There is an increased risk of abortion (late). After 16 weeks of pregnancy, this probability is still almost 70.

If Edwards Syndrome is diagnosed during pregnancy, there is also a possibility of discontinuing it. It’s a very difficult time, with very complicated decisions to make.

 

Symptoms and consequences

Children with trisomy 18 who are born alive are almost always too small and have low birth weight. Besides, the brain isn’t well developed. As a result, they are often severely disabled. In addition, they usually have a severe heart defect and abnormalities of other organs. They may also have trouble breathing and develop pneumonia easily. They have serious difficulty swallowing and therefore have trouble drinking.

Physical characteristics: Children with Edwards syndrome usually have smaller faces and heads. Also, the feet and hands often have a different position.

So in summary congenital abnormalities may include:

– Children with Edwards syndrome often look different. They have a smaller head and facial abnormalities. In addition, the feet and hands are often attached differently to the legs and arms.
– They have cleft or orifice in the upper lip, jaw, and/or palate.
– Congenital heart defects.
– Abdomen open. When the umbilical cord is attached, the abdominal wall is not closed.
– Kidney abnormality.
– Outstanding heel bone.
– A severe mental disability.

– They usually also have vascular malformation, with the appearance of crosslinked erythematous or violet maculate maculates.

Most children die during pregnancy or shortly after birth. Children with Edwards syndrome almost never get past the year. This is because they have very serious physical and mental problems. In rare cases, life expectancy becomes longer than 1 year, approximately 1 in 10 to 20 children born alive with Edwards syndrome becomes greater than 1 year. His health in that case is very weak. For example, they quickly get infections in the lungs. Doctors make sure the child feels as comfortable as possible while he or she is alive.

 

Edwards syndrome is rare

Out of every 10,000 live births, an average of four have Edwards syndrome. The chance of having a child with Edwards syndrome increases with age. The following table shows the average probability of having a child with Edwards syndrome at different mother ages.

Pregnant age Possibility of having a child with Edwards syndrome:

  • 20 – 25 years 4 out of 10,000
  • 26 – 30 years 4 to 5 out of every 10,000
  • 31 – 35 years 7 out of every 10,000
  • 36 – 40 years 17 out of every 10,000
  • 41 – 45 years 64 out of every 10,000

Treatment is not possible

Trisomy 18 is incurable. Treatment and guidance are different for each child and aim to make the child as comfortable as possible.

Prenatal Treatment

There is no effective and proven treatment for Edwards syndrome. Parents often decide to terminate the pregnancy when they know the fetus suffers from the syndrome. Other women choose to take the pregnancy to term, which often leads to a miscarriage or stillbirth. For parents and the child’s environment, psychological and emotional support in this important decision and its consequences is essential.

Postnatal Treatment

Treatment for a live-born child focuses on immediate life-threatening problems, such as infections and heart problems. Tube feeding is a possible option if your child has nutritional problems. A patient with mobility problems will receive physical therapy and/or occupational therapy. Emotional and psychological support is also important for parents and the environment of children born with this syndrome.

As I said earlier the prognosis of trisomy 18 is bad, some children survive until early adulthood, but this is very rare.

 

All the information we give you in this article is indicative as each child and each family is different and unique.

 

 

Carolina González Ramos

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