Wednesday 17 August 2016

Edwards Syndrome

Edward Edwards' syndrome syndrome, also known as trisomy 18 "Trisomy 18", and is a serious genetic condition caused by the presence of an extra copy of chromosome 18 in some or all cells of the body.

Each cell normally on the 23 pairs of chromosomes that carry the genes that a person inherits from his parents, but a child with Edward's syndrome is has three copies of chromosome 18 instead of two copies.

This case impede normal growth of the fetus, which lead to miscarriage or fetal death in many cases.

Infected embryos growth syndrome Edward be slow in the womb, as low weight at birth to be, along with a number of other serious health problems. Among those who survive until birth, die about 50% in two weeks, and live about 20% of them only three months at least.

While about 8% of infants with the syndrome may live more than a year, suffering with severe physical disabilities and mental. Some children may live up to the early years after puberty, but that is very rare.

Edwards Syndrome affects almost born and one in 3000-6000 births.

Features and symptoms

Children can be affected by Edward's syndrome suffer from a wide range of different problems.

Physical signs of Edward's syndrome include

  The small size of the head, with the presence of abnormalities in shape.
     Small jaw and mouth size.
     Long fingers and thumb overlapping with minus embryogenesis prove with a fist.
     Drop the subject of the concentration of the ears.
     Varus foot curved smooth (with a round base).
     The existence of an incision in the lip and palate cleft lip and palate (hole or crevice or cleft in the upper lip or roof of the mouth).
     Hernia Srra exomphalos (where trapping intestine in a bag outside the abdomen).

Children with Edward's syndrome suffer generally from the following health problems as well:

Kidney and heart problems.
     Problems in nutrition, lead to weaker growth.
     Respiratory problems.
     Hernia in the stomach wall (where the internal tissue push through a weak position in the muscular wall).
     Bone deformities bone abnormalities, such as curvature of the spine curved spine.
     Lungs, urinary tract infection and repeat.
     Severe deficits in learning ability.
  
How Edward syndrome occur

Rarely inherited Edwards Syndrome, and this case arise from something done by the parents
.

Three copies of chromosome 18 appears at random during the formation of eggs and sperm normally. There have been an error in cell division, and the extra chromosome is transmitted to the egg produced by the mother or the sperm cell produced by the father's cell.

 As this problem occurs randomly, it is very unlikely to happen more than download an infected syndrome Edward at the same parents.

Increase of having a baby syndrome Edward opportunities with the mother of aging.

There is a rare form of Edward syndrome is called trisomy 18 partial Partial trisomy 18, and can sometimes Heritable. In such cases, the risk of having a baby with this syndrome is about 25%.

 Types of Edwards Syndrome

Full form

Edward's syndrome are at about 94% of children living with them are full format, as has every cell in the body three copies of chromosome 18 instead of two copies. Most children infected and die with this type of syndrome early in the infancy stage.

Trisomy 18 mosaic or Almaziq

 In about 5% of children with this type of Edwards Syndrome, there is an extra copy of chromosome 18 in some cells of the body only. This is known as the shape least the severity of the disease Ptthelt chromosome 18 or Almaziq mosaic mosaic trisomy 18.

The severity of the injury depends Ptthelt chromosome 18 mosaic on the type and number of cells containing the extra chromosome; and so, you may be infected, some children are relatively mild, while more severity and disability when others.

 About 70% of infected newborns live Ptthelt mosaic chromosome 18 for at least one year, have live children with this condition until the post early puberty in rare cases.

Tests diagnosed Edward syndrome during pregnancy

Edward's syndrome during pregnancy often reveal period; therefore, some parents choose to get rid of the pregnancy after confirmation of the validity of the diagnosis, because of the cruel nature of this case.

 In about 90-95% of the cases, the evidence shows the likelihood of injury to the child syndrome Edward through regular monitoring of the embryo imaging ultrasound at 18-20 weeks of pregnancy.

The blood test early ultrasound examination to look for Edwards Syndrome can submit evidence of the child's injury this syndrome as well.

 Diagnosis can be confirmed by sampling the chorionic villus chorionic villus sampling or amniocentesis (amniotic fluid) amniocentesis, where he conducted these tests are invasive (prey) invasive during pregnancy to get a sample of tissue or fluid, and the investigation of the presence of an extra copy of chromosome 18 .

Has been the development of modern testing is also a sample of the mother's blood is taken in which to investigate DNA genetic DNA of the fetus found in it. This test is known as the "prenatal diagnosis is invasive non-invasive prenatal diagnosis".

 Treatment

There is no cure for the syndrome, Edward, as it may be difficult to measure symptoms. It is likely that the person needs the help of a large group of health professionals.

Treatment focuses on the management of life-threatening problems first, as cases of infection and heart problems. The child may need to be fed through a feeding tube, too, if there was a problem in nutrition.

 If the parties distortions affecting the child's movements with advancing years, they benefit from supportive therapy, such as physical therapy and occupational therapy.

According to the quality problems of the child, he needs to be in a private hospital or in care centers, or there may be a possibility for his care at home with access to appropriate support care.


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