Edwards syndrome-pictures, causes, diagnosis, treatment

Today we talk about a fairly rare children's disease, with a large number of anomalies and developmental disorders. We will talk about Edwards syndrome. Let us examine its causes, forms, frequency, manifestations, methods of diagnosis and other important issues.

What is this?

Edwards Syndrome - a disease caused by chromosomal abnormalities, causing a long list of violations and deviations in child development. Its cause is trisomy of the 18th chromosome, i.e. the presence of her extra copies. This fact leads to complications of a genetic nature.

The Risk that a child will be born with Edwards syndrome is 1 case out of 7,000. Unfortunately, most babies with this deviation die in the first weeks of life. Only about 10 % live to one year. The disease leads to severe mental retardation, congenital lesions of the internal and external organs. The most common of them - is a malformation of the brain, heart, kidney, small head and jaw, cleft lip or palate, clubfoot.

First formed and described the symptoms of the disease was in 1960 by D. Edwards. The doctor was able to establish the relationship between the manifestation of symptoms of, found more than 130 defects that accompany the disease. Even symptoms of Edwards syndrome are manifested very clearly, current therapies against them, powerless.

Cause of disease

If Edwards syndrome (photo sick children for ethical reasons will not be posted) were diagnosed during pregnancy, most often the latter ends in miscarriage or stillbirth. Alas, the manifestation of the disease in the fetus to prevent today.

Also in modern times not found clear reasons for this genetic disease, why, and preventive measures against the development of his future children form is impossible. However, experts have identified risk factors:

• Adverse environmental conditions.
• Exposure to radiation, toxic, chemicals parents.
• Addiction to alcohol and tobacco.
• Heredity.
• The Intake of certain medications.
• Incest, consanguinity of the parents.
• Age of the expectant mother. If a woman is older than 35 years, it is considered a cause of Edwards syndrome in the child, as well as other chromosomal defects.

Forms of the syndrome

The type of this anomaly primarily affects the stage of embryo development where the embryo overtakes syndrome. Only there are three different types:

• Complete. The most severe type, accounting for 80% of cases. Triple chromosome appears at a time when fruit was only one cell. It follows that an abnormal chromosomal set will be sent by dividing and all other cells observed in each of them.
• Mosaic. The name was given due to the fact that the healthy and mutated cells are mixed like mosaic. 10 % affected symptom Edwards suffer this form. The signs of the disease is found here is weaker, but still interfere with the normal development of the child. Excess chromosome that appears during the phase when the embryo consists of several cells, so affects only part of the body or a separate body.
• Possible translocation. Here there is not only neraskhozhdenie of chromosomes, but the overabundance of information generated by translocation rearrangement. As is evident during maturation of the gametes and during embryo development. Deflection is not pronounced.

The Prevalence of the syndrome

The Risk of Edwards syndrome cannot be expressed in exact figures. The lower bound of the child's birth with this anomaly is 1:10000, top - 1:3300. When this occurs it is 10 times less common than down syndrome. The average conception of children with the disease, Edwards ' above - 1:3000.

According to research, the risk of having a baby with this syndrome increases with the age of the parents more than 45 years of 0.7 %. But he is present in 20-, 25-, 30-year-old parents. The average age of the father of a child with Edwards syndrome - for 35 years, mother of 32.5 years.

Anomaly is also associated with gender. Proven that the girls she meets in 3 times more often than boys.

Syndrome and pregnancy

Shows the signs of Edwards syndrome at the stage of pregnancy. The latter occurs with a number of complications typical delayed - kids born around 42 weeks.

At the stage of pregnancy disease of the fetus characterized by the following:

• Lack of activity of the embryo.
• Bradycardia - decreased heart rate.
• Polyhydramnios.
• A Mismatch between the size of the placenta the size of the fetus - it has a smaller size.
• The Development of one umbilical artery instead of two, which leads to oxygen deficiency, asphyxia.
• Hernia of the abdominal cavity.
• Plexus vascular lesions visible on ultrasound (detected in 30% of children afflicted with syndrome).
• Underweight fetus.
• Malnutrition is a chronic disorder of the gastrointestinal tract.

60% of children die already in the womb.

Prenatal diagnosis

Edwards Syndrome ultrasound may be determined only by circumstantial evidence. The most accurate method of diagnosis of syndrome in the fetus today - and perinatal screening. Based on it in case of an alarm of suspicion, the doctor refers the woman to invasive testing.

Screening, inspecting the karyotype of Edwards syndrome, is divided into two stages:

1. The First is performed at 11-13 weeks of pregnancy. Investigated biochemical parameters - checks the mother's blood for hormone levels. The results at this stage are not final - they can only speak about the presence of risk. For the calculations the expert need protein A, HCG, a protein produced by the membranes of the embryo and the placenta.
2. The Second phase is aimed at an accurate result. For the research a sample of cord blood or amniotic fluid, which then falls down to the genetic analysis.

Invasive testing

Chromosome Edwards syndrome is likely to determine by this method. However, it necessarily involves surgical intervention, and penetration of the shell of the embryo. Hence the risk of miscarriage and complications, and why the test is assigned only in extreme cases.

There are three types of sampling:

1. BVH (chorionic villus sampling). The main advantage of the method - the sample is taken starting from the 8th week of pregnancy, allowing the early stages to identify complications. For research need a sample of the chorion (one of the shell layers of the placenta), whose structure is similar to the structure of the embryo. This material allows you to diagnose intrauterine infections, genetic and chromosomal diseases.
2. Amniocentesis. The analysis is carried out starting from the 14th week of pregnancy. In this case, the probe pierced the amniotic sheath of the embryo, the instrument collects a sample of amniotic fluid containing cells of the unborn child. The risk of developing complications from such a study is much higher than in the previous case.
3. Cordocentesis. The deadline is no earlier than 20 weeks. Here is a sample of umbilical cord blood of the embryo. The difficulty is that when you take material from a specialist no margin for error - it needs to get the needle exactly in a vessel of the umbilical cord. In practice it happens this way: through the front wall of the peritoneum in women is introduced puncture needle, which gathers approximately 5 ml of blood. The procedure is performed under control of ultrasound device.

All of the above methods can not be called painless and safe. Therefore, they performed only in cases where the risk of genetic disease in the fetus is higher risk of complications from sampling of material for analysis.

Parents need to remember that the error of the physician during the procedure can lead to the manifestation of serious diseases, birth defects in the unborn child. We can not exclude the risk of sudden abortion against such interference.

Non-invasive testing

Diagnosis of Edwards syndrome in a fetus includes non-invasive methods. That is without penetration into membranes. Moreover, these exact methods are not inferior to the invasive.

One of the precise analysis of this type can be called karyotyping. This is a sample of maternal blood containing free fetal DNA. Specialists remove them from the material, copy, and then conduct the necessary research.

Postnatal diagnosis

A Specialist can determine children with Edwards syndrome and appearance. However, the formulation of the final diagnosis are the following procedures:

• Ultrasound investigation of the pathology of the internal organs, necessarily of the heart.
• Imaging of the brain.
• Consultation with a pediatric surgeon.
• Survey of specialists, endocrinologist, neurologist, otolaryngologist, ophthalmologist, who has previously worked with children suffering from this disease.



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