Edwards syndrome is a rare genetic disorder that very often leads to a spontaneous miscarriage at the beginning of pregnancy. If a child is born, he or she is struggling with many diseases, as the disease causes many developmental abnormalities. What are the causes and symptoms of Edwards syndrome? What is its treatment? Is Edwards syndrome hereditary?

Edwards syndrome - what is this disease?

Edwards syndrometogenetic diseaseconsisting in the appearance of an additional, third, chromosome 18 in DNA - the so-calledtrisomy of the 18th chromosome . This defect causes abnormalities in the structure of many of the child's organs and the accompanying dysfunctions.

Edwards' syndrome, which happens once in 5,000 (according to other data, every 3,500) births, occurs especially in girls - four times more often than boys.

This genetic disease is almost 95 percent leads to spontaneous abortion in the first trimester of pregnancy. Most babies with Edwards' syndrome live for a maximum of two months after birth, but 5 to 10 percent live more than a year. It depends on the severity and number of defects caused by the disease.

What does a child with Edwards syndrome look like?

A baby with Edwards syndrome is much smaller than a normal newborn.

A characteristic feature of a child with Edwards' syndrome is wide-set eyes (hypertelorism), often with a drooping upper eyelid. The child also has:

  • clenched fists, often with overlapping fingers,
  • uneducated thumbs and nails,
  • and deformed feet.

There is a cyst of the choroid plexus in the skull, i.e. a reservoir with fluid.

Besides, in a child with Edwards syndrome:

  • the functions of many systems are disturbed, e.g. respiratory and circulatory system,
  • heart defects, umbilical hernia and inguinal hernia are common, in boys there is no descenttesticles.

A child with Edwards syndrome, usually unable to eat by itself, must be fed through a tube or through a gastrostomy (a fistula leading directly to the stomach).

Children, even if they survive for more than a year, are unable to walk on their own and their cognitive and communication abilities are very limited. The condition of the child is difficult all the time and requires constant medical care, even if it is possible to take the child home.

Edwards syndrome - photos

Edwards syndrome - hands

Characteristic of Edwards syndrome is a clenched hand with overlapping fingers:

Edwards syndrome: risk factors

The risk factors for developing Edwards syndrome are:

  • advanced age of mother (over 35)
  • having a balanced chromosomal translocation in parents - then the risk is around 10 percent
  • Edwards syndrome in the family

The greater the risk of developing Edwards syndrome, the more careful medical monitoring during pregnancy should be. It is worth looking for a specialist who is known to be thorough and vigilant.

If a child with Edwards syndrome was born in the family of the future mother or father, it is worth doing a genetic test for the carrier of chromosome 18 translocation before pregnancy.

Edwards syndrome: causes

The cause of Edwards syndrome ischromosome aberration , which is a change in the number of chromosomes. In this case, the genetic abnormality consists in the appearance of an additional, third, chromosome 18 in the DNA.

The most common causes of trisomy in the 18th chromosome are disturbances in the gametogenesis process. During the formation of reproductive cells, there is a wrong segregation of chromosomes to both gametes. Correctly, each of them should have one chromosome from a given pair.

In the case of Edwards syndrome, one of the gametes has additional material in the form of the second chromosome of the 18th pair. Consequently, after fertilization, one can obtain a cell with 3 chromosomes of the 18th pair.

Edwards syndrome: diagnostics. Symptoms in the prenatal period

In the prenatal period, Edwards syndrome is suspected:

  • low fetal weight,
  • abnormal skeletal development - nape and neck as well as nasal ankle and chest,
  • central nervous system defects.

These factors can be noticed and assessed in the 3D ultrasound examination. When they appear, the doctor may order biochemical tests for the mother-to-be. The blood sample measures the level of hCG -human chorionic gonadotropin, pregnancy hormone. Significantly lower than normal may indicate Edwards syndrome. The concentration level of PAPP-A ( pregnancy associated plasma protein A ) is also tested. In this case, a lower level may also suggest illness.

However, biochemical studies do not provide a definitive answer. The cytogenetic analysis is fully authoritative. To do it, you need to perform one of the invasive prenatal tests:

  • amniocentesis - collection of amniotic fluid,
  • or chorionic villus sampling to obtain fetal cells.

Knowing about your baby's condition before it is born allows you to prepare well for the delivery, incl. choose a place where the child will receive comprehensive help right away, or decide to terminate the pregnancy.

Category:

Genetic diseases