Edwards syndrome What we need to know

 

 

Edwards syndrome is a hereditary disease caused by trisomy of the 18th chromosome and is manifested by multiple organ malformations.

Children with Edwards syndrome have 18 copies of part or all of chromosome 3, instead of the normal 2 copies. Also called trisomy 18, it is much more common in girls than boys.

Having 18 copies of chromosome 3 usually happens by chance at conception (when an egg is fertilized by a sperm). As a woman's age increases, the risk of having a child with Edwards syndrome also increases.

Types of Edwards syndrome (trisomy 18).

There are three types of Edwards syndrome, depending on the characteristics of the trisomy on chromosome 18. The severity of a child's symptoms can vary depending on the type of trisomy. Several types of Edwards syndrome are known: complete, mosaic and partial trisomy.

  • Complete trisomy is the most common form of Edwards syndrome. In complete trisomy, every cell in the body has three complete copies of 18 complete chromosomes. In cases of complete trisomy, symptoms are usually more severe than in other types of Edwards syndrome.
  • Mosaic trisomy – This type of trisomy occurs when the extra chromosome 18 is not present in all cells in the baby's body, some have 2 copies and some have 3. People with mosaic trisomy may have mild or severe symptoms, or no physical changes at all; In addition, the risk of premature death is very high.
  • Partial trisomy 18 is a rare type of Edwards syndrome caused by an incomplete duplication of a chromosome. In general, these cases are due to translocation, that is, the breaking of the 18th chromosome and the joining of the separated part to another chromosome.

 

Symptoms

Children with Edwards syndrome can have a wide range of health problems.

  • low weight of the newborn (up to 2500 g);
  • multiple anomalies of the structure of the face and musculoskeletal system;
  • dolichocephalic skull shape;
  • hypertelorism;
  • Ear sinks small, deformed, usually located below;
  • short chest;
  • reduced intercostal space;
  • muscular hypertonus;
  • flexor deformity of fingers;
  • hypoplasia of nails;
  • hip dysplasia;
  • atrophy of optic nerve discs;
  • Omphalocele: intestines exit the body through the umbilicus;
  • breathing problem
  • Difficulty eating
  • Esophageal atresia: the esophagus is not connected to the stomach;
  • Postnatal growth failure and developmental delay;
  • Micrognathia: small size of the upper jaw;
  • pimples (cleft lip);
  • wide eyes, small, drooping eyelids (ptosis);
  • Cryptorchidism: In men, the testicles do not descend properly;
  • weak cry
  • Severe intellectual disabilities.

Diagnosis

There are two main types of tests available to prevent fetal syndromes during pregnancy (prenatal period): screening tests and diagnostic tests. Screening and diagnostic tests determine whether a fetus has a low or high chance of developing various syndromes.

If screening tests show that you have a high risk of having a baby with Edwards syndrome, it is recommended that you also have a diagnostic test to determine whether the fetus has the genetic disorder.

1. Screening Tests – A prenatal screening test can determine if your baby is more or less likely to have birth defects, many of which are genetic disorders. These tests include blood tests, specific ultrasounds, and prenatal cell-free DNA screening.

2. Diagnostic tests – after the screening test, the final answer is given by the diagnostic test, which checks the genetic material of the fetus and therefore can also find out whether the fetus has a genetic disorder. Invasive and non-invasive prenatal diagnostic tests ((NIPT) Verasity, Veragen) are the only, safe and effective way to confirm the diagnostics.

Be aware that some diagnostic tests, such as chorionic villus sampling and amniocentesis, carry a small risk of miscarriage.

 Learn more about prenatal diagnostics → (https://synevo.ge/prenatal-screening/)

solution

There is no specific treatment for Edwards syndrome. Because of the serious health problems of a newborn with the syndrome, doctors usually focus on minimizing discomfort and feeding the baby.

Parents with Edwards syndrome are faced with a very difficult choice. They choose either to keep the baby alive in the neonatal intensive care unit or, in extreme cases, to give the baby palliative care.

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