What is Edwards syndrome, how does it manifest itself

Scientists divide this pathology into three subtypes depending on the type of chromosomal defect:

• complete trisomy - all cells of the body have an extra chromosome, the most severe form of the disease, which affects the majority of patients;
• partial trisomy - is very rare, the cells contain only a fragment of an additional chromosome, pathological symptoms are less pronounced;
• mosaic form - less than half of the cells of the body have a non-standard structure, can be localized both in different organs and parts of the body, and in one - a group (in this case, removal is possible).

Causes

The disease develops due to the presence of an extra 18th chromosome in the human genetic set. This deviation is formed during the intrauterine development of the child.

The factors that can contribute to its occurrence are considered to be:

• unfavorable environment;
• exposure to various chemical elements, radiation, ionizing radiation;
• smoking, alcohol and drugs;
• if the age of the mother carrying the child is over 30 years;
• hereditary predisposition that can be transmitted through several generations;
• taking certain medications during pregnancy;
• children born to spouses who are consanguineous.

According to statistics, it is believed that girls are more susceptible to the disease.

Symptoms

The main signs of the disease:

• low birth weight of the child;
• distortion of the face with a congenital grimace;
• short neck with excess skin fold;
• deformity and narrowness of the chest;
• cleft palate;
• microcephaly, meningomyelocele or hydrocephalus of the central nervous system;
• small head;
• congenital dislocation of the hip;
• cleft lip;
• Meckel's diverticulum;
• underdeveloped eyeballs, which may be too narrow or short;
• in some cases, cleft lip and palate;
• some structures of the brain (cerebellum, corpus callosum) may be absent or underdeveloped;
• atresia of the esophagus;
• partial or complete fusion of the fingers on the upper and lower extremities;
• strabismus;
• diaphragmatic, umbilical and inguinal hernias;
• double kidneys;
• skin hemangiomas and papillomas;
• problems with large vessels;
• altered structure of the feet and wrist joints;
• poor patency of the bile ducts;
• abnormalities in the development of the genitals organs;
• defects of the atrial and ventricular septum of the heart, aortic valves and pulmonary artery;
• enlargement of the urethra;
• problems with physical and psychological development;
• atrophy of the external auditory canal and earlobe, its incorrect physiological location.

More than half of the cases of pathology lead to death during intrauterine formation. In most situations, children born with such a deviation live no more than a year. The cause is one of the complications that was caused by congenital malformations. Only a few who have a mosaic type of pathology survive up to 10 years.

Diagnostics

During pregnancy, it is possible to detect it by a biochemical analysis of the mother's blood and examination by a geneticist. It is difficult to determine which hereditary disease is present based on clinical signs, so a karyotype test (laboratory blood testing to identify the chromosomal composition of cells and biochemical parameters) is mandatory.

In addition, the following diagnostic methods are used to examine all body systems:

• radiography;
• ultrasound diagnostics of the heart and other internal organs;
• computed tomography of the brain;
• echocardiography.

To begin treatment, you should make an appointment with a neurologist, surgeon, cardiologist, urologist, orthopedist, neonatologist, ophthalmologist, otolaryngologist, endocrinologist.

Treatment

Almost always defects acquired during the formation of the body are incompatible with life, so treatment is reduced to alleviating symptoms, prolonging life and normalizing physiological functions as much as possible.

Children suffering from Edwards syndrome quite often suffer from sinusitis, conjunctivitis, otitis media and infectious processes in the genitourinary system. In this regard, the main doctor who ensures the maintenance of their life is a pediatrician. He regularly conducts examinations, gives recommendations on proper care, monitors adequate nutrition.

Surgical correction of deviations is too dangerous and unjustified, therefore it is carried out extremely rarely.

Prevention

There are no preventive measures. The only way to provide for the birth of a child with such a deviation is prenatal testing and consultation with a geneticist during pregnancy.