Patau Syndrome - Causes and Signs of Patau Syndrome

Experts distinguish the following forms of this disease:

• Cytogenetic form – develops as a result of the presence of a copy of an extra 13th chromosome in the case of non-disjunction of chromosomes or Robertsonian translocation.
• Simple form – disorders occur in the early stages of fetal development. Each cell in this form carries an extra chromosome.

• Mosaic form – disorders occur in the later stages of fetal development, which leads to the development of individual areas with healthy cells and areas in which pathological cells are present. Slow development of pathological changes in the body is characteristic. Sometimes pathologies in this form of the disease can be very weakly expressed.

Causes

The causes of this disease have not yet been fully studied to date. It is believed that the main causes that lead to the development of this syndrome are mutations at various levels of the child's development (the level of the egg, embryo, fetus), as well as heredity.

Causes that contribute to the development of Patau syndrome:

• during the division of the germ cell, non-disjunction of chromosomes is possible;
• Robertsonian translocation, in which the embryo receives an additional copy of the genes;
• various anomalies that are formed at the level of the content of genetic information in the cell;
• various mutational changes;
• mutations of the fertilized egg;
• mutations of fetal cells.

There are the following risk factors that contribute to the development of this disease:

• poor environmental situation in the area residence;
• children born from marriages between close relatives;
• the presence of hereditary diseases in all previous generations of parents;
• advanced age of the mother (this disease is diagnosed in children who were born to women after 45 years).

This syndrome is characterized by spontaneity and cannot be prevented.

Most children who were born with this syndrome die during the first week of life.

Symptoms

Symptoms of this syndrome during pregnancy:

• the pregnancy period is reduced (is 38.5 weeks);
• polyhydramnios;
• miscarriage;
• stillbirth.

The following symptoms are characteristic of this syndrome in newborns:

• underdevelopment (true prenatal hypoplasia);
• various severe congenital defects;
• low birth weight;
• abnormal skull structure;
• moderate microcephaly;
• flexor position of the hands;
• various abnormalities in the structure of the hands (for example, polydactyly);
• various abnormalities in the development of the central nervous system;
• low and sloping forehead;
• distance between the eye slits decreased;
• narrowed palpebral fissures;
• coloboma;
• corneal opacity;
• microphthalmia;
• broad base of nose;
• deformed auricles;
• sunken bridge of nose;
• cleft palate and lip;
• short neck;
• hypopituitarism;
• pancreatic changes (fibrocystic);
• heterotopia of pancreas;
• possible presence of accessory spleen;
• enlarged kidneys;
• umbilical embryonic hernia;
• cysts in the renal cortex;
• abnormalities in the development of the genitals.

Very often, with this syndrome, newborns have various heart defects: transposition of blood vessels, defects in the development of the interatrial and interventricular septum, etc.

Although newborns with this syndrome, in most cases, die within a year, in developed countries life expectancy can reach five, and sometimes ten years. But such children suffer from profound idiocy.

People with such disorders are prone to the development of various types of acute myeloid leukemia.

Diagnostics

This syndrome can be diagnosed in a fetus based on an ultrasound examination at certain periods of pregnancy (from the 20th week of pregnancy). Suspicion for this diagnosis is based on various developmental disorders of the fetus (abnormal skull, low body weight, cleft lip, lack of hair, etc.). After the birth of the child, the diagnosis is confirmed by a pediatrician or neonatologist based on a visual examination of the child and the clinical picture.

Patau syndrome is diagnosed by the following studies:

• ultrasound;
• genetic testing of hereditary material for the presence of an extra 13th chromosome;
• chorionic villus biopsy (CVB);
• amniocentesis;
• cordocentesis.

All of the above studies will allow you to make the correct diagnosis and distinguish this syndrome from other possible diseases that have a similar clinical picture.

Treatment

To date, it is not possible to correct chromosomal abnormalities. Treatment consists only of maintenance (general strengthening therapy) and monitoring of the patient's health. It is possible for a surgeon to perform surgical intervention to correct various congenital malformations. The prognosis for this disease is very unfavorable.

Prevention

At the moment, there is no prevention to prevent the development of this syndrome.