Patau syndrome: photos, symptoms, what it is, how long they live

Patau syndrome or trisomy 13 chromosome syndrome is a severe genetic abnormality associated with the presence of extra chromosome set copies (trisomy) of chromosome 13.

This disease leads to malfunction of the central nervous system, vision, muscle tissue and requires serious treatment.

According to WHO statistics, 1 newborn with Patau syndrome is born annually in the world for 7000-10,000 children.

Causes

The main reason for the development of Patau syndrome is an extra third copy of the 13th chromosome in the child's genetic code.

Geneticists have not yet established the exact origin of chromosome trisomy, but at the moment it has already been established that the violation occurs during the formation of gametes, that is, reproductive cells.

In medicine, the occurrence of this syndrome is referred to as random events.

Provoking factors for the onset of the disease

At the moment, it has not been determined that Patau syndrome is a hereditary disease. It is also not known whether the mother's lifestyle and age influences the onset of the disease.

In many cases, the parents of the child have a simple trisomy in the set of chromosomes.

It is also not known about the effect on the formation of trisomy of the 13th chromosome in the fetus:

• bad ecology;
• bad habits of the mother;
• infections and diseases of parents during conception.

Symptoms of trisomy 13 chromosome

Children with Patau syndrome have a number of external abnormalities and various body systems (see. photo of newborns). Organ abnormalities are highly interconnected.

Doctors divide the characteristic signs of the disease into external and internal pathologies.

External signs of Patau syndrome include:

• Underweight

The weight of a newborn baby does not exceed 2-3 kg.

• Visual impairment and physiologically poorly developed eyes

Children have visual impairment or complete blindness.

• Asphyxia due to labor
• Polyhydramnios and premature birth

Polyhydramnios is a serious problem that in most cases indicates abnormalities in the fetus. Such a diagnosis is made on the basis of the performed ultrasound examination.

• Microcephaly

This diagnosis means a violation of the structure of the bones of the skull (see. photo below).

In such patients, the head is much smaller than in relatively healthy children. This pathology is not corrected, since the child's skull is formed in the early stages of pregnancy.

• Distorted nose and ears
• Eyes are very distant from each other
• Flat nose bridge
• Cleft palate and cleft lip

Cleft palate (cleft lip), occurs due to the distorted shape of the skull. This pathology can make the process of feeding a baby more laborious.

• The child's fingers are clenched into a fist, extra fingers are possible

This problem arises due to the distortion of the structure of the spine; in sick children, it is often shortened. Hands are always tense and clenched into a fist. Rarely enough, but there have been recorded cases of the birth of children with an anomaly in the number of fingers.

External signs of trisomy 13 chromosome are not as terrible and destructive as disruption of the internal systems of the body.

The real danger is represented by disruptions in the work of internal organs, which can significantly complicate, though not long, but still the life of a sick child.

Pathologies of internal organs include:

• Heart disease

Frequent pathology that accompanies children with Patau syndrome. There is no connection between the small and large circulation.

• Heart septal defects
• Arterial duct
• Disruption of the pancreas
• Polycystic
• Cystic lesions on the pancreas (cysts)
• Umbilical hernia
• Lack of fertility
• Genital anomalies

Girls with trisomy 13 can be born with vaginal doubling or clitoral hypertrophy.

• Leukemia (leukemia)

Leukemia is a disease of the circulatory system. Doctors attribute it to severe cancer. It is characterized by uncontrolled proliferation of leukocytes.

• Severe intellectual disability

All children with this ailment are born mentally retarded. This is due to microcephaly, that is, deformation of the bones of the skull.

All of the above deviations may or may not be present. This is just a list of the most common recorded symptoms of Patau syndrome.

Diagnostics

Diagnosis of genetic pathologies is carried out at the risk of a threat to the fetus. Such studies are assigned to the expectant mother in advance, that is, during pregnancy. Diagnosing genetic abnormalities is necessary to warn about the consequences and threats of having a child with a gene abnormality.

Methods and tools for diagnosing genetic diseases are divided into invasive and non-invasive.

Invasive diagnostic method is carried out from 8 to 12 week of pregnancy. The effectiveness of this method lies in the analysis of the layer of the fetal membrane. The procedure is carried out using a needle-tipped apparatus that penetrates the abdominal area.

A small amount of fetal tissue is taken for analysis, therefore, this diagnostic method does not have a negative effect on the development of the child. Invasive methods include the following procedures:

Amniocentesis

This procedure consists of piercing the abdominal area and taking the amniotic fluid for analysis. Amniocentesis is prescribed at 14-18 weeks of gestation. Diagnostics takes place under the supervision of an ultrasound specialist.

Cordocentesis

A method of invasive prenatal diagnosis, in which the blood of the fetus from the umbilical cord is analyzed for further examination. This procedure is difficult to carry out, because it poses a threat to both the child and the mother.

Chorion biopsy

Trisomy 13 of chromosomes in a child is also detected using the analysis of chorionic villi (placental tissue). This procedure is carried out on 10-12 weeks pregnancy. Like many invasive diagnostic methods, chorionic villus sampling involves the penetration of a special needle into the abdominal cavity and carries some danger.

Most often, this procedure threatens the health of the baby if it is carried out incorrectly; otherwise, the statistics of negative outcomes is extremely small.

Non-invasive a method for diagnosing genetic diseases is a study of the mother's analysis material, namely blood, in a laboratory. Blood, as a rule, contains fragments of the genetic makeup of the unborn child.

It is worth noting that the non-invasive diagnostic method is absolutely safe for the expectant mother and child, since it does not require the genetic material of the fetus for research.

The following non-invasive methods are used:

Ultrasound

Such a study helps to identify violations and abnormalities in a child while still in the womb. Usually, Patau syndrome can be detected in this way as early as 12 weeks.

Screening

This method differs from ultrasound in that it is complex and has clear goals. During the entire pregnancy, screening is carried out three times at the following times:

1. 11-14 weeks
2. 18-21 weeks
3. 30-34 week

Genetic research

To completely exclude trisomy 13 chromosome in newborns and after the birth of a child, his did not overcome all the signs and symptoms of this terrible ailment, you can resort to genetic testing.

This study is carried out at the stage of planning the desired pregnancy or in the first trimester.

Genetic test shows 100% the result of the presence or tendency to one or another chromosomal disease.

Treatment of Patau syndrome

Trisomy 13 of chromosome is incurable.

Patau syndrome is characterized by multiple deviations in the development and structure of internal organs.

This disease can only be corrected by the following operations:

• plastic surgery to correct the appearance of the face;
• surgery to correct the structure of internal organs;
• removal of the extra uterus in girls.

Complex therapy can only increase the life of a child, but unfortunately, it will be impossible to ensure a full life for him.

Prophylaxis

Patau syndrome is a disease that occurs unpredictably. At this point in time, doctors have not developed specific recommendations, following which, it would be possible to avoid this disease in newborns.

It can only be asserted for certain that with hereditary or genetic diseases in the family, as well as the mature age of the parents, it is necessary to consult with a specialist, undergo all the necessary examinations and pass tests for laboratory genetic research.

Forecast

Unfortunately, children with Patau syndrome are unable to live long and fulfilling lives. Babies with this ailment die immediately after birth or during the first year of life. Symptoms of a terrible disease exclude the possibility of cure, and genetic diseases strongly affect the functioning of internal organs.

However, in countries with a high level of medicine, there are children with trisomy 13 of chromosomes who have lived to be 10 years old. However, severe mental retardation, operations and complicated treatment will not give an effective result, but will only prolong the life span.

A child with this condition will never be completely independent and independent. Due to severe mental retardation, children with Patau syndrome find it difficult to adapt in society and build relationships.

Active treatment, love and care, of course, will positively affect a baby with such an ailment, but you need to understand that such a child will never be able to receive all the joys of life.