Syndrome Patau in children: karyotype, symptoms, signs, causes, treatment, photo of newborns. Syndrome Patau diagnosis: biochemical screening, ultrasound

Description, causes and symptoms of the Patau syndrome. Ways of treatment of ailment.

Patau syndrome is a serious disorder in the work of organs and systems. In most cases it is possible to detect the presence of the syndrome in the womb of the mother. For this purpose, ultrasound is performed starting from the 12th week. This syndrome is second only to Down's disease.

Patau syndrome in children: karyotype, symptoms, signs

Patau syndrome is found in the study of DNA.In this case there is an additional thirteenth chromosome. The Patau syndrome is characterized by a combination of disorders in the work of the nervous system and internal organs.

Symptoms and signs of Patau's syndrome:

• The small weight of the newborn. Usually the weight of the baby is not more than 2 kg.
• Little head. There are abnormalities in the structure and size of the skull. The head is very small.
• Clefts on the lips and the sky. This defect is noticeable to the naked eye.
• Wrong structure of the feet. The legs of the child can be turned out, often there is a clubfoot. Often there are additional fingers.
• Narrow eyes. The eye slits are very small, this affects the child's vision.
• Delay in mental development. This is due to the underdevelopment or lack of certain parts of the brain. Underdevelopment of the heart. These children are often diagnosed with heart defects.
• Anomalies in the structure of the ureters. Most often, the ureters are bifurcate.
• Anomalies of the genital organs. Girls often have a split of the uterus and vagina.

Patau Syndrome in Children: Karyotype, Symptoms, Signs

Patau Syndrome in Children: Photo of the Newborn

These children are very different from the normal ones. Naked eye can see crevices, strange size and structure of the skull. The ears are very low.

Syndrome Patau in children: photos of newborns

Syndrome of Patau in children: photo of newborns

Syndrome of Patau in children: photo of newborns

Syndrome of Patau in children: causes of the disease

Until the end of the cause of the syndrome of Patau are unknown. But there is a category of parents who have a higher risk of having sick children.

Causes of Patau syndrome:

• Age of parents after 40 years. Mature parents are more likely to have children with genetic disorders.
• Relations between relatives. Often cousins ​​have sick children.
• Ecology and life in a polluted environment.
• Genetic predisposition. Parents with Robertson's syndrome often have sick children. At the same time, the parents are quite normal. Anomaly can be detected only after DNA analysis.

Syndrome Patau in children: causes of the disease

Patau syndrome - trisomy on chromosome 13: type of inheritance

The most interesting thing is that this ailment is called trisomy, which occurs in the 13 chromosome. To the end, it is not known why an additional 13 chromosomes appear. Moreover, an additional chromosome can be transmitted from both the father and the mother.

Initially, the disorder can be in the sperm or in the egg. But most often anomaly occurs after the formation of the zygote. This cell is divided incorrectly, an additional chromosome appears at a certain stage.

Patau syndrome - trisomy on chromosome 13: inheritance type

Patau syndrome in children: incidence of

Syndrome Patau occurs quite often and is second only to Down's syndrome in frequency. Approximately one child of 5-7 thousand is born with this diagnosis. Moreover, both boys and girls are equally susceptible to chromosomal abnormalities.

Syndrome Patau in children: incidence

Syndrome Patau diagnosis: biochemical screening

Throughout the pregnancy, the woman undergoes three screenings. This is the delivery of venous blood for the purpose of biochemical analysis. The first screening is conducted at 11-14 weeks, then at 16-18, the latest at 32-34 week.

Screening parameters:

• Initially, the concentration of certain hormones in the blood is determined. These are AFP and hCG and free estriol.
• By indicators, you can identify the syndrome of Patau, Down or Edwards.
• The most interesting thing is that screening alone does not give 100% guarantee of syndromes. Additionally, ultrasound is performed.
• In late pregnancy, the amniotic fluid is collected.
• If the fears are confirmed, the pregnant woman is recommended for abortion.

Syndrome Patau diagnosis: biochemical screening

Is it possible to see Patau syndrome on ultrasound at 12 weeks?

A doctor on ultrasound may suggest the Patau syndrome. Despite the fact that the child is still very small, the doctor can see some violations.

What is determined by ultrasound at 12 weeks:

• Collar space
• Head size
• Bone length
• Abdominal circumference
• Symmetry of the brain's hemispheres
• Presence of the main organs of the

If the child has chromosomal abnormalities, this can be seen even in 12 weeks. The head with Patau's syndrome is small, the hemispheres of the brain are asymmetrical. In addition, the size of the nasal bone can change. Often find excess fingers.

If the doctor saw something strange on the ultrasound, then the pregnant woman is assigned additional studies. Recommend a geneticist consultation.

Is it possible to see Patau syndrome on ultrasound at 12 weeks?

Syndrome Patau in children: treatment of

. It is impossible to cure Patau's syndrome. The disease is incurable, as there are abnormalities in the development and structure of internal organs.

Common operations in the Patau syndrome:

• Facial plastic surgery. Since with this disease often there are crevices on the lips, their plastics are carried out.
• Operations on internal organs. Usually they operate on the kidneys, ureters and heart. Doctors try to facilitate the care of the child.
• The uterus is removed from the girls. Cysts are also removed.
• In general, all treatment is aimed at eliminating the symptoms of the disease and strengthening immunity. To alleviate the condition of the child is necessary to avoid the inflammation of already unhealthy organs. Regarding mental development, such children are underdeveloped and will not be able to live a full life.

The Patau syndrome is a serious genetic disorder that makes the child not self-sufficient. That's why doctors recommend abortion for up to 22 weeks.

VIDEO: The Patau Syndrome