Patau syndrome in children: Kariotip, symptoms, signs, causes, treatment, photos of newborns. Patau Syndrome Diagnostics: Biochemical Screening, Ultrasound

Description, causes and symptoms of Patau syndrome. Ways to treat the disease.

Patau syndrome is a serious violation in the work of organs and systems. In most cases, it is possible to detect the presence of the syndrome in the womb. For this, an ultrasound is carried out, starting from 12 weeks. This syndrome is inferior in terms of only the diseases of the Down.

Patau syndrome in children: Kariotip, symptoms, signs

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

Symptoms and signs of Patau syndrome:

• The small weight of the newborn. Usually the baby's weight is not more than 2 kg.
• Small head. Anomalies are observed in the structure and size of the skull. The head is very small.
• Crevices on the lips and the sky. This defect is noticeable with the naked eye.
• The wrong structure of the feet. The child’s legs can be twisted, and a clubfoot is often observed. Often there are additional fingers.
• Narrow eyes. The eye slots are very small, this affects the vision of the child.
• Delay of mental development. This is due to the underdevelopment or absence of some parts of the brain.
• Underdevelopment of the heart. In such children, heart defects are often diagnosed.
• Anomalies in the structure of the ureters. Most often, the ureters are bifurcated.
• Genomicals of the genitals. Girls often have a bifurcation of the uterus and vagina.

Patau syndrome in children: photos of newborns

Such children are very different from normal. The naked eye is visible crevices, the strange size and structure of the skull. Ear shells are located very low.

Patau syndrome in children: causes of the disease

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

Causes of Patau syndrome:

• The age of parents after 40 years. In mature parents, children with genetic disorders are more often born.
• Connections between relatives. Often, cousins \u200b\u200band sisters give birth to sick children.
• Ecology and life in a contaminated environment.
• Genetic predisposition. Parents with Robertson syndrome are often born sick children. At the same time, the parents are quite normal. An anomaly can be found only after DNA analysis.

Patau Syndrome - Trisomy of 13 chromosome: type of inheritance

The most interesting thing is that this ailment is called a trisomy, which is found in 13 chromosome. It is not fully studied why an additional 13 chromosome appears. In this case, an additional chromosome can be transmitted from both the father and from the mother.

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

Patau syndrome in children: occurrence frequency

Patau syndrome is found quite often and is inferior in frequency only to Down syndrome. About one child for 5-7 thousand is born with this diagnosis. Moreover, both boys and girls are equally exposed to chromosomal disorders.

Patau Syndrome Diagnostics: Biochemical Screening

Throughout pregnancy, a woman passes three screening. This is the delivery of venous blood for the purpose of biochemical analysis. The first screech is held at 11-14 weeks, then at 16-18, the last one at 32-34 weeks.

Screening indicators:

• Initially, the concentration of certain hormones is determined in the blood. This is AFP and hCG and free estriol.
• By indicators, you can determine the syndrome of Patau, Down, or Edwards.
• The most interesting thing is that screening alone does not give a 100% guarantee of the presence of syndromes. Additionally, an ultrasound is carried out.
• In the later stages of pregnancy, an amniotic fluid is taken.
• If fears are confirmed, then an abortion is recommended for the pregnant woman.

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

A doctor on an ultrasound may suggest 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:

• The collar space
• Head size
• The length of the bones
• The circumference of the abdomen
• Symmetry of the cerebral hemispheres
• The presence of the main organs

If the child has chromosomal disorders, this can be seen even in 12 weeks. The head with Patau syndrome is small, the hemisphere of the brain is asymmetric. In addition, the size of the nasal bone may change. Excess fingers are often found.

If the doctor saw something strange on an ultrasound, then additional studies are prescribed to the pregnant woman. Genetics consultation is recommended.

Patau syndrome in children: treatment

You can’t cure Patau syndrome. The disease is incurable, since disturbances in the development and structure of internal organs are observed.

Common operations for Patau syndrome:

• Face plastic. Since in this ailment there are often crevices on the lips, their plastic is carried out.
• Operations on internal organs. Usually the kidneys, ureters and heart are operated. Doctors are trying to facilitate the care of the child.
• In girls, an additional uterus is removed. Removal of cysts is also carried out.
• In general, all treatment is aimed at eliminating the symptoms of the disease and strengthening immunity. It is necessary to alleviate the condition of the child in order to avoid inflammation of the already unhealthy organs. Regarding mental development, such children are underdeveloped and will not be able to live a full -fledged life.

Patau syndrome is a serious genetic violation that makes the child not independent. That is why doctors recommend termination of pregnancy at a period of up to 22 weeks.

Video: Patau Syndrome