Patau syndrome

Patau cider is a genetic disease characterized by an additional 13 chromosomal abnormality in human DNA. It occurs spontaneously, the frequency of the disease is 1:5000 newborns.

Children born with this disease require special care, special medical care and are far behind healthy peers in mental and physical development.

Reasons

The disease can occur for a number of reasons.

A chromosomal anomaly may occur as a result of non-divergence of the chromosome during replication. So the embryo “acquires” another copy of the genetic material.
A violation of chromosomal division can occur at different stages of fetal development. For example, if a fertilized egg already has an abnormal chromosome in its set, and in the process of replication it can go to the embryo immediately (damaging it immediately) or go to the embryo at some time when the embryo already consists of an association of cells. In this case, descendants with normal cells will receive a normal healthy set of chromasomes, and with damaged ones – a distorted chromosomal gene.
Trisomy on chromosome 13 is very often characterized by polyhydramnios, accompanying the expectant mother in the early stages of pregnancy. The gestation period is usually shortened to 38.5 weeks.

Symptoms in children

External symptoms are characterized by a small incision of the eyes (narrowed eye slit). Diseases can often occur that lead to corneal opacity and blindness. Sometimes the eyes may be missing altogether.

The degree of underdevelopment of children with this disease can reach 30% of normal development.

The structure of the palate and upper lip is often broken, as a result of which crevices may occur that make it difficult for the baby to feed.

Children with Patau syndrome have a reduced skull size (microcephaly). The forehead is slightly slanted. The bridge of the nose is “as if pressed” into the skull. The nose is dilated, and the auricles are irregular in shape.

Polydactyly (the presence of extra fingers) is often noted.

Internal organs also suffer, heart malformations appear (defects in the partitions between the ventricles), problems with blood vessels, improper operation of the endocrine system, extra spleens may be observed, etc. Abnormal development of the reproductive system is observed, which is not fully formed.

The work of brain departments that are underdeveloped to the end is disrupted, so children with the syndrome lag behind in mental development from their peers.

Diagnostics

In the postpartum period, a visual examination by a pediatrician reveals Patau syndrome. To certify or refute the disease, ultrasound of internal organs is performed.

Genetic diagnostics is also performed for the presence of chromosome 13.

Treatment

In the modern world, there are still no means and techniques that would allow us to penetrate into the human genetic structure so that healthy cells are not affected.

Therefore, as a preventive measure, it is necessary to study the pedigree and know your genetic predisposition.

And pregnancy planning should be accompanied by certain tests. The future life and health of babies depends entirely on the competent and serious approach of their parents

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