Trisomy 13

Gene deviations greatly affect the viability of the child, so this issue is very much concerned about doctors and future parents. One of such pathologies is the Patau syndrome, caused by trisomy on chromosome 13. About it and we will tell in this article.

What is Trisomy 13?

The Patau syndrome is a more rare disease than Down's syndrome and Edwards syndrome . It occurs approximately 1 time for 6000 - 14000 pregnancies. But, after all, is one of the three most common gene pathologies. The syndrome is formed in several ways:

• as a result of the formation of an additional chromosome in the pair - simple trisomy;
• due to mutation, as a result of improper cell creation or hereditary predisposition - Robertson's translocation.

Also, it is complete (in all cells), mosaic type (in some) and partial (the presence of extra parts of chromosomes).

How to identify trisomy 13?

To detect an abnormal amount of chromosomes in the fetus, a very complex study is needed - amniocentesis , during which a little amniotic fluid is taken for the study. This procedure can provoke spontaneous miscarriage. Therefore, to determine the risk of the presence of trisomy 13 in the fetus, a comprehensive screening test is given. It consists of carrying out ultrasound and blood sampling from the vein, to determine its biochemical composition.

Identification of risks of trisomy 13

After giving blood at 12-13 weeks and ultrasound, the future mother gets a result, where the basic and individual risks will be clearly defined. If the second number of the first trisomy 13 (that is, the norm) is less than the second, then the risk is low (for example: the base one is 1: 5000, and the individual one is 1: 7891). If on the contrary, then a consultation with a geneticist is required.

Symptoms of trisomy 13 in children

This gene pathology causes very serious violations in the development of the child, which can even be seen on ultrasound:

• the wrong structure of the face: the eyes are too close, the sloping forehead, the cleft on the upper jaw (both the lip and the sky), the deformation of the ears and nose;
• the presence of extra fingers and other anomalies on the limbs;
• defects of internal organs: heart, kidney, pancreas, etc.

Most often, such pregnancy is accompanied by polyhydramnios and a small weight of the fetus. Children with this disease die more in the first weeks after childbirth.