What Is Patau Syndrome: This syndrome with genetic cause usually interferes severely in the development of the baby during pregnancy.
The syndromes and diseases caused by some type of chromosomal mutation occur as a consequence of a change in the organization or in the DNA sequence. As a result, well-known genetic conditions such as Down syndrome can appear.
But in addition, there are a large number of diseases caused by chromosomal alterations of any kind, such as Patau syndrome (trisomy 13). Throughout this article, we will discover what Patau syndrome is, its symptoms, causes and the life prognosis of the children born with it.
What Is Patau Syndrome?
What Is Patau Syndrome, also known as trisomy 13, is a condition caused by a chromosomal mutation in which some or all of the cells in the body contain an additional copy of chromosome 13, hence the name.
This alteration can seriously interfere with the normal development of the fetus, causing multiple and complex organic defects. As a result, in many cases, this causes a miscarriage or the death of the baby; well during pregnancy or soon after birth.
The prognosis of babies who come to be born with Patau syndrome is very reserved. These babies grow slowly in the womb and have an important low birth weight, all this together with a whole set of problems and serious medical difficulties, such as neurological, cardiac or urogenital system disorders.
As is the case with other genetic syndromes in which a lack of chromosome disjunction, such as Down syndrome and Edwards syndrome, in trisomy 13, given the risk of mutation increases with maternal age during pregnancy, especially after 31 years of age.
Globally, Patau syndrome affects about 1 in 5,000 births, making it a not very common genetic syndrome.
Signs and symptoms that characterize it
As mentioned in the previous point, babies with Patau syndrome can develop a wide range of health problems. The reason is that their growth in the uterus slows down considerably, resulting in low birth weight and, in many cases, severe heart defects, among many other symptoms.
In addition, it is very common that the brain does not get to divide into the two corresponding hemispheres. This is known as holoprosencephaly and, when this happens, it can affect the features and facial features, causing the following signs:
Cleft lip and cleft palate
Microphthalmia or abnormally small eyes
Anophthalmia or absence of one or both eyes
Hypotelorism or reduced distance between the eyes
Problems with the development of the nasal passages
In addition, there are other malformations of the face and head that, although less likely, can also occur in Patau syndrome. These include microcephaly or a smaller head size development than normal, malformations in the ear and deafness or the appearance of red spots of birth known as capillary hemangiomas.
As for the signs or possible malformations in the rest of the body, it is very common for children with Patau syndrome to develop problems such as abnormal cysts in the kidneys, an abnormally small penis or a considerably large clitoris, abnormalities in the hands and / or feet as additional fingers (polydactyly) or, finally, a defect in the abdominal wall in which the abdomen does not develop completely, leaving the intestines exposed, covered only by a membrane.
What Is Patau Syndrome causes cause it?
The origin of Patau syndrome is a chromosomal mutation that occurs without causes or known justification. That is, for the moment it has not been possible to determine a direct and exact cause that causes it.
Although this syndrome is always a severe blow to parents, the fact that there is no direct cause can provide some relief to parents; which in many occasions experience feelings of guilt before the appearance of this genetic condition.
In most cases of Patau syndrome, there is no family history of it, so it is not considered a hereditary disease. The genetic alterations occur rather randomly, during conception, when the sperm and the egg combine and the fetus begin to develop.
However, chromosomal mutations can occur in different ways. In 75-90% of cases, the baby has an additional copy of chromosome 13 in the cells of his body, this is known as simple trisomy 13.
On the other hand, in 5-10% of cases, the genetic material is reorganized between chromosome 13 and another chromosome. This alteration is known as chromosomal translocation and it is hypothesized that its cause may be hereditary.
Finally, in the rest 5%, only some of the cells have an additional copy of chromosome 13, which is known as trisomy 13 mosaicism. The signs and symptoms of both mosaicism and partial trisomy tend to be less severe than in simple trisomy 13, which can lengthen the baby’s life expectancy.
How and when can it be detected?
Regardless of whether it is a risky pregnancy or not, between 10 and 14 weeks of pregnancy, a diagnostic test is performed to detect both Patau syndrome and other conditions such as Edwards syndrome (trisomy 18) and Down (trisomy 21).
This diagnosis is made by a combined test that involves a blood test and an ultrasound. If these tests reveal that there is a risk that the baby develops with Patau syndrome, a third diagnostic test is usually offered to determine with certainty whether the baby may have the syndrome or not.
The tests carried out for this purpose is amniocentesis or chorionic villus sampling. Because both are invasive tests, they are usually left as a last option for diagnosis.
However, recently a more novel and less invasive test has been developed in which the baby’s DNA can be analyzed by a sample of the mother’s blood.
Treatment and prognosis
At the moment, there is no specific treatment for Patau syndrome. In each case, the intervention is personalized according to the different problems that the baby can present, with the objective of minimizing the discomfort and guaranteeing that the baby can feed correctly.
For the small number of babies with Patau syndrome who survive beyond the first days of life, the care will depend on the symptoms and specific needs of these.
Unfortunately, the prognosis of life for these children is not very encouraging since more than 80% of children born with Patau syndrome do not usually exceed the first year of life.