It is one of the most serious pathologies that exist, since it affects the chromosomes. In this case, a triple copy of chromosome 13 is produced , when two should be possessed. To understand the severity of Patau syndrome, we must remember that chromosomes contain genetic information .
Thus, it is a condition that occurs in gametes (ovules and sperm). This is the reason why your symptoms appear so quickly. In fact, life expectancy does not exceed the first year of life . Already in ultrasounds suspicion may occur, due to malformations and other perceptible phenomena in ultrasound. Through an amniocentesis or a cordocentesis, the diagnosis is confirmed.
Causes and prevalence of Patau syndrome
Basically, Patau syndrome is defined as the existence of 3 copies of chromosome 13. This happens when one of the gametes contains an extra chromosome. Therefore, when joining with the other gamete, the resulting cell (the embryo) has the same one. This unleashes a series of conditions in organs and vital muscles that impede life already in the womb.
Although we know that it is more recurrent in children of parents who range between 31 and 33 years , we still do not know what causes the presence of the extra copy. There may be two cases in which there is no separation within the gamete, or that appears after a translocation of a segment of the chromosome or the entire chromosome.
In any case, it is estimated that one in every 29,000 live births suffers from Patau syndrome . Half of them exceed the month of life, of which only 70% reaches 7 months. On the other hand, this disease is the cause of 1% of spontaneous abortions. In addition, it is something more frequent in the female sex.
Already in pregnancy you can see symptoms of the syndrome. During this period, elements such as microcephaly or holoprosenphaly appear . The latter implies that the brain does not divide into hemispheres, as well as that the lateral ventricles are not formed either. Cardiac and renal malformations can also occur.
On the other hand, a series of symptoms typical of Patau Syndrome follow one another at birth. Among the most visible, they stand out:
However, as the days and weeks pass, the difficulties multiply , to increase the absolute dependence of the patient on their caregivers, medication and other treatments. The following are the most recurrent, although we could provide a much larger list of them:
In view of the above, the diagnosis of Patau syndrome is confirmed through an analysis with the aim of finding anomalies that could point to a translocation.
Treatment of Patau syndrome
The large number of pathologies, coupled with the severity of the syndrome itself, causes premature death . This poses a dilemma for the medical staff. Sometimes, it is known that some people with this syndrome could improve through surgical procedures but, at the same time, there is the certainty that their life will be very short and dependent on another person completely.
Therefore, once the first months are over and after stabilizing the patient, medical discharge is preferred . The objective is that these people have a specialized treatment at home, in a more welcoming and familiar environment. To ensure comfort, parents and caregivers receive extensive training to train them about caring for the
Patau syndrome is included in the group of rare diseases. Until now, its symptoms are known, but not its true cause. Therefore, the scientific community states the need to investigate in this regard. However, advances in genetic studies allow us to be optimistic, since the achievements of the last decade were unthinkable a few years ago.