Patau syndrome or Trisomy 13 is a genetic disorder based on a chromosomal abnormality. Those who suffer have an extra copy of chromosome 13 in some cells or all of them. In some cases, the child has even three copies of the chromosome.

This causes abnormalities in the development of the fetus, which often result in a miscarriage. For children with Patau syndrome the chances of survival are very limited. It is estimated that only 10% of children born with this syndrome exceeds the year of life. Many of them even die in the first week of life. The remaining percentage survives longer, but living with serious health problems such as: heart defects; microcephaly; brain and spinal abnormalities; blindness and deafness; intellectual disabilities.

The manifestation of the disease is completely random, therefore untied from genetic predispositions of the parents. From a statistical point of view, however, the more parents are adults the more likely they are to manifest anomalies. After age 35, there are many more risks that gametes will get damaged and cause malformations or genetic diseases. Non-invasive prenatal screening texts can identify the most at-risk pregnancies.

Thereafter, prenatal diagnosis tests confirm or deny the first result, usually very reliable. If the test is successful, there is no resolution therapy against Patau syndrome. All the treatments that exist today are symptomatic, aimed at minimizing the pain and discomfort of the child.

Source: news-medical.net

Researchers at the University of Montreal have reduced the chromosomal abnormalities of a sample of mouse embryos. This is an unprecedented discovery that could improve current in vitro fertilization techniques. In fact, the anomalies, even when they do not translate into real diseases, reduce the chances of success of IVF. About 50% of the embryos generated by in vitro fertilization contain chromosomal abnormalities.

The most widespread are aneuploidies, or cells with an abnormal number of chromosomes. This anomaly is thought to be the leading cause of infertility, but the mechanisms are not yet known. The study in question managed to explain at least part of it. Part of the aneuploidy could occur during the so-called "assembly of the mitotic spindle". By manipulating this mechanism with drugs, it is possible to reduce the likelihood of anomalies by 50%. To this end, the researchers administered a drug called proTAME to embryos.

Those treated in this way have developed far fewer cells with an abnormal number of embryos. The discovery opens up a new range of possibilities for human beings, despite being in the early stages. Nevertheless, before working on human embryos, further study and analysis of all possible implications must be carried out. We do not know what the long-term consequences could be and if, over time, treatment could give rise to new problems.

Source: medicalxpress.com