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Aurora magazine

Patau syndrome: causes and symptoms

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.