General Practice 2022

SíPatau syndrome: what é, characteristics and how é the diagnosisóstatic

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SíPatau syndrome: what é, characteristics and how é the diagnosisóstatic
SíPatau syndrome: what é, characteristics and how é the diagnosisóstatic

Patau syndrome is a rare genetic disease characterized by the tripling of chromosome 13, which directly interferes with fetal development, resulting in malformations in the nervous system, heart defects and cleft lip and roof of the baby's mouth.

This change is more common when a woman is over 35 years old, because there is a greater probability of chromosomal changes from that age onwards. To investigate Patau's syndrome, ultrasound, amniocentesis, or fetal DNA testing in maternal blood may be performed to evaluate the fetus' chromosomes and thus verify the presence of alterations.

Normally, babies with this disease survive less than 3 days on average, but there are cases of survival up to 10 years of age, depending on the severity of the syndrome, being important in all cases that the baby is accompanied by the pediatrician so that feeding can happen more easily.

Key features

The most common characteristics of children with Patau Syndrome are:

  • Severe malformations of the central nervous system;
  • Severe mental retardation;
  • Congenital heart defects;
  • In the case of boys, the testes may not descend from the abdominal cavity to the scrotum;
  • In the case of girls, changes may occur in the uterus and ovaries;
  • Polycystic kidneys;
  • Cleft lip and roof of mouth;
  • Hand malformation;
  • Defects in eye formation or absence of eyes.

In addition, some babies may also have low birth weight and have a sixth finger on their hands or feet, in addition to having alterations in the circulatory and urogenital system.

How is the diagnosis

The diagnosis of Patau syndrome can be made during pregnancy through prenatal exams, especially in the case of women over 35 years old, since there is a greater risk of chromosomal alterations from that age onwards.

Thus, in case alterations are noticed during the ultrasound, a laboratory test may be indicated in order to identify the presence of circulating fetal DNA in the maternal blood and, thus, be possible to evaluate the chromosomes and identify possible changes. In addition, amniocentesis may also be performed to confirm the diagnosis.

After birth, the diagnosis of Patau syndrome can be made by evaluating the characteristics presented by the baby, the result of imaging tests and cytogenetics, which is a laboratory genetic test in which the chromosomes are observed, being possible to notice the trisomy of chromosome 13 characteristic of this syndrome.

How the treatment is done

There is no specific treatment for Patau syndrome, however the treatment indicated by the pediatrician is aimed at relieving discomfort and facilitating the baby's feeding, as well as relieving other symptoms that may arise.

In addition, surgery may also be necessary to repair heart defects or cracks in the lips and roof of the mouth and undergo physiotherapy, occupational therapy and speech therapy sessions, which can help in the development of children.

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