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Patau syndrome: symptoms, causes and treatment

by Alivia Nyhan
Published: Last Updated on

Patau syndrome is a severe pathology that can affect the children of genetically predisposed people. Fortunately, it is a rare entity since it is expressed in only 1 in 12,000 live newborns, indicating that its prevalence is low. Despite its relatively low incidence, its implications on affected families are very high. In addition, since it is a so-called rare disease, it is challenging to find the resources that could find a treatment or some way to avoid it.

In the following FastlyHealarticle, we will explain everything about Patau syndrome: symptoms, causes, and treatment.

What is trisomy 13

The Patau syndrome was described in 1657 for the first time by the anatomist Thomas Bartholin doctor. However, it was not until 1960 that the cause of this alteration was known.

Patau syndrome is also known under the name trisomy 13, and it is a disease of genetic origin characterized by abnormalities in the division of reproductive cells. Either an ovum or sperm, when they divide defectively, they produce an incorrect migration of their chromosomes, originating an extra copy of chromosome 13, which is then expressed in some of the cells.

This chromosomal alteration that we mention is present in children affected by Patau Syndrome, producing significant malformations that manifest themselves at the level of different vital organs and body systems.

Children who suffer from this syndrome become the protagonists of a terrible life experience due to these morphological-functional alterations with multiple implications that lead to the child’s inevitable death not long after birth since life expectancy is shorter than one year. In addition, it should not be overlooked that up to 80% of fetuses affected by this syndrome do not reach the end of pregnancy alive.

Causes of Patau syndrome

The cause of Patau syndrome is the product of the previously described chromosomal malformation. We can find an extra copy of chromosome number 13, which is responsible for all the alterations suffered by children who suffer from it.

The main risk factor is that the same couple has previously conceived another child with this syndrome, increasing the probability of it happening again. Therefore, it would be advisable for the couple to undergo the relevant genetic studies to know well the chances of being able to conceive a healthy child.

This disorder is not of hereditary origin. That is, it is not transmitted from parents to children.

Patau syndrome symptoms

Patau Syndrome produces anatomical-functional malformations in practically the entire organism of the child. These alterations translate into a poor prognosis since they frequently trigger complications that end in a short time of the patient’s life.

These malformations, among others, are:

  • Cardiac: dextrocardia, that is, the heart is located on the right side of the thorax; the presence of heart valve disease or heart valve disease and abnormal communication between the heart’s chambers.
  • Abdomen and pelvis: the presence of umbilical or inguinal hernias, omphalocele -this is what we call when the child has all the abdominal organs outside his body-malformation of the bladder and urinary system, absence of one or both kidneys at the time of birth. Birth, undescended testicles.
  • Head and neck: eyes are smaller than average, possible ocular fusion, one eye in the center of the forehead, too small chin, cleft lip, no nose or malformation.
  • Limbs: polydactyly or extra fingers in both hands and feet, the fusion of the fingers, flaccidity that prevents them from moving usually.
  • Nervous system: microcephaly and brain smaller than usual leads to severe mental retardation that will limit the child’s chances and epilepsy.

Diagnosis of trisomy 13

The diagnosis of Patau syndrome can be made easily from the moment of gestation through the regular performance of obstetric ultrasound. Once the medical professional suspects a chromosomal abnormality, they can deepen their study by asking for what we call a Karyotype which is a mapping of genes obtained by a chorionic biopsy or sample of cells from the placenta. An amniocentesis, the amniotic fluid sample obtained by puncturing the amniotic sac, also helps the diagnosis.

These are procedures that involve a certain complexity and risk for pregnancy but that the medical specialist will know well when to indicate depending on the clinical suspicions generated by the interpretation of the routine ultrasound.

In case of not having been diagnosed during pregnancy and the child arrives alive at the time of birth, simply a routine physical-functional examination of the newborn baby by the pediatrician will be more than enough to notice the characteristic alterations of this disease; therefore, This will motivate the specialist to proceed with the studies that will allow confirming the diagnostic suspicions, such as the prompt performance of a skull ultrasound, an abdominal ultrasound, as well as an echo-cardiography and pantomography of the whole body.

Patau syndrome treatment

Unfortunately, there is no effective treatment for Patau syndrome, so all the interventions carried out once the child is born are merely palliative. They only seek to relieve pain when the child manages to stay alive. Unfortunately, that does not usually exceed a few months of life.

Faced with typical complications in these patients, such as cardiac or respiratory failure, they frequently require hospitalization in the ICU (intensive care unit) with the need for mechanical respiratory assistance since they cannot breathe on their own.

Another frequent complication is recurrent seizures that are refractory to typical treatment since, as described above, these children are born with epileptogenic foci.

Also, due to the amount of abdominal and digestive system malformations these children present, it is difficult to specify a regular diet such as breastfeeding. Due to cleft lip and palate malformations, they cannot latch on to the mother’s breast and suck. Therefore, what is resorted to establishing a nasogastric tube to supply food to the child?

This article is merely informative. At FastlyHeal .com, we do not have the power to prescribe medical treatments or make any diagnosis. We invite you to see a doctor if you present any condition or discomfort.

If you want to read more articles similar to Patau Syndrome: symptoms, causes, and treatment, we recommend that you enter our Genetic Disorders category.

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