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Patau Syndrome

Patau syndrome is also called trisomy 13. The cause is an extra copy of chromosome 13.

This avoidance occurs accidentally during pregnancy. An error occurs when cells divide and an excessive copy of all or part of chromosome 13 occurs.

Patients with Patau syndrome have an excess of one chromosome 13 in somatic cells, so the cell contains three chromosomes 13 instead of two, as is normal.

The total number of chromosomes in each such cell is 47, and in normal human somatic cells, the number of chromosomes is 46.

In about 5% of cases, only a few cells have an extra copy of chromosome 13 – mosaic trisomy 13.

Patau Syndrome – Risk Factors

The incidence of Patau syndrome is about 1 case per 8,000-12,000 at birth. It is believed that the risk of developing this syndrome increases with the age of the mother.

Patau Syndrome – Symptoms in Pregnancy:

  • Patau Syndrome, a rare and serious genetic disorder of the baby, does not affect mothers during pregnancy. However, an ultrasound examination can determine if there is slow growth or some of the fetal abnormalities.
  • Regular ultrasound examinations can show certain conditions. If in doubt, the expectant mother is referred for additional tests.

Patau Syndrome – Treatment

There is no cure or treatment for Patau syndrome. This syndrome causes serious health problems in the child. Treatment is only supportive and symptomatic. Very few babies with Patau syndrome survive the first few days. More than 90% of babies born with Patau syndrome do not survive until the first year. About 5-10% of babies with the less severe vision of this syndrome (e.g., partial trisomy or mosaic 13) live for more than one year. Adult reports of Patau syndrome are rare. Patau Syndrome – symptoms The baby develops slowly intrauterine, has low body weight during birth, heart defects, and problems with organ development, as well as a specific shape of the head and face. The brain is usually not divided into two halves and this condition is known as holoprosencefaly, which affects the creation of facial defects – cleft lip, jaw and palate, very small or poorly developed eyes (microfaltia), developmental problems of the nasal passages. Other abnormalities mean that babies with this syndrome have a smaller-than-normal head (microcephaly), ear deformities and deafness, abdominal wall defects, and poor muscle tone (hypotension). Hand and foot abnormalities can also occur – more toes and toes (polydactyly) and a curved foot.

What are all the tests for Patau syndrome in pregnancy?

Examination in the first trimester includes ultrasound examination and biochemical tests (Double test).

The dual test determines the risk for Patau syndrome, Down syndrome (trisomy 21) and Edvard syndrome (trisomy 18). The most reliable diagnostic methods are amniocentesis and choriocentesis. Amniocentesis (analysis of amniotic fluid, ie amniotic fluid) and choriocentesis (chorionic villus sampling) are tests that provide defined information. However, these tests are invasive, and performing them increases the risk of miscarriage. For this reason, they are not proposed to all women. Screening tests are tests that do not provide definitive information but determine the risk for Patau syndrome and, most importantly, these tests are not dangerous for either the fetus or the mother. There are several screening tests, of which the genetic test is certainly the most accurate. If the screening test reveals a high risk after the screening test, the pregnant woman is referred to one of the invasive diagnostic tests.

Patau Syndrome

Legacy?

In most cases, Patau syndrome is not inherited. This avoidance occurs accidentally, during pregnancy.

During meiosis (cell division), chromosomes do not divide, so reproductive cells are formed with an abnormal number of chromosomes (instead of one, they contain two chromosomes 13).

When such a gamete is combined with a normal one during fertilization, an embryo with an excess of chromosome 13 is formed in all cells of the body.

Trisomy caused by a balanced displacement in one of the parents is inherited.

Such a parent contains a chromosome 13 translocated to another chromosome and since there is no excess genetic material, the phenotype is normal, showing no signs of disease. Such persons have an increased risk of having children with trisomy 13.


INFO:
Learn more about the VERACITY prenatal test at AvicenaKS Laboratory.

VERACITY is a new generation test that accurately detects Down, Edvard and Patau syndromes, the three most common genetic disorders of the fetus, as well as other syndromes caused by aneuploidy of X and Y chromosomes.

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