Patau Syndrome (trisomy 13)
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Patau syndrome is a serious chromosome abnormality. Many babies with this abnormality die during pregnancy or not long after their birth.
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We also call the Patau syndrome trisomy 13. Babies with this syndrome do not have two chromosomes with the number 13, but three. It affects about one in every 5,000 live births. Many children with this abnormality die during pregnancy.
Trisomy causes 13
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The cause of Patau's syndrome is an error in cell division shortly after fertilization. Each cell of the body contains 23 pairs of chromosomes, numbered 1 to 22. The 23rd pair determines whether the child is a boy or a girl. If there are three instead of two chromosomes number 13 in the cells, we speak of a trisomy 13. Such a chromosome too much causes all kinds of abnormalities. Due to the method of cell division, it is possible that not all body cells contain three chromosomes 13. This is called a mosaic. Other chromosome abnormalities, in which three chromosomes are found, are Edward's syndrome (trisomy 18) and Down syndrome (trisomy 21). It is not entirely clear why the abnormality in the number of chromosomes occurs during cell division. The age of the mother does play a role.
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Trisomy symptoms 13
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Babies with trisomy 13 have a growth retardation even before birth. They are therefore too light at birth. In addition, children with Patau syndrome have various birth defects: There is always a predisposition disorder in the brain, whereby the head and brain often lag behind in growth (microcephaly). This manifests itself in a serious delay in development. It often happens that the brain has not properly split into two hemispheres (holoprosencephaly). Children with trisomy 13 usually die because breathing becomes more and more faltering. Epilepsy is common. Sometimes there is an open spine (spina bifida). Construction disorders in the center of the face (this is an expression of the impaired construction of the brain). Nutritional and respiratory problems. Often there are extra little fingers or little toes. Various congenital heart defects. There may be cysts or other predisposition disorders in the kidneys. Undescended testicles (or cryptorchidism).
Diagnosis
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A villus test, amniocentesis or the NIPT test can reveal that your baby has trisomy 13. If after birth it is suspected that your baby has a trisomy 13 chromosome pattern, a blood test will be done.
Trisomy Treatment 13 Most of the children with a trisomy probably die in the womb. Some of the children are born, but then die as if in the next days to weeks. In general, the physical abnormalities are too serious to be viable. No treatment is possible. Life expectancy is not good and therefore no major medical interventions are performed. It is mainly about giving the children a comfortable life. Ensuring good posture, attention to care and support with, for example, tube feeding can help. Only 5-10 percent of children reach their first birthday with a serious disability. This article has been approved by Dr. J.M. de Bont, pediatrician-pediatric neurologist at UMC Utrecht. Last revised October 9, 2018 Don't miss anything?
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