Patau’s syndrome
Patau’s syndrome
Patau's syndrome, also called Trisomy 13, is a rare but serious genetic condition. It starts affecting a baby while still in the womb, and it goes on to cause health problems throughout the child's life. In the UK, around 2 in every 10,000 births are affected by Patau's syndrome.
So what exactly is Patau's syndrome? When a baby is conceived, they inherit genetic material from both parents, and this genetic material is called a chromosome. Humans normally have 23 pairs of chromosomes, and in each pair, 1 chromosome comes from the mother and 1 comes from the father. When a baby has Patau's syndrome, it means they have inherited an extra copy of chromosome 13. This extra copy may be present in some or all of the baby's cells, and it is what leads to the health problems seen in the condition.
There are 3 different forms of Patau's syndrome, and it helps to understand how they differ. In the full form, the baby inherits a complete extra copy of chromosome 13, present in every single one of the baby's cells. This is by far the most common pattern, seen in around 80% of babies born with Patau's syndrome. In the mosaic form, the baby also inherits a complete extra copy of chromosome 13, but this time the extra copy is present in only some of the cells, not all of them. In the partial form, the baby inherits just part of an extra copy of chromosome 13 rather than the whole thing. This partial form is very rare.
Common Symptoms
Symptom information is not available for this condition yet.
⚠️ This symptom list is for educational purposes. Having these symptoms does not mean you have this condition. See a doctor for proper diagnosis.
Medicines Commonly Used
⚠️ These medicines are commonly used for confirmed diagnoses of this condition. This is NOT a recommendation or prescription. Treatment must be determined by your doctor.
No medicines have been linked to this condition yet.
Causes
Why does Patau's syndrome happen?
In most cases, it happens because of a random change in the egg or sperm, even though the parents are healthy. Nothing the parents did before or during pregnancy causes this change.
How Patau's syndrome affects pregnancy
You will be offered screening for Patau's syndrome when you are between 11 and 14 weeks pregnant.
The screening test will show whether your baby has a high or low chance of having Patau's syndrome.
If the screening shows a high chance that your baby has Patau's syndrome, you can choose to have a further diagnostic test if you wish.
If your result comes back as a very high chance (between "1 in 2" and "1 in 10" for Patau's syndrome), this may affect your options for further screening. This is because NIPT is less accurate once you have received a very high chance result for Edwards' syndrome or Patau's syndrome. Your healthcare professional will talk you through your next options.
No test can tell you whether your baby has the full, mosaic or partial form of Patau's syndrome, or how severely they will be affected.
About 7 in 10 (70%) of pregnancies diagnosed with Patau's syndrome through screening will end in miscarriage or stillbirth.
The chance of miscarriage becomes lower as the pregnancy goes on, but the risk of stillbirth remains.
How Patau's syndrome affects babies
If your baby is affected by Patau's syndrome, they will most likely have some health conditions. Exactly how your baby is affected depends on which form of Patau's syndrome they have.
The full form of Patau's syndrome is considered a life-limiting condition, meaning it can affect how long a baby lives.
About 4 in 10 (43.1%) babies with the full form of Patau's syndrome live longer than 1 week. About 1 in 10 (9.7%) live longer than 5 years.
Babies born with the full form of Patau's syndrome will have a learning disability that may be severe. They are also likely to have several health conditions, some of which can be serious. Based on the figures:
- about 8 in 10 (80%) will have heart problems
- about 6 in 10 (60%) will have cleft lip and/or palate
- about 6 in 10 (60%) will have issues with brain development
- about 5 in 10 (50%) will have seizures
- about 5 in 10 (50%) will have hearing loss
- about 5 in 10 (50%) will have joint contractures (shortening of muscle tissue that can cause a deformity)
- about 5 in 10 (50%) will have eye issues or an absent eye
At present, we cannot predict how babies with the mosaic or partial forms of Patau's syndrome will be affected, because this depends on:
- how many cells contain the extra chromosome (mosaic)
- how much of the extra chromosome they have (partial)
Some babies may have severe health problems similar to those seen in the full form of Patau's syndrome. Others may have much milder health issues. There are even cases where the baby appears to have no health issues at all.
Most babies with some form of Patau's syndrome will have some degree of learning disability.
Life expectancy for babies with the mosaic or partial forms of Patau's syndrome also varies a great deal. Some live long lives, while others have a much shorter life expectancy.
Complications
Every child is different, and Patau's syndrome does not affect two children in the same way. Like any child, each one has their own personality, likes and dislikes, and the qualities that make them who they are.
Babies with the full form of Patau's syndrome usually have a low birthweight and are considered "medically fragile." This means they face a high risk of infections and complications that need hospital treatment. They may also:
- have difficulty feeding, and may need to be fed through a tube
- have difficulty breathing, including apnoea, which means pauses in their breathing
Despite their complex needs, children with Patau's syndrome can make progress in their development, even if it happens slowly.
Many children are reported to be able to communicate their needs and show awareness of their surroundings, and some can sit or stand with support. There are also cases of older children attending school.
Congenital and rare condition register
Babies with Patau's syndrome are included in the secure congenital and rare condition register, known as CARDRISS. The register is maintained by Public Health Scotland.
It records how many babies have this condition, along with some relevant personal information.
It is also used to help plan and improve health, care, and other public services.
Read more about CARDRISS.
Further information and support
You can find out more about Patau's syndrome, including stories from parents of a child with the syndrome, at SOFT UK, the Support Organisation for Trisomy 13/18.
Please do not include personal information such as a name, location, or details of any personal health conditions.