Pataus syndrome

"Patau's syndrome | NHS inform Home Illnesses and conditions Symptoms and self-help Tests and treatments Healthy living Care, support and rights Scotlands Service Directory 0 Home Illnesses and conditions Chromosomal conditions Pataus syndrome Pataus syndrome Pataus syndrome, also known as Trisomy 13, is a rare but serious genetic condition. It begins to affect babies when theyre in the womb, and will continue to cause health problems throughout their life. In the UK, around 2 in every 10,000 births are affected by Pataus syndrome. What is Pataus syndrome? When a baby is conceived (made), they inherit genetic material from both their parents. This genetic material is called a chromosome. Humans normally have 23 pairs of chromosomes. In each pair, 1 of the chromosomes is inherited from the mother and 1 is inherited from the father. If a baby has Pataus syndrome, they have inherited an extra copy of chromosome 13. This extra copy can be present in some or all of the babys cells and can lead to health problems for the baby. There are 3 different forms of Pataus syndrome: Full form In full form Pataus syndrome, the baby has inherited a complete extra copy of chromosome 13. This extra copy is present in all of the babys cells. Around 80% of babies born with Pataus syndrome have the full form of the syndrome. Mosaic form In mosaic form Pataus syndrome, the baby has inherited a complete extra copy of chromosome 13, but the copy is only present in some of the babys cells. Partial form In partial form Pataus syndrome, the baby has only inherited part of an extra copy of chromosome 13. This is a very rare form of Pataus syndrome. Why does Pataus syndrome happen? Most cases result from a random change in the egg or sperm in healthy parents. This change is not caused by anything the parents did before or during pregnancy. Effects of Pataus syndrome on pregnancy Screening for Pataus syndrome Youll be offered screening for Pataus syndrome when youre between 11 and 14 weeks pregnant. The screening test will show if your baby has a high or low chance of having Pataus syndrome. If screening shows that theres a high chance your baby has Pataus syndrome,you can choose to have a further diagnostic test if you wish. No test can tell if your baby has full, mosaic or partial Pataus syndrome, or how theyll be affected. Risk of miscarriage and stillbirth Around 7 in 10 (70%) of pregnancies diagnosed with Pataus syndrome from screening tests will end in miscarriage or stillbirth . The risk of miscarriage decreases as the pregnancy progresses, but theres still a risk of stillbirth. Effects of Pataus syndrome on babies If your baby is affected by Pataus syndrome, its likely they will have some health conditions. Exactly how your baby is affected will depend on the form of Pataus syndrome they have. Babies with full form Pataus syndrome Full form Pataus syndrome is considered to be a life-limiting condition. This means it can affect how long a baby can live. Around 4 in 10 (43.1%) babies with full form Pataus syndrome will live longer than 1 week. Around 1 in 10 (9.7%) will live longer than 5 years. Babies born with full form Pataus syndrome will have a learning disability that may be severe. Theyre also likely to have a wide range of health conditions, some of which can be serious. Statistically: around 8 in 10 (80%) will have heart issues around 6 in 10 (60%) will have cleft lip and/or palate around 6 in 10 (60%) will have issues with brain development around 5 in 10 (50%) will have seizures around 5 in 10 (50%) will have hearing loss around 5 in 10 (50%) will have joint contractures (shortening of muscle tissue that can cause a deformity) around 5 in 10 (50%) will have eye issues or an absent eye Babies with mosaic form and partial form Pataus syndrome Currently we cant predict how babies with mosaic or partial forms of Pataus syndrome will be affected. This is because it 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 like those seen in full form Pataus syndrome. Other babies may have much less serious health issues. There are even cases where the baby seems to have no health issues at all. Most babies with a form of Pataus syndrome will have some form of learning disability. The life expectancy for babies with mosaic or partial forms of Pataus syndrome is also very variable. Some will live long lives, while others will have a much shorter life expectancy. Living with Pataus syndrome Each child is unique, and Pataus syndrome will affect each child differently. Like all children they will have their own personalities, likes and dislikes, and things that make them who they are. Babies with full form Pataus syndrome usually have a low birthweight and are considered medically fragile. This means they are at high risk of infections and complications that require treatment in hospital. They may also: have difficulty feeding and may need fed by a tube have difficulty breathing and have apnoea (pauses in their breathing) Despite their complex needs, children with Pataus syndrome can make progress with their development, although slowly. Many children are reported to be able to communicate their needs, show awareness of surroundings, and some can sit and stand supported. There are also cases of older children attending school. Feedback from many parents suggests that children with Pataus syndrome have a good quality of life and are valued members of the family. Congenital and rare condition register Babies with Pataus syndrome are included in the secure congenital and rare condition (CARDRISS) register. The register is maintained by Public Health Scotland. The register records how many babies have this condition, and some relevant personal information. Its also used to support the planning and improvement of health, care, and other public services. Read more about CARDRISS Further information and support You can find out more information about Pataus syndrome, including stories from parents of a child with the syndrome, at SOFT UK (Support Organisation for Trisomy 13/ 18) Source:\r\n                                        SOFT UK - Opens in new browser window Last updated: 21 February 2024 How can we improve this page? Help us improve NHS inform Thank You Your feedback has been received Dont include personal information e.g. name, location or any personal health conditions. 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