Edwards syndrome

"Edwards' 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 Edwards syndrome Edwards syndrome Edwards syndrome (also known as trisomy 18) is a genetic condition that begins to affect babies when theyre in the womb, and continues to impact their health throughout their life. Its a rare but serious condition. In the UK, around 3 in every 10,000 births are affected by Edwards syndrome. What is Edwards 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 Edwards syndrome, they have inherited an extra copy of chromosome 18. 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 Edwards syndrome: Full form In full form Edwards syndrome, the baby has inherited a complete extra copy of chromosome 18. This extra copy is present in all of the babys cells. Around 94% of babies born with Edwards syndrome have the full form of the syndrome. Mosaic form In mosaic form Edwards syndrome, the baby has inherited a complete extra copy of chromosome 18, but the copy is only present in some of the babys cells. Partial form In partial form Edwards syndrome, the baby has only inherited part of an extra copy of chromosome 18. This is a very rare form of Edwards syndrome. Why does Edwards 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 Edwards syndrome on pregnancy Screening for Edwards syndrome Youll be offered screening for Edwards 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 Edwards syndrome. If screening shows that theres a high chance your baby has Edwards 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 Edwards syndrome or how theyll be affected. Risk of miscarriage and stillbirth Around 7 in 10 (70%) of pregnancies diagnosed with Edwards 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 Edwards syndrome on babies If your baby is affected by Edwards syndrome, it is likely they will have associated health conditions (other conditions often found in babies with Edwards syndrome). Some of these may be serious. Exactly how your baby is affected will depend on the form of Edwards syndrome they have. Babies with full form Edwards syndrome Full form Edwards syndrome is considered to be a life-limiting condition. This means it can affect how long a baby can live. Around 5 in 10 (52.5%) will live longer than 1 week. Around 1 in 10 (12.3%) will live longer than 5 years. Babies born with full form Edwards syndrome will have a learning disability which may be severe. Theyre also likely to have a wide range of health conditions, some of which can be serious. Statistically: around 9 in 10 (90%) will have heart issues 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 1 in 10 (10%) will have a cleft lip and/or palate Babies with mosaic form and partial form Edwards syndrome Currently we cant predict how babies with mosaic or partial forms of Edwards 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 Edwards 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. Many babies with the mosaic form of Edwards syndrome will have some form of learning disability and developmental delay (when a child takes longer to start doing certain activities, like walking and talking, than other children their age). The life expectancy for babies with mosaic or partial forms of Edwards syndrome is also very variable. Some will live long lives, while others will have a much shorter life expectancy. Living with Edwards syndrome Each child is unique, and Edwards syndrome will affect each child differently. Like all children theyll have their own personalities, likes and dislikes, and things that make them who they are. Babies with full form Edwards 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 Edwards 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 Edwards syndrome have a good quality of life and are valued members of the family. Congenital and rare condition register Babies with Edwards 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 Edwards 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. Email Address e.g. you@example.com Message Maximum of 500 characters Send feedback Add this page to\n            Info For Me Also on NHS inform Screening for Downs syndrome, Edwards syndrome and Pataus syndrome Other health sites SOFT UK NHS inform About NHS inform Editorial policy Contact us Webchat Give feedback about NHS inform Info for Me tool Terms and conditions Privacy and cookies policy Freedom of information (FOI) Accessibility Other languages and formats  2023 NHS 24  v1.1.1.17852"