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Currently researchers are exploring the basic biological processes of development to help improve the understanding of how genes and other factors transform a single cell into a complete human. Knowing this will help researchers to better understand the development of Trisomy 18. This is just one part of all the research that is being done with this disorder.

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Each year in the United States, about one out of every 2,000 pregnancies are impacted by a Trisomy 18 diagnosis. That's thousands of infants a year whose lives are impacted by the condition. And far too many of these children will never have the opportunity to take their first breaths.

Current research studies are exploring the basic biological processes of development to improve our understanding of how genes and other factors direct the transformation from a single cell into a complete being. A more advanced understanding of that process could help reveal what can go wrong along the way to result in chromosome 18 appearing three times (trisomy) rather than twice in the cells of the body and allow scientists to have a better understanding of how the extra chromosome disrupts fetal development.

Research into advanced treatment options for children born with Trisomy 18, such as corrective surgeries, therapies and other forms of care, can also help reduce or eliminate life-threatening and quality of life challenges that children with Trisomy 18 face so that they can live longer, healthier lives.

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Each year in the United States, about one out of every 2,000 pregnancies are impacted by a Trisomy 18 diagnosis. That's thousands of infants a year whose lives are impacted by the condition. And far too many of these children will never have the opportunity to take their first breaths.

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The National Organization for Rare Disorders works to raise awareness and support for people with many different types of disorders and one of these being Trisomy 18.

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National Organization for Rare Disorders

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About Support Organization for Trisomy 18, 13, and Related Disorders

The Support Organization for Trisomy 18, 13, and Related Disorders (SOFT) is a voluntary, non-profit network consisting of affected families and professionals who are involved in the care of individuals with trisomy 18, trisomy 13, and other related disorders (e.g., other chromosomal abnormalities involving the duplication of genetic material). Established in 1979, SOFT was created to provide affected families and professionals with the additional information and support they often need when confronted with a diagnosis of trisomy 18, 13, or related chromosomal disorders. The organization enables parents to share information and support; promotes education of healthcare professionals; provides appropriate referrals to affected families; holds local chapter gatherings for interested members; and conducts an annual international conference with seminars and cost-free consultations with doctors and other professionals.

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Support Organization for Trisomy 18, 13, and Related Disorders - National Organization for Rare Disorders

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The Support Organization for Trisomy 18, 13, and Related Disorders (SOFT) is a voluntary, non-profit network consisting of affected families and professionals who are involved in the care of individuals with trisomy 18, trisomy 13, and other related disorders (e.g., other chromosomal abnormalities involving the duplication of genetic material).

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Karyotype -- Chromosome Carrying the Disorder 

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Karyotype -- Chromosome Carrying the Disorder 

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Trisomy 18 occurs when nondisjuction occurs in a reproduction cell. This means that one of the sex cells may gain an extra copy of chromosome 18. As you can see in the image above ^^^

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Some Symptoms for Trisomy 18 (Edwards Disease) are clubfeet, heart & lung abnormalities, small physical size, decreased muscle tone, low set ears, and overlapping fingers.

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The National Organization for Rare Disorders works to raise awareness and support for people with many different types of disorders and one of these being Trisomy 18.

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National Organization for Rare Disorders

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About Support Organization for Trisomy 18, 13, and Related Disorders

The Support Organization for Trisomy 18, 13, and Related Disorders (SOFT) is a voluntary, non-profit network consisting of affected families and professionals who are involved in the care of individuals with trisomy 18, trisomy 13, and other related disorders (e.g., other chromosomal abnormalities involving the duplication of genetic material). Established in 1979, SOFT was created to provide affected families and professionals with the additional information and support they often need when confronted with a diagnosis of trisomy 18, 13, or related chromosomal disorders. The organization enables parents to share information and support; promotes education of healthcare professionals; provides appropriate referrals to affected families; holds local chapter gatherings for interested members; and conducts an annual international conference with seminars and cost-free consultations with doctors and other professionals.

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Support Organization for Trisomy 18, 13, and Related Disorders - National Organization for Rare Disorders

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The Support Organization for Trisomy 18, 13, and Related Disorders (SOFT) is a voluntary, non-profit network consisting of affected families and professionals who are involved in the care of individuals with trisomy 18, trisomy 13, and other related disorders (e.g., other chromosomal abnormalities involving the duplication of genetic material).

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Currently researchers are exploring the basic biological processes of development to help improve the understanding of how genes and other factors transform a single cell into a complete being. Knowing this will help researchers to better understand the development of Trisomy 18. This is just one part of all the research that is being done with this disorder.

# data[].attributes.attachment_link.readable_text
Each year in the United States, about one out of every 2,000 pregnancies are impacted by a Trisomy 18 diagnosis. That's thousands of infants a year whose lives are impacted by the condition. And far too many of these children will never have the opportunity to take their first breaths.

Current research studies are exploring the basic biological processes of development to improve our understanding of how genes and other factors direct the transformation from a single cell into a complete being. A more advanced understanding of that process could help reveal what can go wrong along the way to result in chromosome 18 appearing three times (trisomy) rather than twice in the cells of the body and allow scientists to have a better understanding of how the extra chromosome disrupts fetal development.

Research into advanced treatment options for children born with Trisomy 18, such as corrective surgeries, therapies and other forms of care, can also help reduce or eliminate life-threatening and quality of life challenges that children with Trisomy 18 face so that they can live longer, healthier lives.

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Each year in the United States, about one out of every 2,000 pregnancies are impacted by a Trisomy 18 diagnosis. That's thousands of infants a year whose lives are impacted by the condition. And far too many of these children will never have the opportunity to take their first breaths.

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There are no treatments or cures for Trisomy 18.

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What Is Trisomy 18?

Trisomy 18 is a serious genetic condition. It is also sometimes called Edward syndrome. It can cause many different symptoms that are most often life-limiting. Not all babies with trisomy 18 will have the same differences or challenges. Some common things that can be caused by trisomy 18 include:

Heart problems

Kidney problems

Clenched hands

Slow growth during pregnancy

Cleft lip and/or palate

Trisomy 18 also causes challenges after birth, such as:

Breathing problems

Severe intellectual disability

Feeding problems

Seizures

Hearing problems

What Causes Trisomy 18?

Most people have two copies of each chromosome. Our chromosomes hold all our genetic information. Trisomy 18 happens when there is an extra copy of chromosome 18 in either the egg or the sperm before conception. This means that the baby will have three copies of chromosome 18 instead of two. The extra chromosome can cause differences in the way a baby develops. Most often, trisomy 18 happens by chance. It is not caused by anything you did or did not do during your pregnancy.

How Common Is Trisomy 18?

Trisomy 18 happens in about one in 3,300 pregnancies in the United States. The risk for trisomy 18 goes up as a mother gets older, but any woman at any age can have a baby with trisomy 18.

Are There Different Types of Trisomy 18?

Most of the time, a baby with trisomy 18 has the extra copy of chromosome 18 in all the cells in their body. Less commonly, some cells have the extra copy of chromosome 18 but some do not. When this happens, it is called "mosaic trisomy 18". People with mosaic trisomy 18 might have milder symptoms.

How Is Trisomy 18 Diagnosed?

Most babies with trisomy 18 will have abnormal ultrasound findings during pregnancy. These findings might be seen in the first trimester, but they are more commonly seen during a second trimester ultrasound.

There are also genetic tests for trisomy 18 during pregnancy. Some tests, called "screening tests", can be done using a sample of the mother's blood to determine if there is a high risk for trisomy 18 in the baby. These screening tests cannot diagnose or rule out trisomy 18 for sure. The way to get a more definite answer about trisomy 18 is with "diagnostic" genetic testing. Diagnostic genetic testing for trisomy 18 can be done by testing the placenta (called a "chorionic villi sample" or CVS) during the first trimester of pregnancy or the amniotic fluid (called an "amniocentesis") during the second or third trimesters. These tests pose a small risk for miscarriage or preterm labor, most often less than one in 500 (0.2%).

Some people may have genetic testing as part of their normal pregnancy care and a high-risk or diagnostic result for trisomy 18 may be unexpected. Other people may have genetic testing after abnormal ultrasound findings raised the concern for trisomy 18 to get more certain answers about the diagnosis.

What Are the Treatment or Intervention Options?

There are no treatments or cures for the extra chromosome that causes trisomy 18. Treatment for babies and children with trisomy 18 is focused on the symptoms they have. There have been recent studies to see if there are treatments that can improve the quality or length of the lives of babies with trisomy 18. Even with these treatments, children with trisomy 18 will not grow and learn the same way as other children and they will have a shortened lifespan.

After learning about the diagnosis of trisomy 18, families can choose to continue or to end their pregnancy. These decisions are personal and each family's decision is unique. Both are decisions made by loving parents. For those who continue the pregnancy, parents often consider what "quality of life" means to them and what treatment options would best support this. Some of these treatments might include surgeries, medicines, breathing machines, and feeding tubes. But the symptoms and treatments might be difficult. Some families choose to focus on treatments that will keep the baby comfortable, instead of treatments to extend their life. This is called "comfort care".

What Is the Long-term Outlook?

Unfortunately, trisomy 18 is often a severe condition and most babies with it do not survive to their first birthday. However, some babies with trisomy 18 have milder symptoms and can survive longer. For babies who survive longer, they usually need frequent visits to their primary care and specialist doctors. They may need frequent hospital stays, surgeries, or other medical treatments.

All babies with trisomy 18 have developmental delays and intellectual disability; they may not learn how to do things that typical children do, such as walk and talk. Children with trisomy 18 will require special care for their entire lives.

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Trisomy 18 | Causes, Types, Diagnosis & Treatment

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Trisomy 18 is a serious genetic condition. It is also sometimes called Edward syndrome. It can cause many different symptoms that are most often life-limiting. Not all babies with trisomy 18 will have the same differences or challenges.

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Symptoms include severe intellectual disability, being born lighter, small and abnormal head, small jaw and mouth, clenched fists with overlapping fingers, and congenital heart defects.

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is a chromosome disorder characterized by having 3 copies of chromosome 18 instead of the usual 2 copies. Signs and symptoms include severe intellectual disability; low birth weight; a small, abnormally shaped head; a small jaw and mouth; clenched fists with overlapping fingers; congenital heart defects; and various abnormalities of other organs. Trisomy 18 is a life-threatening condition; many affected people die before birth or within the first month of life. Some children have survived to their teenage years, but with serious medical and developmental problems. Most cases are not inherited and occur sporadically (by chance).

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is a chromosome disorder characterized by having 3 copies of chromosome 18 instead of the usual 2 copies. Signs and symptoms include severe intellectual disability; low birth weight; a small, abnormally shaped head; a small jaw and mouth; clenched fists with overlapping fingers; congenital heart defects; and various abnormalities of other organs.

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Karyotype -- Chromosome Carrying the Disorder

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Karyotype -- Chromosome Carrying the Disorder

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Trisomy 18 occurs when nondisjuction occurs in a reproduction cell. This means that one of the sex cells may gain an extra copy of chromosome 18. As you see in the image above^^^

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Trisomy 18 occurs every 1 in 2000-6000 live births. It is more likely to occur as the mother ages but can occur randomly in parents of any age.

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For Providers: This information meets the requirements of the Prenatal Trisomy Diagnosis Awareness Act (MS 145.471) which requires educational materials be given to pregnant women following a positive screening test for trisomy 18 (Edward syndrome).

Condition Description

Trisomy 18 is a disorder in which babies are born with 3 copies of chromosome 18 instead of 2. For an unknown reason, this accident occurs at the time of conception and all cells in the body will have this structure. In 90-95% of the children with Trisomy 18 this is the case. In 5-10% of infants with Trisomy 18, only a portion of their cells may contain the extra chromosome 18 (called the mosaic type of Trisomy 18). Infants with Trisomy 18 will usually be small at birth and have a recognizable appearance caused by the extra chromosome. Some of these features include: prominent back of the head; small eyes, mouth, and jaw; unusual looking ears; clenched fist with overlapping fingers and thumbs; small fingernails; clubbed or rocker bottom soles of the feet; a short breastbone (sternum); and extra skin folds at the back of the neck.

Prevalence

Trisomy 18 occurs at a rate of 1 in 2000-6000 live births. It is somewhat more common as the mother ages but can occur randomly to parents of any age. Most babies affected are girls. There is no known cause of Trisomy 18. Studies have shown that only 50% of babies who are carried to term will be born alive. The median of survival among live births has varied between 2.5 and 14.5 days. About 90% - 95% of babies do not survive beyond the first year and many live only a few days.

Our program has been tracking Trisomy 18 among live births in select counties since 2005. Using data from Minnesota births between 2014-2018, we found 63 babies were born with Trisomy 18, resulting in a rate of 2 babies per 10,000 births. Annually, about 12 babies were born with Trisomy 18.

Common Associated Conditions

Over 90% of infants with Trisomy 18 have a congenital heart defect. The type of heart defect varies, but most would be a ventricular septal defect (opening between the lower heart chambers), an atrial septal defect (opening between the upper heart chambers), a patent ductus arteriosus (a blood vessel from fetal life that does not close), or a problem with the function of a heart valve. In about 10% of babies the heart defect is extremely severe and life-threatening (hypoplastic left heart, where the main pumping chamber is not formed). Other problems include apnea (the brain does not send a message to the body to breathe), difficulty feeding, under-developed lungs, joint and bone abnormalities (10% of babies), hearing loss (50% of babies), cleft lip (5-10% of babies), and eye defects (10% of babies). Children with this condition are also prone to develop Wilm's tumor (a tumor of the adrenal gland in the abdomen).

Short-term Treatment and Outcomes

Parents of a baby with Trisomy 18 face many difficult decisions regarding the care of their child. Some parents of severely affected infants elect to give comfort care and take their baby home to provide the best and most comfortable circumstances possible. About 10% may survive their first birthdays and enjoy many more years of life with their families and become involved with their community.

Long-term Treatment and Outcomes

Families might choose to have procedures and surgeries to allow their child to live longer with support and improve the child's quality of life. However, this is very rarely an option, because of the severity of the baby's heart defects and other malformations throughout their body. Very small numbers of children can survive as teens and young adults. If they do survive, they will require round-the-clock care and life-long home nursing support with activities of daily living. No young adults living with Trisomy 18 can live independently.

Common Complications

Babies with Trisomy 18 will be small and will grow very slowly even if given good nutrition. They may have difficulty feeding and swallowing and are at risk for recurrent pneumonias and respiratory illnesses from aspirating milk and saliva into their lungs. Seizures, urinary tract infections, delayed development, and profound levels of intellectual disability are also concerns for most babies with this condition.

Implications for Children's Development

The birth of a medically fragile child is very difficult, and families will find support from other families who have experienced similar circumstances. Parents often learn from other parents how to be the advocates for their child's needs. Support groups can be found on the internet as well as in some communities for many of the day-to-day caretaking challenges of parents. Decision-making for children with chromosomal defects is difficult and complex and parents need information and support from their medical providers and community. Listed below are organizations that provide practical information and support for families with a child with trisomy 18.

Resources

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Trisomy 18 (also known as Edwards Syndrome)

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For Providers: This information meets the requirements of the Prenatal Trisomy Diagnosis Awareness Act (MS 145.471) which requires educational materials be given to pregnant women following a positive screening test for trisomy 18 (Edward syndrome). Trisomy 18 is a disorder in which babies are born with 3 copies of chromosome 18 instead of 2.

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Trisomy 18 occurs as a random event during the formation of the embryo.

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Trisomy 18, also called Edwards syndrome, is a chromosomal condition associated with abnormalities in many parts of the body. Explore symptoms, inheritance, genetics of this condition.

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Some Symptoms for Trisomy 18 (Edwards Disease) are clubfeet, heart & lung abnormalities, small physical size, decreased muscle tone, low set ears, and overlapping fingers.

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The exact name of the disease is Edwards Syndrome.

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Edwards' syndrome (also known as trisomy 18) is a genetic condition that begins to affect babies when they're in the womb, and continues to impact their health throughout their life. It's 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 baby's cells and can lead to health problems for the baby.

There are 3 different forms of Edwards' syndrome:

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 baby's 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 baby's 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

You'll be offered screening for Edward's syndrome when you're 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 there's 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 Edward's syndrome or how they'll be affected.

Risk of miscarriage and stillbirth

Around 7 in 10 (70%) of pregnancies diagnosed with Edwards' syndrome from screening tests will end in miscarriageor stillbirth.

The risk of miscarriage decreases as the pregnancy progresses, but there's 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. They're 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 can't 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 they'll 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.

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)

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Edwards' syndrome (also known as trisomy 18) is a genetic condition that begins to affect babies when they're in the womb, and continues to impact their health throughout their life. It's a rare but serious condition. In the UK, around 3 in every 10,000 births are affected by Edwards' syndrome.