Trisomy 18 Syndrome Chromosome Disorder Information
Welcome to my Trisomy 18 lens, a page created to offer education on Trisomy 18 also known as Edwards Syndrome. Until a few days ago I had never heard of this chromosome disorders birth defect and since learning of it, I have felt compelled to offer resources for expecting parents with babies who have a Trisomy 18 diagnosis. When I first began looking for information on Trisomy I was not able to locate a great deal of helpful information. So, I decided to create this lens for anyone looking for info on this birth defect and to offer support resources to women who have had a Trisomy 18 diagnosis.
Trisomy 18 Syndrome is considered "Not Completable With life"
Please do not be discouraged because I have not had first hand experience with Trisomy 18, as I have done a massive amount of research online, in the library and read 100's of stories from women who were expecting Trisomy 18 diagnosis babies.
Within the US alone, Trisomy 18 Syndrome occurs in approximately 1 in 6000-8000 live births. Please not, this information is not here to scare you, rather educate you on Trisomy 18 aka Edwards Syndrome.
Trisomy 18 Syndrome is considered "Not Completable With life"
Please do not be discouraged because I have not had first hand experience with Trisomy 18, as I have done a massive amount of research online, in the library and read 100's of stories from women who were expecting Trisomy 18 diagnosis babies.
Within the US alone, Trisomy 18 Syndrome occurs in approximately 1 in 6000-8000 live births. Please not, this information is not here to scare you, rather educate you on Trisomy 18 aka Edwards Syndrome.
About Trisomy 18
Trisomy 18 or Edwards Syndrome is a genetic disorder caused by the presence of all or part of an extra 18th chromosome and severely affects all fetal organ systems. During conception 23 chromosomes from the father and 23 chromosomes from the mother combine to create a baby with a set of 46 chromosomes in each cell. A trisomy occurs when a baby has three 18 chromosomes instead of the normal two. Chromosome 18 is one of the 23 pairs of chromosomes in humans.
The risk of chromosomal abnormalities typically increases with maternal age; in approximately 90% of cases, the extra chromosome is maternal in origin.
It is important for parents to know, that they have done nothing before or during pregnancy to cause this disorder.
Edwards Syndrome is named after John H. Edwards, whom first described the syndrome around 1960.
Among liveborn children, Trisomy 18 is the second most common Autosomal Trisomy after Trisomy 21. Edwards syndrome is more severe than the more common Down syndrome. The disorder is characterized by severe psychomotor and growth retardation, microcephaly, microphthalmia, malformed ears, micrognathia or retrognathia, microstomia, distinctively clenched fingers, and other congenital malformations.
Trisomy 18 is detectable during the prenatal and newborn periods. Generally it is detected via sonogram, amnio and bloodwork which is performed at 10-13 weeks' gestation for pregnant women.
Most fetuses with Trisomy 18 have detectable structural abnormalities that can be seen via ultrasound. Ultrasonographic abnormalities include microcephaly and posterior fossa enlargement associated with cerebellar hypoplasia. Two-vessel umbilical cord, Abnormal strawberry or lemon shaped fetal head, Intrauterine growth retardation, and Choroid plexus cysts are also anomalies detectable with prenatal ultrasound.
Many fetuses are stillborn before term but a live birth with this condition is possible. According to the Trisomy 18 Foundation, 50% of babies who are carried to term will be stillborn, with baby boys having higher stillbirth rate than baby girls.
Some children will be discharged from the hospital with home nursing support for their families. And although less than 10% survive to their first birthdays, some children with Trisomy 18 can enjoy many years of life with their families, reaching milestones and being involved with their community. A small number of adults with Trisomy 18 have and are living into their twenties and thirties, although with significant developmental delays that do not allow them to live independently without assisted care giving.
Quick Facts:
1. More than 90% of infants with trisomy 18 have cardiac malformations.
2. The most common abnormalities are ventricular septal defects with polyvalvular heart disease.
3. Cleft lip , cleft palate, malformed ears and Microphthalmia are common Facial deformities.
4. Elongated skull and wide fontanels are Cranial deformities found to affect many with Trisomy 18.
5. Delayed psychomotor development and mental retardation are Neurological deformities.
The risk of chromosomal abnormalities typically increases with maternal age; in approximately 90% of cases, the extra chromosome is maternal in origin.
It is important for parents to know, that they have done nothing before or during pregnancy to cause this disorder.
Edwards Syndrome is named after John H. Edwards, whom first described the syndrome around 1960.
Among liveborn children, Trisomy 18 is the second most common Autosomal Trisomy after Trisomy 21. Edwards syndrome is more severe than the more common Down syndrome. The disorder is characterized by severe psychomotor and growth retardation, microcephaly, microphthalmia, malformed ears, micrognathia or retrognathia, microstomia, distinctively clenched fingers, and other congenital malformations.
Trisomy 18 is detectable during the prenatal and newborn periods. Generally it is detected via sonogram, amnio and bloodwork which is performed at 10-13 weeks' gestation for pregnant women.
Most fetuses with Trisomy 18 have detectable structural abnormalities that can be seen via ultrasound. Ultrasonographic abnormalities include microcephaly and posterior fossa enlargement associated with cerebellar hypoplasia. Two-vessel umbilical cord, Abnormal strawberry or lemon shaped fetal head, Intrauterine growth retardation, and Choroid plexus cysts are also anomalies detectable with prenatal ultrasound.
Many fetuses are stillborn before term but a live birth with this condition is possible. According to the Trisomy 18 Foundation, 50% of babies who are carried to term will be stillborn, with baby boys having higher stillbirth rate than baby girls.
Some children will be discharged from the hospital with home nursing support for their families. And although less than 10% survive to their first birthdays, some children with Trisomy 18 can enjoy many years of life with their families, reaching milestones and being involved with their community. A small number of adults with Trisomy 18 have and are living into their twenties and thirties, although with significant developmental delays that do not allow them to live independently without assisted care giving.
Quick Facts:
1. More than 90% of infants with trisomy 18 have cardiac malformations.
2. The most common abnormalities are ventricular septal defects with polyvalvular heart disease.
3. Cleft lip , cleft palate, malformed ears and Microphthalmia are common Facial deformities.
4. Elongated skull and wide fontanels are Cranial deformities found to affect many with Trisomy 18.
5. Delayed psychomotor development and mental retardation are Neurological deformities.
Although women in their 20s and 30s may conceive Edwards Syndrome babies, there is an increased risk of conceiving a child with Edwards Syndrome as a woman's age increases, with the average age for this disorder being 32½.
Types of Trisomy 18
* Full Trisomy 18: The most common type of Trisomy 18 (occurring in about 95% of all cases) is full Trisomy. With full Trisomy, the extra chromosome occurs in every cell in the baby's body. This type of trisomy is not hereditary. It is not due to anything the parents did or did not do-either before or during pregnancy.
* Partial Trisomy 18: Partial trisomies are very rare. They occur when only part of an extra chromosome is present. Some partial Trisomy 18 syndromes may be caused by hereditary factors. Very rarely, a piece of chromosome 18 becomes attached to another chromosome before or after conception. Affected people have two copies of chromosome 18, plus a "partial" piece of extra material from chromosome 18.
* Mosaic Trisomy 18: Mosaic trisomy is also very rare. It occurs when the extra chromosome is present in some (but not all) of the cells of the body. Like full Trisomy 18, mosaic Trisomy is not inherited and is a random occurrence that takes place during cell division.
* Partial Trisomy 18: Partial trisomies are very rare. They occur when only part of an extra chromosome is present. Some partial Trisomy 18 syndromes may be caused by hereditary factors. Very rarely, a piece of chromosome 18 becomes attached to another chromosome before or after conception. Affected people have two copies of chromosome 18, plus a "partial" piece of extra material from chromosome 18.
* Mosaic Trisomy 18: Mosaic trisomy is also very rare. It occurs when the extra chromosome is present in some (but not all) of the cells of the body. Like full Trisomy 18, mosaic Trisomy is not inherited and is a random occurrence that takes place during cell division.
How do I decide what is best for me?
When a diagnosis is made of Trisomy 18, often the doctor will explain what it is and offer the family to be two options. The mother can elect to carry her unborn child to term or opt for an abortion.
As a mother, this will probably be the hardest decision you will ever make! Regardless of your decision, I can understand why you would select either option.
Many women wish to carry to term in hopes they will be able to meet their baby and get too know him or her, even if it is just for 10 minutes. Many women who are expecting babies who have a life threatening illness cherish their pregnancies as long as possible, as they feel their baby is safe in the womb.
While others decide to abort because they do not feel like they could deal with the loss of a born child and some come to the decision because they do not wish to bring a child into the world who will have a life long illness that is incurable. They do not decide to abort as a method of birth control, rather feel an abortion would spare their child any pain or suffering he or she many incur once born.
The decision to carry to term or abort is one decision you will live with for the rest of your life. I would give it long hard thought and consider your partners feelings as well.
As a mother, this will probably be the hardest decision you will ever make! Regardless of your decision, I can understand why you would select either option.
Many women wish to carry to term in hopes they will be able to meet their baby and get too know him or her, even if it is just for 10 minutes. Many women who are expecting babies who have a life threatening illness cherish their pregnancies as long as possible, as they feel their baby is safe in the womb.
While others decide to abort because they do not feel like they could deal with the loss of a born child and some come to the decision because they do not wish to bring a child into the world who will have a life long illness that is incurable. They do not decide to abort as a method of birth control, rather feel an abortion would spare their child any pain or suffering he or she many incur once born.
The decision to carry to term or abort is one decision you will live with for the rest of your life. I would give it long hard thought and consider your partners feelings as well.
Be Not Afraid is an online outreach to parents who have received a poor or difficult prenatal diagnosis. The family stories, articles, and links within this site are presented as a resource for those who may have been asked to choose between terminating a pregnancy or continuing on despite the diagnosis.
Trisomy 18 / Edwards Syndrome Stories
Over the past several days I have read 100's of stories of families who lives have been affected by Edwards Syndrome. Each experience is different and every family deals with it differently.
Here are some heart wrenching stories of the struggle to accept the fact a baby has Edwards Syndrome, how many families cherish every moment they share with their babies and a great deal of inspiration!
Here are some heart wrenching stories of the struggle to accept the fact a baby has Edwards Syndrome, how many families cherish every moment they share with their babies and a great deal of inspiration!
- Georgianna's Choice
- Story of baby Liam.
- Abigail's Story
- Story of baby Abigail.
- Marie's Story
- Story of baby Marie.
- Simon's Story
- Story of baby Simon.
- Claire's Journal
- Sharing the life of baby Claire.
- Mari Rae Story
- Story of baby Mari Rae.
Carrying To Term Support
Resources for women who continue their pregnancies to term following an adverse prenatal diagnosis.
- A Child of Promise
- A Child of Promise was founded to support and guide families who are making the difficult choice to continue their pregnancies to term following an adverse prenatal diagnosis.
- Prenatal Partners for Life
- Support information & encouragement for carrying to term with an adverse prenatal diagnosis and support for raising your child with special needs after birth
Perinatal Hospice
Perinatal Hospice offers physical, emotional and spiritual support for for families who wish to continue their pregnancies with babies who likely will die before or shortly after birth. A perinatal hospice approach walks with these families on their journey through pregnancy, birth and death, honoring the baby as well as the family.
View the complete list of programs and support in your area.
View the complete list of programs and support in your area.
Support & Resources
- Support Organization for Trisomy
- SOFT is a network of families and professionals dedicated to providing support and understanding to families involved in the issues and decisions surrounding the diagnosis and care in Trisomy 18, 13 and related chromosomal disorders. Support is provided during prenatal diagnosis, the child's life and after the child's passing. SOFT is committed to respect a family's personal decision - in alliance with a parent / professional partnership.
- Trisomy Online
- Trisomy Online is a free email based support group that was formed in 1997 for families and professionals whose lives have been touched by the diagnosis of a trisomy condition.
- Now I Lay Me Down to Sleep Foundation
- Administers a network of almost 6,000 volunteer photographers in the United States and twenty-five international countries. At a family's request, a NILMDTS Affiliated Photographer will come to your hospital or hospice location and conduct a sensitive and private portrait session. The portraits are then professionally retouched and presented to the families on an archival DVD or CD that can be used to print portraits of their cherished baby.
NOW I LAY ME DOWN TO SLEEP is a 501(c)(3) non-profit organization, IRS EIN# 77-0656322. All proceeds go directly into the operation of this organization to help parents who are experiencing an early infant loss. - Chromosome 18 Registry & Research Society
- The Chromosome 18 Registry & Research Society is a lay advocacy organization composed primarily of the parents of individuals with a chromosome 18 abnormality.
- A Butterfly's Touch
- A non-profit Christian organization providing support to parents whose lives have been impacted by the heartbreaking loss of a child to early pregnancy loss, stillbirth, or newborn death.
- Is There Hope After a Poor Prenatal Diagnosis?
- This site offers many resources and presents stories of families who have experienced a variety of diagnoses. There is also an onsite message board for parents who want to talk about a prenatal diagnosis.
- Noah's Never Ending Rainbow:A National Trisomy Organization
- A support, education, and awareness organization for parents of children (and for those expecting children) born with Trisomies and related chromosome disorders.
- Trisomy Kids Are Special
- A very personable and reassuring website combining "trisomy awareness" with a great selection of support/information links for the rarer trisomies.
Help fight birth defects, premature birth
The mission of the March of Dimes is to improve the health of babies by preventing birth defects, premature birth, and infant mortality.
Trisomy 18 Foundation
The mission of the Trisomy 18 Foundation is to improve the lives of families who receive a Trisomy 18 diagnosis for their child through national leadership in research, education and support, and advocacy. We have a vibrant online community of families supporting each other and a growing list of educational, research and legislative advocacy initiatives. Visit the Trisomy 18 Foundation Great Books For Dealing With The Loss Of A Child
Reader Feedback
irbit wrote...
I have recently lost my babygirl to Edward's syndrome. I am too trying to write a lens about our experience but it's very hard as it's so personal.
Brilliant lens.Thank you
Posted August 14, 2009
Lensmaster
Diana Guptill wrote
We have a full trisomy 18 daughter who is 18, almost 19 years old. She's a joy and blessing! We had 5 children at the time when I became pregnant with our beautiful daughter. I was almost 40 when she was born. She was born 7 weeks premature and remained in the hospital for 6 weeks.
The doctors unfortuntely, even today, paint a very bleak picture for parents. It is usually, 'no hope' and you would be better off to abort. We chose to trust in God and chose to continue with the pregnancy. It's been a long road, but worth every footstep! Doctors and parents learn right along side each other. My advice to parents is 'be postive and hopeful and accept what God gives you.'
He didn't throw all our daughter's problems in a basket and tell us, 'deal with it.' We got our challenges one and sometimes two at a time, but He was always there for us. Kirsten is so loved by all of her family. We wouldn't trade having this experience for the world!
Posted December 05, 2008
Cari_Kay wrote...
An excellent resource. I remember all too well the OB-GYN and geneticist recommending abortion for my son due to Down Syndrome. I told them Down Syndrome was only a small part of who my child would be and I already loved that child more than anything. He ended up being born without DS but I still remember the pain of hearing somebody suggest I should abort my beloved child. Heartwrenching. I feel for all women who have heard those words.
Posted November 15, 2008
