Trisomy 18

Common Name(s)

Trisomy 18, Edwards Syndrome

Trisomy 18 is a chromosomal condition associated with severe intellectual disability and abnormalities in many parts of the body. Affected individuals often have a low birth weight; a small, abnormally shaped head; a small jaw and mouth; clenched fists with overlapping fingers; heart defects; and abnormalities of other organs.  Due to the presence of several life-threatening medical problems, fifty percent of infants with this condition do not survive beyond the first week of life. Some children have survived to teenage years, but with serious medical and developmental problems.  Most cases of Trisomy 18 result from having three copies of chromosome 18 in each cell in the body instead of the usual two copies. Most causes are not inherited and occur by chance.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Trisomy 18" for support, advocacy or research.

Hope for Trisomy 13 and 18

OUR MISSION The mission of Hope For Trisomy is to 1) FUND RESEARCH for rare trisomies and related chromosome disorders; 2) PROMOTE EDUCATION by developing programs that educate parents of children with Trisomy about options available to their child and teach them how to advocate for their child to receive all available treatment; 3) RAISE AWARENESS by creating and contributing to materials, literature, workshops, seminars, and conferences to educate the medical health professionals, the parents, and the public about Trisomy, so they have accurate and current information and resources available

Last Updated: 7 Aug 2013

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Support Organization for Trisomy 18, 13 & Related Disorders

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 can be provided during prenatal diagnosis, the child's life and after the child's passing. SOFT is committed to respect a family's personal decision and to the notion of parent - professional relationships.

Last Updated: 12 Aug 2013

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Support Organization for Trisomy in Australia

S.O.F.T. Australia 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.

Last Updated: 3 Oct 2013

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The Arms of an Angel- Trisomy 18 Association

We are a 501 (c) (3) non-profit organization dedicated to the needs of families affected by the genetic disorder Trisomy 18. It is our mission to provide emotional and financial support to these special families. We will provide information to the community based upon mutual respect, comfort, and understanding, in an attempt to ease the suffering of those experiencing this painful journey. We will work diligently to answer questions that may arise for families of children with Trisomy 18, and provide up-to-date and pertinent information regarding this disorder.

Last Updated: 7 Mar 2013

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Trisomy 18 Foundation

The Trisomy 18 Foundation (T18F) is the leading national organization devoted exclusively to improving outcomes for Trisomy 18 families in the United States. Committed to the support of medical research in finding effective treatments and preventions for Trisomy 18. The T18F also educates patient families and physicians about prevention, diagnosis and the treatment of Trisomy 18. The T18F is an active advocate for the Trisomy 18 community, helping to raise awareness of this disease and the need for treatments. The T18F's website is the premier source for educating the public about Trisomy 18 and impacted families..

Last Updated: 29 Apr 2014

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General Support Organizations

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How do you compare to others with this condition?

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Trisomy 18" for support, advocacy or research.

Hope for Trisomy 13 and 18

OUR MISSION The mission of Hope For Trisomy is to 1) FUND RESEARCH for rare trisomies and related chromosome disorders; 2) PROMOTE EDUCATION by developing programs that educate parents of children with Trisomy about options available to their child and teach them how to advocate for their child to receive all available treatment; 3) RAISE AWARENESS by creating and contributing to materials, literature, workshops, seminars, and conferences to educate the medical health professionals, the parents, and the public about Trisomy, so they have accurate and current information and resources available

http://www.hopefortrisomy13and18.org

Last Updated: 7 Aug 2013

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Support Organization for Trisomy 18, 13 & Related Disorders

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 can be provided during prenatal diagnosis, the child's life and after the child's passing. SOFT is committed to respect a family's personal decision and to the notion of parent - professional relationships.

http://www.trisomy.org

Last Updated: 12 Aug 2013

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Support Organization for Trisomy in Australia

S.O.F.T. Australia 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.

http://www.trisomyaustralia.com/

Last Updated: 3 Oct 2013

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The Arms of an Angel- Trisomy 18 Association

We are a 501 (c) (3) non-profit organization dedicated to the needs of families affected by the genetic disorder Trisomy 18. It is our mission to provide emotional and financial support to these special families. We will provide information to the community based upon mutual respect, comfort, and understanding, in an attempt to ease the suffering of those experiencing this painful journey. We will work diligently to answer questions that may arise for families of children with Trisomy 18, and provide up-to-date and pertinent information regarding this disorder.

http://www.trisomy18dallas.org

Last Updated: 7 Mar 2013

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Trisomy 18 Foundation

The Trisomy 18 Foundation (T18F) is the leading national organization devoted exclusively to improving outcomes for Trisomy 18 families in the United States. Committed to the support of medical research in finding effective treatments and preventions for Trisomy 18. The T18F also educates patient families and physicians about prevention, diagnosis and the treatment of Trisomy 18. The T18F is an active advocate for the Trisomy 18 community, helping to raise awareness of this disease and the need for treatments. The T18F's website is the premier source for educating the public about Trisomy 18 and impacted families..

http://www.trisomy18.org

Last Updated: 29 Apr 2014

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General Support Organizations

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General Resources

Trisomy 18 Foundation Facebook Page

Over 34,000 Fans (as of 1/1/13) connecting with T18F news and updates and establishing peer connections to share information about Trisomy 18 and the children they love impacted with Trisomy 18.

Uploaded By: Trisomy 18 Foundation

Updated 4 Jan 2013

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Trisomy 18 YouTube Channel: Tell your Own Story

Playlists featuring the lives of families with their children coping with various aspects of Trisomy 18 -- 100s of videos

Uploaded By: Trisomy 18 Foundation

Updated 4 Jan 2013

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2012 Top Rated NonProfit Award by GreatNonProfits.org

Trisomy 18 Foundation constituent ratings and testimonials about their experience with T18F led to the awarding of 2012 Top-Rated NonProfit Award.

Uploaded By: Trisomy 18 Foundation

Updated 4 Jan 2013

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Blogs

Taking on Trisomy 18: News, Analysis and Commentary from the Trisomy 18 Foundation

Blog by CEO Victoria Miller on issues of the day regarding Trisomy 18 and Trisomy 18 community experiences.

Uploaded by: Trisomy 18 Foundation

Updated 4 Jan 2013

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Trisomy 18" returned 115 free, full-text research articles on human participants. First 3 results:

The natural history of pregnancies with a diagnosis of trisomy 18 or trisomy 13; a retrospective case series.
 

Author(s): Orla A Houlihan, Keelin O'Donoghue

Journal:

 

Trisomy 18 (T18) and trisomy 13 (T13) are the second and third commonest autosomal aneuploidy syndromes respectively. While specific aspects of affected pregnancies have been documented in the literature, few studies document the overall natural history of the trisomies. This study ...

Last Updated: 17 Jan 2014

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Non-invasive prenatal testing of trisomy 18 by an epigenetic marker in first trimester maternal plasma.
 

Author(s): Da Eun Lee, Shin Young Kim, Ji Hyae Lim, So Yeon Park, Hyun Mee Ryu

Journal:

 

Quantification of cell-free fetal DNA by methylation-based DNA discrimination has been used in non-invasive prenatal testing of fetal chromosomal aneuploidy. The maspin (Serpin peptidase inhibitor, clade B (ovalbumin), member 5; SERPINB5) gene, located on chromosome 18q21.33, is hypomethylated ...

Last Updated: 13 Nov 2013

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Frontomaxillary facial angle measurement in screening for trisomy 18 at 11 + 0 to 13 + 6 weeks of pregnancy: a double-centre study.
 

Author(s): Bartosz Czuba, Wojciech Cnota, Agata Wloch, Piotr Wegrzyn, Krzysztof Sodowski, Miroslaw Wielgos, Dariusz Borowski

Journal: Biomed Res Int. 2013 ;2013():168302.

 

The aim of this study was to evaluate the effectiveness of prenatal screening for trisomy 18 with the use of the frontomaxillary facial angle (FMF angle) measurement.

Last Updated: 6 Nov 2013

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Trisomy 18" returned 7 free, full-text review articles on human participants. First 3 results:

Diffuse large B-cell lymphoma of the uterus suspected of having transformed from a marginal zone B-cell lymphoma harboring trisomy 18: a case report and review of the literature.
 

Author(s): Kei-Ji Sugimoto, Hidenori Imai, Asami Shimada, Mutsumi Wakabayashi, Yasunobu Sekiguchi, Noriko Nakamura, Tomohiro Sawada, Hiroshi Izumi, Yasunori Ota, Norio Komatsu, Masaaki Noguchi

Journal:

 

The patient was a 72-year-old female with the chief complaint of abdominal fullness. A giant primary myoma of the uterine cervix was suspected, and total hysterectomy was performed. Based on a postoperative histopathological examination of the tumor a diagnosis of diffuse large B-cell ...

Last Updated: 2 Dec 2013

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[Double aneuploidy (trisomy X, trisomy 18) in a newborn with trisomy 18 phenotype].
 

Author(s): Harry Pachajoa

Journal: Arch Argent Pediatr. ;111(4):e101-4.

 

We report the case of a newborn girl with a double trisomy, with a chromosome complement 48,XXX,+18, with Edwards syndrome phenotype (trisomy 18). The clinical feature included intrauterine growth retardation, dysmorphic facies, hand with overlapping fingers, ventricular septal defect, ...

Last Updated: 5 Aug 2013

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Trisomy 18: review of the clinical, etiologic, prognostic, and ethical aspects.
 

Author(s): Rafael Fabiano M Rosa, Rosana Cardoso M Rosa, Paulo Ricardo G Zen, Carla Graziadio, Giorgio Adriano Paskulin

Journal: Rev Paul Pediatr. ;31(1):111-20.

 

To review the clinical, etiological, diagnostic, and prognostic characteristics of trisomy 18 (Edwards syndrome).

Last Updated: 24 May 2013

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

There are currently no related results available in Genetic Testing Registry.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Non-Invasive Determination of Fetal Chromosome Abnormalities
 

Status: Recruiting

Condition Summary: Down Syndrome (Trisomy 21); Edward's Syndrome (Trisomy 18); Patau Syndrome (Trisomy 13); Klinefelter Syndrome (47, XXY); and Other Chromosome; Abnormalities.

 

Last Updated: 30 Apr 2009

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Prenatal Non-invasive Aneuploidy Test Utilizing SNPs Trial
 

Status: Recruiting

Condition Summary: Trisomy 13; Trisomy 18; Trisomy 21; Aneuploidy

 

Last Updated: 29 Aug 2013

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Development of Non-invasive Prenatal Test for Microdeletion/Duplication and Other Genetic Syndromes Based on Fetal DNA Isolated From Maternal Blood
 

Status: Recruiting

Condition Summary: Microdeletion Syndromes; Trisomy 21; Trisomy 18; Trisomy 13; Sex Chromosome Abnormalities

 

Last Updated: 8 Apr 2014

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