Trisomy 18

Overview

What is Trisomy 18?

Trisomy 18 is a genetic condition that causes severe health problems and is caused by an extra number 18 chromosome. People with trisomy 18 can be affected differently, but most with complete trisomy 18 will have serious symptoms. Heart defects, brain problems and intellectual disabilities are extremely common, and the majority of affected individuals have complications in other organs as well. Most babies with trisomy 18 do not survive very long after birth or are stillborn. However, a very small number can live for some time.

References
  • http://ghr.nlm.nih.gov/condition/trisomy-18
  • http://rarediseases.org/rare-diseases/trisomy-18-syndrome/
  • Obstet Gynecol Surv. 2016 May;71(5):295-300. doi: 10.1097/OGX.0000000000000304.Management Considerations for Ongoing Pregnancies Complicated by Trisomy 13 and 18.Dotters-Katz SK1, Kuller JA2, Grace MR1, Laifer SA3, Strauss RA
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Are there other names for Trisomy 18?

How common is Trisomy 18?

Are there any other diseases that look a lot like Trisomy 18?

Are there other names for Trisomy 18?

Trisomy 18 is also referred to as Edwards syndrome. Trisomy 18 is often abbreviated to T18 and can be called a chromosome condition or chromosome abnormality. Trisomy 18, along with trisomy 13 and trisomy 21, are sometimes called autosomal trisomies. Autosomes are the chromosomes that are the same between males and females. 22 of the 23 pairs of chromosomes are autosomes, including chromosome 18. Therefore, trisomy 18 can be called an autosomal trisomy. The 'tri' in trisomy refers to three copies of the chromosome, instead of the typical 2 copies. Chromosomes are the structures present in every cell of our body and they are responsible for carrying our DNA or genetic material.

References
  • http://ghr.nlm.nih.gov/condition/trisomy-18
  • Curr Opin Pediatr. 2012 Dec;24(6):672-8. doi: 10.1097/MOP.0b013e3283595031.Perspectives on the care and management of infants with trisomy 18 and trisomy 13: striving for balance.Carey JC1
How common is Trisomy 18?

About 1 in every 6000 babies born alive has trisomy 18, although the condition occurs in approximately 1 in every 2500 pregnancies. Trisomy 18 occurs more often to babies born to older women, as compared to babies born to younger mothers. In other words, trisomy 18 is related to advancing maternal age. Babies with trisomy 18 frequently do not survive to birth and are stillborn or miscarry early in the pregnancy. Trisomy 18 is seen in all populations and is not related to ethnicity.

References
  • http://ghr.nlm.nih.gov/condition/trisomy-18
  • Am J Med Genet A. 2016 Apr;170(4):825-37. doi: 10.1002/ajmg.a.37495. Epub 2015 Dec 10.Survival of children with trisomy 13 and trisomy 18: A multi-state population-based study.Meyer RE1, Liu G2, Gilboa SM3, Ethen MK4, Aylsworth AS5, Powell CM5, Flood TJ6, Mai CT3, Wang Y7, Canfield MA4; National Birth Defects Prevention Network
Are there any other diseases that look a lot like Trisomy 18?

There are other diseases that look like trisomy 18. Babies with trisomy 13 may have symptoms similar to babies with trisomy 18. Genetic testing can distinguish between these two different genetic conditions. Trisomy 13 occurs when a person has three copies of trisomy 13 instead of 2. The common symptoms include a small head size(microcephaly), growth retardation or a small body size, difficulty with feeding and other abnormalities including kidney, brain and heart abnormalities.

Another disease similar to trisomy 18 is Bowen Hutterite syndrome. This condition is autosomal recessive which means an affected child inherits a genetic mutation for the condition from each of his/her parents. Microcephaly is usually present as well as growth delays, a small chin(micrognathia and rocker bottom feet.

References
  • http://rarediseases.org/rare-diseases/trisomy-18-syndrome/
  • Curr Opin Pediatr. 2012 Dec;24(6):672-8. doi: 10.1097/MOP.0b013e3283595031.Perspectives on the care and management of infants with trisomy 18 and trisomy 13: striving for balance.Carey JC1

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