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Research Medical Center
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Chromosomal Abnormalities: Trisomy 13 and 18

Definition

Trisomy 13 and trisomy 18 are genetic disorders that cause serious birth defects and health problems.

Causes

Chromosomes carry genetic information. Infants born with trisomy 13 or 18 have three of the affected chromosome where there should only be two.

Risk Factors

A risk factor is something that increases your chance of developing a disease or condition. There are no known ways that parents can cause or prevent their child from being born with trisomy 13 or 18.

Symptoms

The symptoms of trisomy 13 and 18 vary. Most children will have some, but not all symptoms.

Symptoms of trisomy 13:

  • Apnea—prolonged periods when there is no breathing
  • Cleft lip —a vertical slit in the upper lip that is more common than in trisomy 18
  • Cleft palate —an abnormal opening in the roof of the mouth that is more common than in trisomy 18
  • Extra fingers or toes
  • Feeding difficulties
  • Feet with prominent heels
  • Hearing loss
  • Hernias —bulging of tissue or organs through a weak spot or opening in a muscle wall
  • Low-set ears, unusual in shape
  • Low birth weight
  • Purplish-red birthmarks
  • Scalp abnormalities
  • Seizures
  • Severe intellectual disability
  • Small eyes or other abnormalities of the eyes, including a single eye Small head with sloping forehead
  • Testes that fail to descend, in boys
Cleft Lip
Cleft lip
Copyright © Nucleus Medical Media, Inc.

Symptoms of trisomy 18:

  • Apnea—prolonged periods when there is no breathing
  • Arms and legs in a bent position
  • Cleft lip—a vertical slit in the upper lip
  • Cleft palate—an abnormal opening in the roof of the mouth
  • Clenched hands and overlapping fingers
  • Deformed hands and feet
  • Eye problems
  • Feeding problems
  • Hearing loss
  • Hernias—bulging of tissue or organs through a weak spot or opening in a muscle wall
  • Low birth weight
  • Low-set ears that may be deformed
  • Intellectual disability
  • Small head, with the back of the head prominent
  • Small mouth and jaw
  • Testes that fail to descend
  • Underdeveloped fingernails
  • Webbed neck

Diagnosis

Trisomy 13 and 18 can be diagnosed both before and after birth. Tests may include the following:

Before birth:

  • Images may be taken of your baby. This can be done with Ultrasound .
  • Bodily fluids may be tested. This can be done with:

After birth:

  • Your doctor will assess your baby's condition. This can be done with a physical exam.
  • Your doctor may order a chromosome analysis. This can be done with a blood sample.

Treatment

There is no specific treatment or cure for trisomy 13 or trisomy 18. Most babies born with trisomy 13 or 18 have severe physical problems. Treatment may focus on making the child comfortable, rather than prolonging life. Talk to your doctor about whether life-prolonging measures are appropriate for your child.

Children who survive infancy may need:

  • Surgery to correct physical problems
  • Speech therapy
  • Physical therapy
  • Other types of developmental therapy

Prevention

There are no known ways to prevent trisomy 13 or trisomy 18. After these disorders are diagnosed, parents can decide whether to continue or terminate the pregnancy. If you have concerns, talk to a genetic counselor when deciding to have children.

Revision Information

  • Reviewer: Kari Kassir, MD
  • Review Date: 05/2014 -
  • Update Date: 05/28/2014 -
  • National Organization for Rare Disorders

    http://www.rarediseases.org

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

    http://www.trisomy.org

  • Canadian Paediatric Society

    http://www.cps.ca

  • Health Canada

    http://www.hc-sc.gc.ca

  • American College of Obstetricians and Gynecologists. Screening for fetal chromosomal abnormalities. Practice Bulletin . 2007;77.

  • Trisomy 13. EBSCO DynaMed website. Available at: http://dynamed.ebscohost.com/about/about-us. Updated June 3, 2013. Accessed July 25, 2013.

  • Trisomy 13 syndrome. National Organization for Rare Disorders website. Available at: http://www.rarediseases.org/search/rdbdetail%5Fabstract.html?disname=Trisomy%2013%20Syndrome. Accessed July 25, 2013.

  • Trisomy 18. EBSCO DynaMed website. Available at: http://dynamed.ebscohost.com/about/about-us. Updated June 3, 2013. Accessed July 25, 2013.

  • Trisomy 18 and 13. Lucile Packard Children’s Hospital website. Available at: http://www.lpch.org/DiseaseHealthInfo/HealthLibrary/genetics/trisomy.html. Accessed July 25, 2013.

  • Trisomy 18 syndrome. National Organization for Rare Disorders website. Available at: http://www.rarediseases.org/search/rdbdetail%5Fabstract.html?disname=Trisomy%2018%20Syndrome. Accessed July 25, 2013.