Chromosomal Abnormalities: Trisomy 13 and 18 (Chromosome 13; Trisomy 13 Complete; Complete Trisomy 13 Syndrome; D Trisomy syndrome; Patau syndrome) ( Chromosome 18; Trisomy 18 Complete; Complete Trisomy 18 Syndrome; Edwards Syndrome; Trisomy E Syndrome)
Kelly de la Rocha Definition
Trisomy 13 and trisomy 18 are genetic disorders that cause serious birth defects and health problems.
Chromosomes carry genetic information. Infants born with trisomy 13 or 18 have 3 of the affected chromosome where there should only be 2.
Risk Factors TOP
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.
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
—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
intellectual disability Small eyes or other abnormalities of the eyes, including a single eye Small head with sloping forehead Testes that fail to descend
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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
Trisomy 13 and 18 can be diagnosed both before and after birth. Tests may include the following:
Images may be taken of your baby. This can be done with
Bodily fluids may be tested. This can be done with:
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 TOP
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 TOP
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.
NORD—National Organization for Rare Disorders
Support Organization for Trisomy 18, 13, and Related Disorders
http://www.trisomy.org CANADIAN RESOURCES:
Caring for Kids—Canadian Paediatric Society
The Society of Obstetricians and Gynaecologists of Canada
Practice Bulletin No. 163: screening for fetal aneuploidy. Obstet Gynecol. 2016;127(5):e123-e137.
Trisomy 13. EBSCO DynaMed Plus website. Available at:
http://www.dynamed.com/topics/dmp~AN~T115387/Trisomy-13. Updated March 17, 2017. Accessed April 7, 2017.
Trisomy 18. EBSCO DynaMed Plus website. Available at:
http://www.dynamed.com/topics/dmp~AN~T113839/Trisomy-18. Updated March 17, 2017. Accessed April 7, 2017.
Trisomy 18 and 13. Standford Children's Health website. Available at:
...(Click grey area to select URL) Accessed April 7, 2017.
Last reviewed April 2017 by
Kari Kassir, MD Last Updated: 5/20/2015