TRISOMY 18

By Susana Campos

WHO IS MOST LIKELY TO GET DISORDER

It is equally distributed throughout all people Babies are usually the ones diagnosed with it

COMMON NAMES:

∙T18 (for short)

∙Trisomy E

∙Trisomy 18 is also known as Edward’s Syndrome

∙It is named after John H. Edwards, who first described the syndrome in 1960

TYPE OF DISORDER:

Type of disorder: chromosomal Fatal disorder Lowers life expectancy Nondisjunction Disorder is caused by an extra pair of 18th

chromosome Not dominant or recessive because it is

caused by an extra 18th chromosome pair The occurrence of the syndrome is estimated

as one in 3,000 live births

CHROMOSOME GRAPHIC

SYMPTOMS OF THE DISORDER

Mental retardation Delayed growth development(hands, mouth,

etc) Physical malformations such as, odd shaped

head and ears. Heart-congenital heart defects (90% of

individuals) Clenched hands Crossed legs Malformation of digestive tract. Such as, the

intestines.

DIAGNOSTIC TESTING Two types of testing: screening and diagnostic. Screening tests such as a Level 2 Ultrasound indicate a risk, or

likelihood that Trisomy 18 is present. These tests take the results of everyone who has had the same testing, and they compare your results with that group. Then they use statistics to identify the odds that it is present in your child, based upon the number of times others with the same test results have had children with Trisomy 18 in the past.

Diagnostic tests (karyotype) check actual cells and can determine if Trisomy 18 is actually present. This is a diagnosis, since the condition has actually been found in the cells.

PROGNOSIS The survival rate is very low. Trisomy 18 is considered fatal because most

babies die before they are born. Of live born infants, only 50% live up to 2

months, and only 5-10% will survive their first year of life. Major causes of death include apnea and heart abnormalities.

TREATMENT The disorder is fatal, and there isn’t any long

term treatments.

Support Groups

Trisomy 18 Foundation

Prenatal Partners for Life

GENETIC COUNSELING:

If the parents were carriers of the disorder the chances of them having children with the disorder would be high.

2ND GRAPHIC

Baby born with trisomy 18.

INTERESTING FACTS:

Not many babies born with Trisomy 18 survive to grow a normal human life but a few lucky ones do

As they grow up they have to get routine follow-up checkups, such as:

Routine child care/anticipatory guidance

Cardiac evaluation

Eye evaluation

Hearing test

Infant/pre-school program early intervention

Ongoing Support

Routine ultrasound for Wilms tumor

Routine immunization

Referral for feeding clinic if appropriate

Scoliosis check

A GREAT STORYPeter is a beautiful boy born with full Trisomy 18. His family found out two days after his birth that he had this condition. Trisomy 18 was described to them as a fatal condition with rare survivors who only live a few weeks. Peter's parents wanted him treated like any other child.

Some difficulties arose because of this. Peter has had a P.D.A. ligation, a hernia repair, and a liver biopsy.

Peter's family cherishes each day they have with him. They are strongly supported with many prayers from family and friends. Many doctors and nurses have also given the family much support.

Peter has brought his family closer together and has inspired them in many ways. He has taught his siblings many lessons about life and perseverance. Peter is now 9 months old and he is a trisomy 18 survivor.

CREDITS1. _Trisomy 18 Foundation_ January 2011_

http://www.trisomy18.org/

2._Prenatal Partners for Life_Jan.2011_

http://www.prenatalpartnersforlife.org

3. _Trisomy 18 Genetics_2011

http://www.genetics.com.au/factsheet/fs30.asp