Symptoms
Trisomy 18 severely affects all organ systems of the body. Symptoms may
include:
- Nervous system and brain - mental retardation and delayed development (100% of individuals), high muscle tone, seizures, and physical malformations such as brain defects
- Head and face - small head (microcephaly), small eyes, wide-set eyes, epicanthal folds, small lower jaw
- Heart - congenital heart defects (90% of individuals) such as ventricular septal defect and valve defects
- Bones - severe growth retardation, clenched hands with 2nd and 5th fingers on top of the others, and other defects of the hands and feet
- Malformations of the digestive tract, the urinary tract, and genitals
Diagnosis
The physical appearance of the child at birth will point towards Trisomy
18. Before birth, ultrasound can detect abnormalities in the fetus. Genetic
testing by amniocentesis before birth or blood test after birth can confirm
the diagnosis. Ultrasounds of the heart and abdomen can detect
abnormalities, as can x-rays of the skeleton.
Treatment
Medical care for individuals with Trisomy 18 is supportive, and focuses
on providing nutrition, treating infections, and managing heart problems.
During the first months of life, infants with Trisomy 18 require skilled
medical care. Due to the complex medical problems, including heart defects
and overwhelming infections, infants have a 5% chance of surviving to
age 1 year. Advances in medical care over time will, in the future, help more infants with Trisomy 18 live into childhood and beyond.
Information for this article was taken from:
Chen, H, (2004). Trisomy 18. eMedicine, accessed at
http://www.emedicine.com/ped/topic652.htm
