What is Trisomy 18?

Trisomy 18 is the second most common form of genetic disorder in humans. The statistics claim that between 1 in 2000 to 1 in 7000 embryos are Trisomy 18. It amazes us that we'd never heard of it before. The reason for that could be that many Trisomy 18 children don't live very long. Most Trisomy babies miscarry, are stillborn, or die in the process of being born.

Trisomy 18 babies have a combination of birth defects including severe mental retardation as well as health problems involving nearly every organ system in the body. The prognosis is very poor. 20-30% of babies born with Trisomy 18 die in the first month of life. 90% die by the age of one. Some 5-10% do manage to survive the first year of life. There are very few that survive to their teens - however they are severely mentally retarded...

Normally you can tell by looking at a Trisomy 18 child that they have the syndrome. We think Emily looks relatively normal and is adorable! Most T-18s are pixie-like. There are more than 100 abnormalities distinctive of this syndrome. Some of the more common ones are listed below.

 Low birth weight Prominent back part of head Narrow bifrontal diameter of face and head Low set, malformed ears, often posteriorly rotated and flattened (Emily's aren't severe. They are slightly low set with very small ear canals.) Short palpebral opening between the eyelids Abnormally small eyes Small mouth & small jaw Abnormally small head (Since she was a preemie, she naturally was small, but proportionately, she looks pretty normal, i.e. her head, mouth and eyes fit the size of her body.) Congenital heart defects: VSD, PDA, ASD (Emily had a heart murmur and a click on her initial cardiac exam. An echo revealed a moderate mid muscular VSD, a PDA, a PFO with left to right shunt, a bicuspid aortic valve and extra mitral chordee in LVOT without obstruction. The 4 PDAs were very small in size and most likely will close with age. She had no signs of congestive failure and never required any cardiac medications. Translation: her heart problems are very mild and shouldn't be much of a problem. She has some malformed parts but they all work and none leak! They wouldn't require surgery eve if she didn't have Trisomy. Compared to other Trisomy 18 hearts, her heart has been spared! Praise the Lord!) short sternumlimited hip abduction short, big toe that sticks up funny clenched hand with overlapping fingers folds of skin near eyes & droopy eyelids narrow nasal bridge narrow palate unusual growth of hair on forehead large soft spot short neck hypotonia followed by hypertonia (gets floppy then stiffens up) (Emily's was mild) small nails wide spaced nipples rocker bottom feet small or absent thumbs cleft lip/palate prominent clitoris feeble movements in utero severe developmental retardation failure to thrive poor suck leading to feeding difficulties seizures and water on the head hernias - umbilical, inguinal, diaphragmatic tracheoesophageal fistulas

In addition to the characteristics above, Emily had 3 extra skin tags by her right ear and one mole like skin tag on

her right cheek.