So what is Trisomy 18? When I first heard these words I could not remember them five minutes later. This is just not something that we hear about commonly, even though it affects so many around us. This genetic defect, also known as Edward’s Syndrome, is a chromosomal defect that occurs during conception. It is caused by either the egg or the sperm not splitting properly, and creating an extra chromosome in the eighteenth pairing where there should only be two.
It sounds harmless enough, but it can have some very devastating impacts on the developing fetus. Some effects of this defect include mental retardation, clubbed limbs, severe heart defects, low birth weight, a large cystic mass at the back of the neck, and much more. The prognosis for babies with Edward’s Syndrome is extremely poor; 90% do not survive past their first year, 50% do not survive past the first day, and less than 10% are able to survive up to adolescence. Obstetricians offer first trimester screenings to expectant mothers to find if their baby is showing an indicator for this defect or any others. A woman under the age of 35 is highly unlikely to have positive results, and before the screening most women are given odds of 1 in 10,000 that their child will have a genetic defect. Below is a site for the Trisomy 18 foundation, a resource that has been very useful for me.
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