Mekel Akins Bergschneider and her husband were shocked and devastated at their 20-week anatomy scan when the doctors told them the news that the baby they were expecting likely had Down syndrome. Down syndrome, also known as Trisomy 21, is a genetic disorder that occurs when there is an error causing the presence of three, rather than two, copies of the 21 chromosome. Bergschneider was 21 years old at the time and “never considered [Down syndrome] a possibility,” she tells me in an interview with Romper. “I didn’t even get genetic testing done when I was able to because I didn’t consider myself at risk.”
This is not an unusual story. Many of the women I spoke with for this article were shocked by their child’s diagnosis with Down syndrome, since, because of their age, they didn’t consider themselves to be at risk for Down syndrome. The fact remains that, contrary to common belief, according to the Center for Disease Control and Prevention (CDC), 80 percent of infants born with Down syndrome are born to moms under the age of 35. Another common theme I came across in discussions with these parents? A startling lack of information and understanding at the point of diagnosis.