Ashley Zambelli was 28 weeks pregnant with her third daughter when she received the shock diagnosis.
Mom-of-three, Ashley Zambelli has experienced an inordinate amount of pain already, after suffering four miscarriages and finding out that two of her daughters have Down Syndrome. Zambelli, from Michigan, had no explanation for the miscarriages or why she conceived three babies with Down Syndrome, which is also referred to as Trisomy 21, one of which she miscarried.
The Centers for Disease Control and Prevention estimates that 95 percent of people with Down Syndrome have Trisomy 21, however there are two other types which occur less frequently. Translocation Down Syndrome occurs in around three percent of cases, occurring when an extra part of chromosome 21 is attached to another chromosome.
This combined image shows Ashley Zambelli with her partner and their two daughters, Lillian and Evelyn, left, and Zambelli with her third daughter, Katherine, right. Zambelli has suffered four miscarriages, which she couldn't explain before her diagnosis of of Mosaic Down Syndrome.Dr. Xiao-Fei Kong is an expert who has studied Down Syndrome extensively and now works at UT Southwestern Medical Center.
"Although the diagnosis of Mosaic Down Syndrome sounds scary, many people with this condition have fulfilling lives. Nevertheless, additional considerations may be required in their education, family planning and disease screening. I hope that we can foster increase social support for this group."Although Zambelli can now see the effects of the condition on her, she admits that she had no idea that she had Mosaic Down Syndrome until her diagnosis on February 17, 2023.
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