At the age of 23, a mom has discovered a condition she's lived with her entire life without realizing, and the reason why she conceived three babies with Down Syndrome.
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 stay-at-home mom explained to Newsweek that she found out at 14 weeks pregnant that her third daughter, Katherine, had Trisomy 21, and it was "pretty rare to conceive three babies with Down Syndrome."
She continued: "I have had seven pregnancies, four of which were miscarriages. One of my miscarriages was a son with Trisomy 21. We found out our first-born, Lillian, had Trisomy 21 while pregnant with her. Then fast forward to our third daughter, who we found out also had Trisomy 21 while 14 weeks pregnant."
Zambelli was referred for genetic testing and a buccal smear test of a sample from her cheek led to a diagnosis of Mosaic Down Syndrome, as some of her cells had the usual 46 chromosomes and others had 47.
Understanding Mosaic Down Syndrome
What exactly is Mosaic Down Syndrome? Most babies are born with 46 chromosomes; however, babies with Down Syndrome have an extra copy of chromosome 21. This condition is referred to as Trisomy 21 due to the presence of the additional chromosome.
The Centers for Disease Control and Prevention (CDC) estimates that 95 percent of individuals with Down Syndrome have Trisomy 21, while there are two other less common types. Translocation Down Syndrome occurs in approximately three percent of cases, where an extra part of chromosome 21 is attached to another chromosome, while Mosaic Down Syndrome impacts about two percent of those with Down Syndrome.
In cases of Mosaic Down Syndrome, some cells contain three copies of chromosome 21, while others have the standard two. This variation can lead to a milder expression of Down Syndrome characteristics, as some cells maintain the typical number of chromosomes. Common signs and symptoms include a lower IQ, small ears, a shorter stature, a flatter face, hearing loss, heart defects, sleep apnea, and visual impairments.
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