Mom Learns Why 3 Of Her Pregnancies Tested Positive For Down Syndrome After Her Doctor Asks To Do Some Tests

Oct 31, 2023 by apost team

Ashley Zambelli was 23 when she discovered she had Down Syndrome (DS). In a YouTube video shared on her account, Zambelli explained that the process of making the discovery started in 2019 when she miscarried a pregnancy. The fetus tested positive for DS, but she didn’t think much of it. 

The TikTok content creator welcomed her first baby, daughter Lillian, in 2020 and discovered her baby had trisomy 21, or Down Syndrome. Her second child, Evelyn, was a typical baby, but the third one, Kathryn, also had the mutation. 

“Finding out I was pregnant with another baby that has trisomy 21 was definitely a shock to all of us,” Zambelli told People. “It’s not unheard of to conceive one to two since Down syndrome is, as far as we know, usually caused by a random failed separation of chromosomes during mitosis. But to have more than one or two? That’s when this might not be a ‘random’ mutation.”

When Zambelli’s OB/GYN noticed the trend of conceiving multiple babies with the specific genetic mutation, she asked the mom of three to consider getting a genetic test done to determine if any of her chromosomes were abnormal. 

Zambelli did several tests and eventually tested positive for Mosaic Down Syndrome or trisomy 21 mosaicism/mosaic trisomy 21 in February 2023. She was shocked but happy.  

Zambelli’s diagnosis shed light on the health and academic challenges she faced growing up that doctors couldn’t find reasons or solutions to. 

The Tiktoker didn’t show physical traits to show that she had Down Syndrome but had always dislocated her kneecaps from when she was 12 and had a jaw dysfunction. Moreover, her heartbeat is faster than usual, and her ears are situated lower on the side of her head. 

“People say, ‘You don’t look like you have it’. Even I was in a lot of disbelief,” she told The Independent UK. “A lot of people associate it as a facial disability. Having a mosaic condition means it is not always visible to the eye.”

Massachusetts General Hospital states that “Mosaic Down syndrome happens when an extra copy of chromosome 21 is present in some, but not all, of the body’s cells.”

Meanwhile, Stanford Children’s Hospital posits that since children born with the condition have a “mixture of two types of cells — some have the usual 46 chromosomes and some have 47,” babies born with mosaic Down Syndrome can have similar or few features to babies with full Down Syndrome. 

Since getting her diagnosis, Zambelli has received support from friends and family. 

“My friends and family were very surprised with my diagnosis...everyone was very happy for me and supportive,” she said. 

Zambelli has also been raising awareness about the condition and wants to encourage others to get genetic testing as a “tool to be prepared.”

“People need to not see genetic testing as a bad thing,” she told the Independent UK. 

She also shared her results on Instagram to convince naysayers who didn’t believe her. In the meantime, she shares lovely pictures of her family on Instagram and even made a reel to explain why she loves having babies. She also shared that she is eager to see what her daughters grow up to become. 

“We are also very excited to see the person Evelyn grows to become since there’s just something special about having siblings with Down syndrome,” she told People. 

Meanwhile, the mom of three is pregnant with a fourth baby, a boy who does not have trisomy 21. 

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What do you think of Ashley Zambelli’s story? Did you know about Mosaic Down Syndrome previously? Let us know — and be sure to pass this on to friends and family.