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Trisomy 18: What is This Genetic Disorder, Exactly?

— January 10, 2024

Both mothers and their unborn children struggle when Trisomy 18 is diagnosed.

Trisomy 18 is a chromosomal genetic disorder that is also commonly referred to as Edwards syndrome. It can cause abnormalities in certain bodily processes and have an impact on patients who are in the midst of pregnancy, specifically, as well as their unborn child. Trisomy 18 can cause the fetus to have heart issues, undeveloped organs, and other features that will never develop prior to the birth. Most impacted pregnancies result in the child dying within their first month of life, or even before they have a chance to enter the world. Only 5-10% of children born with this condition live past age 1, and most do so with severe intellectual disabilities. 

Receiving a diagnosis of Trisomy 18 can be devastating for expecting parents. The condition is a life limiting one that leads to severe physical and intellectual disabilities. Infants with Trisomy 18 often have heart defects, respiratory problems, and difficulty feeding, among other health issues, if they survive. And parents know they have a long road ahead with a pregnancy that is more likely than not to end in heartbreak with increased stress and strain on the mother’s body throughout the process. While Trisomy 18 occurs in only about 1 in 5,000 live born infants, it is, unfortunately, becoming more common in pregnancies and is, therefore, currently at the center of news headlines in the United States. 

Trisomy 18: What is This Genetic Disorder, Exactly?
Photo by Sarah Chai from Pexels

Kate Cox has been drawing national attention after she sought to terminate her pregnancy in Texas upon learning that her unborn child was impacted by the condition. The story gets complicated, however, as Texas has banned all abortions past 6 weeks. Cox, 20 weeks pregnant at the time she learned of the genetic disorder, wrote to the district court to appeal given the likelihood that her pregnancy would result in harm both to her and the baby, which, she contended, would likely not survive, anyway.

Having no luck so far with her case, Cox has found herself at numerous medical facilities trying to cope with the pain and struggle of her current pregnancy. She has major cramping and fluid leaks that staff are struggling to piece together and understand. The medical professionals at the facilities have also stated that Cox’s history put her at high risk for complications that could be life threatening. Her former C-sections could also mean her body is at higher risk for rupture and future fertility issues.  Cox, herself, has spoken out to news sources stating that she does not wish to put herself or her unborn child through this pain.

Despite Judge Maya Guerra Gamble granting a temporary restraining order against the state, granting Cox’s wish, the attorney general subsequently pushed back. AG Ken Paxton warned the doctors treating Cox that they could face penalties for their actions should they follow through with the patient’s request. 

It is clear there will continue to be conflict between doctors and the legal system in cases such as this one, and there are many risks on the table for patients, unborn children, and now medical professionals when a mother receives news of Trisomy 18. Unfortunately, there seems to be no good solution for how to move forward. Hopefully, in time, science will develop ways to combat against the genetic disorder so would-be parents won’t have to continue to struggle.


What is trisomy 18? Why the fatal genetic disorder is in the news — and what it’s like to get the diagnosis

Medline Plus: Trisomy 18

Edwards Syndrome

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