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Denying Their Access To Accurate Prenatal Genetic Testing Worsens Younger Mothers’ Pregnancy Experience

Perhaps no other experience is as exciting or anxiety-provoking as pregnancy. It can be especially difficult for older mothers. They may worry about their higher risk of having a baby born with Down syndrome, the most common genetic condition, estimated by the Centers for Disease Control and Prevention to affect nearly 1 in 700 live births. A woman’s risk of conceiving a child with Down syndrome increases after age 35.

However, recent medical advances have improved older mothers’ experience. Since 2011, increasing numbers of older pregnant women have benefitted from receiving more accurate genetic information about their babies’ health. The women receive this information from non-invasive prenatal genetic tests, which offer much higher accuracy than older prenatal tests developed in the 1960s.

Newer genetic tests have significantly reduced the number of wrong test results. Greater accuracy significantly reduces the unnecessary anxiety associated with a false positive result and eliminates the need for risky follow-up diagnostic testing, which can result in a miscarriage. More accurate results give parents early information about their child’s genetic condition, so they have time to prepare emotionally as well as make medical plans with their healthcare provider.

Young Mothers Are Routinely Denied This Newer Prenatal Genetic Test

Unfortunately, younger mothers under the age of 35, with a presumably lower risk of having a genetically affected baby, are routinely denied these newer prenatal tests by leading insurance companies such as Aetna and UnitedHealthcare. It is estimated that each year in the US nearly four million pregnant women are automatically denied coverage for the newer “high-tech” genetic tests.

The irony is that this happens to many younger women working for companies such as Apple, Facebook, and Google that are regarded as the world’s high-tech leaders.

Too often, these women may be subjected to a less accurate, older test called maternal serum screening with a much higher risk of yielding an inaccurate test result.

A head-to-head landmark study published in the New England Journal of Medicine showed that the newer cell-free DNA test identified 100% of cases of Down syndrome, whereas the serum screening test missed more than 25% of cases. Furthermore, the cell-free DNA test had much fewer false positives compared to serum screening, which had approximately 28 false positives for every positive case identified.

A Wrong Result Can Result In Unimaginable Anxiety, Unnecessary Diagnostic Testing, And, Worst Of All, Miscarriage

The heavy emotional toll of an inaccurate test result can be excruciating. For example, Lisa (last name not included to protect privacy) went in for routine prenatal genetic testing to screen for Down, Edwards, and Patau syndromes. She was 24 at the time. Now, three years later, she still remembers her emotions vividly.

“When the genetic counselor called to tell me that my baby’s risk of having Down syndrome was high (1 in 250), I went blank and started to cry. I continued crying for three weeks, even after my doctor called to say, ‘Don’t worry – the baby’s fine. These tests are often wrong,’” remembers Lisa. Two weeks later, Lisa scheduled an amniocentesis and two weeks after that learned that her baby’s test result was normal. But the initial inaccurate test changed her entire experience. She remembers remaining anxious throughout the remainder of her pregnancy.

Even worse than leading to an unnecessary diagnostic procedure, such as amniocentesis, a false positive test can result in a catastrophic miscarriage. Mabel had an amniocentesis to confirm the positive test result from traditional prenatal screening. She was told that the possibility of miscarriage was extremely low, so she was shocked to find out three weeks later that her baby had died the day after her amniocentesis procedure. Later genetic testing showed that her baby did not have any abnormalities – test results came back negative. It is estimated that on any given day in the US approximately 250 women will have an unnecessary diagnostic test and one will miscarry a baby as a result of follow-up testing from a false positive result.

The Mistakes Of A Missed Diagnosis Last A Lifetime

While it is true that the risk for genetic abnormalities increases with the age of the mother, the National Down Syndrome Society estimates that 80% of babies with Down syndrome are born to women under 35. (That’s because they’re having the most babies.)

Suzanne was 25 when her baby Jonas was born with Down syndrome. She was in shock: “I had no idea prior to Jonas’ birth that he had Down syndrome. All the prenatal screening came back negative.” Her initial bonding with her new baby was also negatively impacted. “When the doctor put my baby on my chest, I knew something wasn’t right. I felt a disconnect. Not even five minutes after birth, the doctor told me that he suspected Down syndrome. I was devastated. I know nothing about this condition. How do I get past this shock? Why did the test give me a false negative? Why do I feel so hurt? Why wasn’t I overjoyed when he was born? When will I stop worrying about my baby?” remembers Suzanne. She eventually got over her shock, and Jonas is doing very well. However, her marriage suffered, she is divorced, and her plans to have more children are on hold. 

Research shows that parents who receive early, accurate information have lower anxiety and more positive attitudes toward pregnancy and a baby affected with Down syndrome. Affected families can also plan ahead to give birth in a tertiary hospital with access to comprehensive tests to evaluate the baby’s cardiac, hearing, thyroid, ophthalmologic, and hematologic health. It is estimated that 15% of babies with Down syndrome do not live beyond a year, so having access to the best medical care is critical. Besides planning for optimal healthcare to give their baby the very best start possible, families can also ensure they pick an insurance plan with good coverage for any medical challenges ahead.

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These stories illustrate the heavy emotional and medical toll of inaccurate test results on pregnant women, and underscore the need for more accurate, non-invasive prenatal testing for all women regardless of their age.