Being told that the baby you’re carrying may not have a chance at a normal, healthy, functioning life is a heartache that no parent ever wants to imagine. And, until placed in it, no one can honestly, truly, without a doubt say how we would respond in that sort of situation. For Zachary Diamond and Angie Nunes, the decision didn’t come easily, but now, as they look at their perfectly healthy six-month-old son, Solomon, they have no doubts that they made the right decision.
The struggle for Zachary and Angie started with a prenatal test, one that claimed to be “99 percent accurate in predicting chromosomal abnormalities.” They were encouraged to take the noninvasive test and learned from the results that their unborn baby had Trisomy 18, otherwise known as Edwards syndrome—a painful genetic condition that is almost always fatal.
They were told to prepare for the worst.
“If you Google Trisomy 18, your heart will just shatter with the prognosis,” Zachary told NBC News. “The prognosis is godless, just awful. Angie was crying on the sofa for hours on end.”
Angie, who suffers from muscular dystrophy, worried how they would ever care for a child with such severe disabilities. But then, after a 16-week ultrasound scan and a repeat test, doctors stated that Solomon would likely be born without the condition if they carried to term. That’s exactly what they chose to do, and they couldn’t be happier that they did.
Zachary and Angie aren’t the only ones that have suffered from false positives from these non-invasive genetic tests—tests that have been given to hundreds of thousands of pregnant women taking these prenatal tests since they hit the market in 2011.
Tests that provide false positives 50 percent or more of the time.
According to an investigation by the New England Center for Investigative Reporting, there are “likely hundreds” of women aborting fetuses based on the results of these tests. In fact, one company reported a 6.2 percent abortion rate based on screening results alone. This means that no alternate testing has been done, and with such a high failure rate, it is likely that an alarming percentage of those babies would have been born just as happy and healthy as little Solomon.
The problem is that these companies are aggressively marketing their screening tests to women without “fully informing” patients or doctors about the limitations, the investigative company says. And they are pushing these tests, competing for space inside of obstetrician offices, in an industry that is projected to be worth about $3.5 billion dollars by 2019.
“The competition is rabid and these companies are aggressively going to doctors’ offices and medical practices to push the test,” Beth Daley, who led the three-month investigation, told CBS News. “These companies might be technically right. But in the least, they are misleading, and at most, fairly deceptive.”
Daley says that these noninvasive prenatal tests, otherwise known as “cell-free DNA tests” are nothing more than screening tests of placental DNA found in the mother’s blood. This is truthfully disclosed to women, and many are eager to learn whether or not their fetus is healthy. Unfortunately, doctors are not always certain on how to interpret the odds of the test; before a diagnosis is made, more invasive testing such as an amniocentesis or chronic villus sampling should be done. Unfortunately, these additional tests are not generally available until the second trimester. And, because the recommendations from testing companies only state in the fine print that further testing should be done, there are some doctors and mothers that may miss this detail and choose to abort based on a test that may not be accurate.
Sequenom, one of the major testers, did confirm that the test is not a replacement for more invasive tests. And, although the spokesperson said that their test is “highly accurate,” they did add that “false positive and false negatives may occur, although in far fewer numbers with conventional screen tests” and that “a negative test result does not ensure an unaffected pregnancy.”
What’s more disturbing is that these tests—along with many others out there for everything from cancer to Lyme disease—are not regulated by the FDA. Although it was announced in July that they would begin to regulate such tests, Daley says “it’s going to be a big fight” and it could take years to take effect.
A fight that is evidenced by struggles experienced by women that have tried to find out more about the tests and how they work. Women like Belinda Boydston from Chandler, Arizona.
Belinda’s obstetrician had urged her to take the test after a 20-week ultrasound showed that her fetus had heart defects. Though these were later determined to be treatable, the test failed to pick up on any chromosomal abnormalities. When her son, Hunter, was born in January 2014, he was diagnosed with Trisomy 18.
Within four days, he died.
“It was a roller coaster ride,” Belinda, a graphic designer, told NBC News. “We went from the greatest high to the greatest low of our lives . . . We wouldn’t have terminated and we got four days with him, but I wish we had known.”
Like so many patients, all Belinda heard was the “99 percent accurate,” and so she never received any genetic counseling. Then, when she tried to call the testing company, they refused to speak directly with her.
“We never found out why it was wrong,” she said. “I don’t know if diagnostic or screening means anything to a normal person. They are so new, my ob/gyn didn’t even know about it. II would say skip any prenatal testing and go do an amniocentesis if you are concerned. They cause too much worry . . . Unless they are 100 accurate, they are worthless.”
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