Prenatal tests misleading parents with false diagnoses

Prenatal screening tests with misleading results are prompting some parents to abort perfectly healthy babies, according to a new report. A three-month investigation of noninvasive prenatal tests, which check unborn babies for genetic disorders like Edwards syndrome or Down syndrome, found some parents are overconfident in the accuracy of the tests and have little awareness of the likelihood of false alarms.

The report from the New England Center for Investigative Reporting (NECIR) said noninvasive tests have grown in popularity in recent years, with an estimated 450,000 to 800,000 performed on women since 2011. They work by measuring fragments of cell-free DNA floating in the mother’s blood during pregnancy and can indicate gender and chromosomal abnormalities in the developing baby. They avoid the risk of miscarriage that comes with invasive prenatal tests like CVS or amniocentesis.

Companies selling the tests advertise them as accurate. The website for MaterniT21 Plus calls it “a test you can trust,” providing “highly accurate results” for disorders like Down syndrome, Edwards syndrome, or Patau syndrome. The California-based test maker, Sequenom, admits that “no test is perfect,” and says any positive test results should be followed up with “invasive prenatal diagnosis for confirmation of test results.”

But parents, and perhaps even doctors, may fail to see or understand the disclaimer. Stacie Chapman was three months pregnant when her doctor informed her over the phone that a MaterniT21 test showed her unborn baby had screened positive for Edwards syndrome, a genetic disorder that usually results in death in the first days or months after birth. The doctor said the test had a 99 percent detection rate. After hanging up, Chapman decided with her husband to seek an abortion.

But the doctor later called her back, suggested she wait, and recommended further tests to confirm the results. As it turned out, the baby did not have Edwards syndrome at all. Lincoln Samuel was born healthy, and is 1 year old today.

“He is so perfect,” Chapman told NECIR. “I almost terminated him.”

Prenatal testing has often been linked to abortion, since some doctors and parents-to-be use the test results to justify a decision to abort. Some pro-life parents, however, advocate the tests as a way of preparing to care for a child with a genetic condition.

But the new investigation suggests the tests could be increasing the number of abortions by misleading parents to believe their healthy, unborn baby has a genetic problem. According to one study, NECIR reported, the positive Edwards syndrome test result that Chapman received had a 36 percent chance of being incorrect, although Chapman’s original impression was that it was 99 percent accurate. (The MaterniT21 website advertises a 99 percent “sensitivity” and “specificity” rate.)

A study of another test called Panorama found positive results were correct only 83 percent of the time. But the NECIR investigation found that out of 356 women whose pregnancies tested as having a high risk for an abnormality, 22 chose to have an abortion without getting a more invasive diagnostic test, such as an amniocentesis, that could more accurately verify the Panorama results.

Stanford University has recorded at least three cases of women choosing abortions on the basis of screening test results that later turned out to be inaccurate, NECIR said.

Of course, it is the accurate results of prenatal tests, not the inaccurate ones, that lead to the most deaths: A 2012 study found that 67 to 85 percent of babies diagnosed with Down syndrome in the womb are ultimately aborted.

Some doctors recommend—even pressure—their pregnant patients to abort babies after prenatal tests indicate a problem. A British couple, Robyn and Adam Wilson, resisted their doctors’ strong suggestions to abort after blood tests and an ultrasound suggested their unborn baby had a serious chromosomal disorder, perhaps Down syndrome or Edwards syndrome. Later, their boy was born healthy.

“The doctors and nurses couldn’t believe it,” Robyn told MailOnline.. “They all call him ‘the legend baby.’”