Jan 23, 2022

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In 2011, companies in the United States began offering pregnant women noninvasive prenatal testing for chromosomal abnormalities in a fetus, mainly to detect Down syndrome. The tests check for small pieces of missing chromosomes, called microdeletions, missing chromosomes, and extra chromosomes. These abnormalities cause various disabilities. 

The development was lauded and several companies entered the field, expanding the scope of the tests. The field became a thriving industry with more than one-third of pregnant women in America opting to undergo blood tests to screen for developmental problems. There is no government oversight of the testing.

A new study by the New York Times investigated the current state of five of the most common microdeletion tests. Some parents use NIPT tests in the first 10-14 weeks of pregnancy to find out their baby’s sex but the tests don’t accurately determine the gender identity and can also result in inaccurate warnings of abnormalities. The NYT investigation revealed that the tests offered by testing companies are incorrect from 80% to 94% of the time. 

The microdeletion test for DiGeorge syndrome, which can “cause heart defects and delayed language acquisition,” has an 81% chance a positive result is incorrect. For the disorder 1p36 deletion, which can “cause seizures, low muscle tone and intellectual disability,” there’s an 84% chance a positive result is wrong. There is an 80% chance that a positive result for Cri-du-chat syndrome, which can cause “difficult walking and delayed speech development,” is incorrect. For Wolf-Hirschhorn syndrome, which can cause “seizures, growth delays and intellectual disability,” a positive result is wrong 86% of the time.

A test for a very rare condition (1 in 20,000 births) called Prader-Willi and Angelman syndromes, which causes seizures and an inability to control food consumption, was wrong 94% of the time.

 A 2014 study found that as many as 6% of patients who had received a positive in their initial screening went ahead and had an abortion without first testing to confirm the result. Follow-up testing of the amniotic fluid or placental tissue risks suffering a miscarriage.

In interviews with 14 patients who received false positives, The New York Times found that 8 of them were never told that it was possible to get a false positive. Five of them “recalled that their doctor treated the test results as definitive.”

One of the women interviewed began trying to figure out how to abort her child following an adverse prenatal diagnosis.

“‘I couldn’t help but have termination on my mind,’ said Allison Mihalich, 33, whose screening incorrectly indicated her baby might have Turner syndrome,” The Times notes. Following the misdiagnosis, Mihalich hurriedly tried to arrange a follow-up test before the cutoff date for a legal abortion. 

According to the report, the testing for Turner syndrome is wrong 74% of the time.

One out of every two U.S. babies who test ‘positive’ for Down syndrome in prenatal screenings are aborted, yet the false positive rate is over 50% when screening pregnant women at low risk. 

A 2017 article in  The Daily Citizen reported that 67-85% of preborn babies diagnosed with Down syndrome are aborted in the United States. In the United Kingdom, the abortion rate for babies diagnosed with Down syndrome is 90%, 98% in Denmark, and 100% in Iceland.

Focus on the Family President Jim Daly tweeted a reply to The Times’ story.

“A major story in this weekend’s @NYTimes highlights the poor track record of prenatal testing,” Daly wrote. “Parents are aborting babies based on bad test results. When it comes to the sanctity of life, trust the Lord, not companies who are profiting from fear.”