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“I worried constantly that any pain or cramp was because I was going to lose her.” As with traditional prenatal screens, medical guidelines advise that a positive NIPT result be confirmed with a definitive test like amniocentesis, which analyzes cells from the womb.

But because amnio has a very small risk of miscarriage, Acosta decided against taking the test.

NIPT also added genetic disorders called microdeletions, such as Di George or Wolf-Hirschhorn syndrome, which previously couldn’t be detected at all without an invasive test.

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“It was important for me to know ahead of the time of delivery so that I could prepare myself, my children and family,” she says.

Acosta decided to take advantage of non-invasive pregnancy testing, or NIPT, a relatively new prenatal screening method. But for this nurse with 14 years experience, NIPT proved to be a nerve-wracking experience, leaving her more confused and distraught than assured.

It wasn’t until after she gave birth last May that she found out her baby girl’s chromosomes were normal. It turns out false positives are common with these kinds of screens.

And yet companies are gearing up to offer even more of the tests, by expanding them to the millions of women in the US with low-risk pregnancies, a move they’ve announced in their annual reports and at investor meetings. Recently, Anthem Blue Cross Blue Shield said it will begin covering NIPT for low-risk pregnancies.

“Nothing’s ever been better.” (Some of Wapner’s research is supported by industry funding.) But starting in 2012, NIPT companies also began offering to detect chromosomal conditions trisomy 13 and trisomy 18, both of which cause severe birth defects and developmental disabilities.

Then, in 20 they added the ability to detect “sex chromosome aneuploidies”—conditions like Turner or Klinefelter syndrome that are caused by missing or duplicated sex chromosomes.But a calculation based on the pooled results of 37 published studies of NIPT indicate that the average PPV is only 21%. From posts she read online, and from a genetic counselor she contacted after her NIPT, Acosta found out that for an expecting mother her age, a positive Turner result is more likely to be wrong than right. “If I had to do it all over again, I would absolutely not choose to have any NIPTs done at all,” she says, at least not until the companies do more research and perfect the technology. One post about a false positive result on elicited more than 1550 comments, mostly from women angry that they weren’t warned about high NIPT false-positive rates.That means NIPT catches most pregnancies with trisomy-13, but it makes a lot of false predictions too. Women “are not saying, I don’t want the test,” says Mayo Clinic bioethicist Megan Allyse, Ph D, who is currently leading a study interviewing women who’ve had positive test results with NIPT.They worry that it’s being introduced in an ad hoc way, and that women aren’t getting sufficient genetic counseling to interpret the results.“There are significant benefits of NIPT, but the way it was introduced into current practice and use has been chaotic and outside how other technologies get introduced,” says Ronald Wapner, MD, director of reproductive genetics at Columbia University Medical Center.So while the data are still sparse, most published research finds the microdeletion and or sex chromosome aneuploidies (SCA) screens to be far less reliable than the Down syndrome screen.

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