Alleging the accuracy and reliability of a non-invasive prenatal test offered by the San Carlos biotech company Natera was misrepresented, the mother of a 2-year-old girl with Down syndrome is hoping to hold companies creating these types of tests accountable, according to a lawsuit filed last month in San Mateo County Superior Court.

Though the company has maintained non-invasive prenatal testing, or NIPT, is the most effective screening option and has been validated by clinical studies, Nicole Stremlau is hoping more about the accuracy and reliability of Natera’s Panorama test will be disclosed after the test she was told would indicate whether her daughter would have Down syndrome proved inaccurate for her.

“I think there needs to be a public debate about this,” she said. “Society and others just need to be much more aware of what’s going on.”

Originally from New York and currently living abroad, Stremlau said she was encouraged to take the test by her doctor in the months leading up to her second child’s birth Jan. 23, 2017. Stremlau is being represented by Nina Shapirshteyn of the Alexander Law Group and Theo Emison of Emison Hullverson, LLP.

Stremlau said the Panorama test was not available to her during her first pregnancy, and looked to it to tell her whether her second child has genetic abnormalities such as Down syndrome. Using a blood sample containing genetic information from a woman’s placenta, Natera’s Panorama test is designed to screen for genetic abnormalities, identify a baby’s gender and can be done as early as nine weeks into a pregnancy without posing a risk of miscarriage, according to a brochure for the Panorama product.

Natera’s analysis of the first blood sample Stremlau sent to the company’s San Carlos laboratory showed no results and she said she was directed to send another sample. The Aug. 21, 2016, results of Stremlau’s second blood sample showed her fetus has the lowest possible risk — a chance of less than 1 in 10,000 — of Trisomy 21, the genetic anomaly also known as Down syndrome, according to the suit.

She said it wasn’t until she gave birth to her daughter months later that anyone had any idea her daughter had Down syndrome, leaving her family and doctors shocked. By failing to provide critical information about the health of her daughter, Stremlau said Natera robbed her family of the opportunity to make informed decisions. She said she loves her daughter an enormous amount, and finds talking about her experience with Panorama very challenging, but feels compelled to do so out of concern for other people who may be relying on the test’s results.

“It’s been really difficult to come to terms with,” she said. “We feel cheated and I feel like this test is oversold and misrepresented.”

A statement from Natera affirmed the test is not diagnostic and was never presented as 100 percent accurate.

“Non-invasive prenatal testing has proven accuracy as the most effective screening option. It is well-validated by numerous clinical studies and leading medical societies recommend all pregnant women be offered the test … Natera operates an ISO 13485-certified, CAP-accredited laboratory certified under the Clinical Laboratory Improvement Amendments (CLIA) in San Carlos, California,” according to the company statement.

Though Natera recommends those receiving positive results for genetic abnormalities confirm them with additional prenatal testing, there isn’t much information provided to patients about what can be done to prevent false negative results, said Shapirshteyn.

Shapirshteyn also wondered how results like Stremlau’s are factored into statistics Natera presents to its customers, noting her client’s fetal fraction, or the fraction of a mother’s blood from the fetus, on the first and second blood samples was 4.1 percent and 4.3 percent, respectively. She explained the percentage of fetal DNA in a mother’s blood can range from 1 percent to 30 percent and tests taken with higher fetal fraction are more likely to get accurate results.

With claims Panorama produces fewer false positive and false negative results than other NIPTs, Natera’s marketing materials for Panorama don’t offer a complete picture of the accuracy and reliability of test results to patients who are relying on them, noted Shapirshteyn. Stremlau added she was not aware of the significance of fetal fraction in the results and also wasn’t aware when she took it that the test hadn’t been regulated by the U.S. Food and Drug Administration, raising questions for her about how the statistics used in the company’s marketing materials are verified.

Both Stremlau and Shapirshteyn hoped the suit could spark a conversation on the type of information companies like Natera should provide to consumers who are deciding to invest in one of these tests.

“With this new technology, the regulations haven’t caught up and patients are not educated before the test or after the test about the limitations or the reliability of the tests,” said Shapirshteyn.

Though Shapirshteyn is hoping the lawsuit can help compensate Stremlau for the lifetime of care her child will need, she noted they are also hoping it can get Natera and other companies working in this space to understand the impact their products have on human beings. She added pregnant women are often at their most vulnerable state and would likely do anything to ensure the health of their children.

Despite the difficulties Stremlau has faced following her experience with the test, she said she has been motivated to speak up in the hopes it can bring about more regulation and oversight of Natera and other companies working in this space to ultimately make the experience of using NIPTs more transparent for consumers.

“I think one way that we can all benefit is if companies are more transparent about this,” she said. “If no one speaks up, then these companies aren’t held to account.”

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