Noninvasive Prenatal Screening in the News

QNatalFrom the News page: a new NIPS provider, and financial news about two others.

Quest enters NIPS market

Quest Diagnostics was once a partner lab for Natera’s Panorama, then Sequenom’s MaterniT21, and now it has developed its own test based in part on Sequenom’s technology.

The new test is called QNatal Advanced. Some fact checking from the Press Release:

  • “QNatal Advanced analyzes cell-free fetal DNA in circulating maternal blood” **ahem**no it doesn’t. It’s placental DNA, not fetal.
  • “The phrase ‘noninvasive prenatal screening’ coined by Quest Diagnostics reflects the seriousness with which we take our responsibility to ensure women have access to health insights that are appropriate, actionable and of the highest quality,” said Douglas S. Rabin, MD, medical director, women’s health, Quest Diagnostics. **cough** no Quest didn’t “coin” noninvasive prenatal screening–ACMG did (and had Quest read ACMG’s statement it would have also seen it’s placental DNA, not fetal).

That said, Quest should be commended as it is recommending that its new test be restricted to “high risk” patients and is emphasizing that its test is a screening test, not a diagnostic test.

Sequenom’s stock price drops 15% in one day

So says the report from GenomeWeb:

mixed first quarter financial results led to a sell-off of Sequenom shares, which were down 25 percent in May compared to April. The day after it announced its results, its stock price dropped 15 percent.

Natera issues IPO seeking $100 million

Interesting report (again from GenomeWeb):

  • Natera issued an IPO seeking $100 million
  • Natera had previously raise $55 million in private financing
  • Natera performed 180,000 Panorama tests in 2014 alone–that’s almost 500 tests every. single. day.

Comments

  1. I came across this article http://www.nchpeg.org/index.php?option=com_content&view=article&id=385&Itemid=256 so based on 180,000 tests from Panorama alone in 2014, would it be accurate to say that 360 parents got false positive results for T21? I have no background in research. I am just finding a higher amount of Panorama False Positives then the other tests. I did read they analyze SNP instead of chromosomes. I am still learning but making my way through all this information.

    • That’s one way to do it, by applying the false positive rate of 0.2% to 180,000 to get to 360. What is the basis for saying you’re finding a higher amount of Panorama false positives than the other tests?

      • I have found many posts online about personal experiences with NIPT false positive/false negative results. Some of them have shared which test gave the incorrect results. I have contacted many of them personally to get additional information. I joined a Down Syndrome group in facebook and a mom posted that her little one was born early and her NIPT was wrong. Her little one’s test after birth came back normal chromosomes. There are parents who are posting on baby center warning other people about the inaccuracy of these tests. I started saving these to share with my midwife hoping that my experience was not repeated with someone else. I was not given the correct information when I agreed to take the Panorama. I was told it was as accurate as amnio (Fetal DNA) without any risk. The results were not explained to me properly. All I was told was that my test came back and my little girl has Down Syndrome. I had to track down my test results and that is the first time I read “Screening” & “Risk”. Our little one is due July 15th with a high risk T21 Panorama. We declined amnio and are prepared either way but I wish I had been given more accurate information up front. I am following many more parents like myself that will wait until birth before they know for sure. From the best information that I have, Panorama has given the highest inaccurate results. Like I said, I have no experience in research or statistics. I am just a mom trying to understand how this is happening to so many people. I have had to find all this out on my own. I have seen so many doctors and only one mentioned NIPT was only a screening.

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