1-in-5 pregnant women have NIPT

MoneyAnd Sequenom posted its first net profit last quarter. 

In a news story I featured in a previous post was this interesting statistic and quote:

“There’s been about 800,000 women in the past year in the U.S. who have had an NIPT,” Eric Topol, a professor of genomics at the Scripps Research Institute, told BuzzFeed News. That’s a lot — about 20% of the 4 million total babies born each year. “It’s the hottest molecular test ever in the history of medicine.”

(emphasis added). Given this surge in uptake of noninvasive prenatal screening, it should not be surprising the other headline that appeared in the same week:

Screen Shot 2015-03-15 at 7.14.41 PM

From the report:

Sequenom reported Q4 net earnings of $18.3 million, or $.14 per share, compared to a net loss of $18.9 million, or $.16 per share, for Q4 2013. In Q4 Sequenom recognized a $22.9 million gain related to the pooled patents agreement and settlement agreement with Illumina.

Illumina offers the competing NIPS test verifi.


Let’s do the math, then:

  • There are an estimated 8,000 pregnancies annually carrying a child with Down syndrome.
  • If just one-fifth, which equals 20%, of these pregnancies had NIPS, then that means 1,600 of the Down syndrome pregnancies had NIPS.
  • The most recent research estimates the termination rate following a prenatal diagnosis of Down syndrome as being 75%.
  • Therefore, if these women confirmed their NIPS result through diagnostic testing, then, 1,200 of the 8,000 total Down syndrome pregnancies ended in termination following a NIPS result.
  • This would equal 15% of all Down syndrome pregnancies ending in termination following a NIPS test like Sequenom’s MaterniT21 or Illumina’s verifi.

Actually, NIPS accounting for 15% of all Down syndrome pregnancies ending in selective abortion is likely a conservative estimate.

Half of all Down syndrome pregnancies are carried by mothers 35 and older. That age group is considered “high risk,” which are to be offered NIPS as a first-level screen according to professional guidelines. Instead of only 1,600 Down syndrome pregnancies undergoing NIPS, it could be as high as 4,000 (half of the total 8,000). Applying the termination rate of 75% to 4,000 equals 3,000, or almost 40% of all Down syndrome pregnancies ending in selective abortion following NIPS testing.

The actual percentage is likely somewhere between 40% and 15%. So, 15% is likely on the low-end of selective abortions for Down syndrome due to tests offered by Sequenom and Illumina.

What price ethics?

Whatever the number, both Sequenom and Illumina have refused to provide the Down syndrome resource recognized by professional guidelines with each screen-positive result.

And, Sequenom now has shown a profit thanks in part to $22 million attributable to efforts with Illumina.

Will Sequenom and Illumina now provide the professionally-recognized materials on Down syndrome with each screen-positive result?

Or is ethical practice just too costly?


  1. Its all about making money. They obviously dont care about the baby to be and I highly doubt they care about any of the Mothers who use their test regardless if they terminate or not. Sad people dont get to enjoy the love and life of our kids with their extra chromosome.

  2. BE Informed says:

    The issue is the DS orgs supplying the alternative rainbow and unicorns pamphlet that omits the REALITY of the result of taking this test–odds are high you will be facing a decision about termination (if over 35 especially) and termination is a HUGE TOLL ON ANY FAMILY.

    We need to pressure the DS orgs to stop providing the pamphlet that leads to perhaps up to 3,000 of our children’s peers with DS being terminated.

    A dose of reality BEFORE taking the test is needed.

  3. BE Informed says:

    Or provide both I don’t care but doctors should be providing the approved one. We can work that avenue more successfully than the DS orgs and testing companies. It’s just a wide group dispersed all over to get the attention spread. Start with medical associations especially obs

    • As covered at this post, by their own study, 1-in-4 medical professionals won’t hand out the unapproved one, so why spend time and resources developing a pamphlet that they know won’t be given out?

  4. If they consider themselves to be doing the patients a service by providing knowledge in the form of a positive or negative result, why not go the extra mile to give extra information if a positive result occurs? Otherwise, how concerned are they really about their “knowledge” or lack thereof?

    • I agree, but think it’s even an overstatement to suggest distributing the Lettercase book with each positive test is “the extra mile”; providing accurate information about the tested-for condition is what is recommended by the professional guidelines and Lettercase is the written resource identified by guidelines.

      • Makes sense. For the record, I had a “99% chance” with the Harmony. No information was given before the test, and I wasn’t even given the Lettercase book until a month after my results, and I had already begun my own research. I received my results over the phone, and when I requested a Level II ultrasound for more information about my baby’s health, the nurse who scheduled the appointment asked me, ” I have to ask: are you considering termination?” When I said, “No,” I found out that I could have got my ultrasound sooner had I been considering termination. Because I wasn’t, I had to wait to find out the condition of my baby’s heart etc. for nerve-wrecking month.

  5. It’s also sad that women no longer get to enjoy their pregnancies. Why is no one worrying about what all this usually unnecessary stress is doing to both the mother and her developing baby.
    BTW, Mark, “pregnancies” don’t carry babies, women who are pregnant carry babies in their womb. It is the woman who actually gets tested and women need to know that the genetic information obtained may actually apply to them or to a previous baby, not necessarily the one they are currently carrying.

  6. Jim Smith says:

    Hey Mark….Now let’s do the math on how many lives SQNM saved with the MUCH better False Positives vs. the old school way of doing screenings!!!!!
    You act like Mom’s are not going to get screens if MT21+ goes away….NOT!!!!

    • I recognize the nonmaleficent justifications for NIPS at this post, and am not critical of NIPS for reducing the number of women that may risk a miscarriage with diagnostic testing. That is not my critique, which is that the labs should provide accurate information about their tests and their test results. Not sure how that is “act[ing] like Mom’s [sic] are not going to get screens if MT21+ goes away”.

      • Jim Smith says:

        This is new to Sequenom’s website, have you seen this?


        Seems to me that this is what you are looking for.

        • Jim–thank you for sharing that–hadn’t seen it. Not all the information, and perhaps not entirely unbiased given the employer/employee relationship (not me saying this, what NSGC and certain insurers have noted), but still an improvement. But, it is a layer of “friction,” i.e. an extra step that patients are required to take. Better practice would be to provide them with the written information identified by ACMG for NIPS results AND inform the patient of this service, since both referral to genetic counseling and written educational materials are what are called for by professional guidelines (and simply good patient care).

          • Jim Smith says:

            If this is “friction”(extra step), then how much friction does the “old school” first trimester screen cause? One step(Simple blood draw) then talking to a real person about the results seems like it creates much less friction then having to schedule two appointments then trying to interpret a booklet on your own.

          • Not exactly the same thing. The friction of having to contact a genetic counselor separate from a doctors visit is different than being offered tests you would be offered during your standard 1T and 2T doctor visits.

          • Jim Smith says:

            Here is another example of how Sequenom understands the problem and is moving in the direction you want this week at ACMG….


            Note…This activity is supported by an educational grant from Sequenom Laboratories.

          • The phrasing “adequately consent patients for genetic tests” is troubling as it suggests a one-way street with informed consent, i.e. accepting testing, when in fact for it to truly be informed consent there must be the option of denying testing as well.

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