December 19, 2013

How is non-invasive prenatal testing getting on?

Almost two years ago, I wrote a series of posts on non-invasive prenatal testing (NIPT) of foetuses and the associated market. What has changed since?

In terms of technology, there hasn't been any big breakthrough. The principle behind NIPT has stayed the same: Some of the DNA in a pregnant woman's blood is of foetal origin. By sequencing that DNA, it is possible to reconstruct most of the genotype of the foetus, and to detect many severe genetic disorders from the 8th week of pregnancy onwards - earlier than with equivalent tests.

What has changed is the number of companies actually offering NIPT. At least seven companies worldwide currently sell NIPT, whilst several other are aiming for a 2014 market entry. The table below provides and overview.

Company (Test)
Conditions tested
Test price
Tests sold
Market entry
Ariosa (Harmony)
Trisomies 13, 18, 21, sex chromosome aneuploidies
150,000 until September 2013
May 2012
Beijing Berry Genomics (BambniTest)
Trisomies 13, 18, 21
Around $500

China, Worldwide
Trisomies 13, 18, 21

200,000 until October 2013

CellScape (Clarity)
In development

None yet

In development

None yet

LifeCodexx/ GATC (PraenaTest)
Trisomies 13, 16, 21
€1,150 ($1,580)
Year to August 2013: 6,000
August 2012
Natera (Panorama)
Trisomies 13, 18, 21, sex chromosome aneuploidies

December 2012
Sequenom (MaterniT21 Plus)
Trisomies 16, 21, 22, deletions causing various syndromes
$1,700 for uninsured patients
145,000 until September 2013
October 2011
Verinata/ Illumina (Verifi)
Trisomies 13, 18, 21, sex chromosome aneuploidies

March 2012

This list is incomplete in the sense that increasingly NIPT is also considered as an option by public health services. In the Netherlands, a NIPT trial will start in April 2014. In England, the National Health Service (NHS) is currently carrying out a study of NIPT called RAPID.

One aim of the NHS study is to compare the cost of NIPT to that of chorionic villus sampling (CVS). CVS is an invasive procedure that has traditionally been used for obtaining genetic material from the foetus. It involves taking a sample of the placenta and can lead to miscarriage. The advantage of CVS is that it gives relatively unambiguous results, whilst positive NIPT results still need to be confirmed by CVS or a similar procedure. Even so, the estimated total cost of using NIPT compared to CVS alone was 4% lower for one condition and 7% lower for the other condition. An important caveat of this estimate is that it only used NIPT for foetal sex determination in cases where this was disease relevant and not into detecting chromosomal abnormalities. 

The Dutch and English examples of public health service-provided NIPT points to a mistake that is easy to make when estimating the future market size for NIPT (and genetic diagnosis in general). A lot of health service providers may prefer to develop their own tests rather than rely on third party tests. This decreases the size of the market accessible to companies like Sequenom and Ariosa, especially in Europe.

Do you have any comments, or are there any NIPT companies or projects I haven't included? Please feel free to tell me in the comments section below.


  1. How much time will take to get the results?

  2. Good info. Thanks for sharing. Note that in december quarter 2014 Laboratoire Cerba launched their test in France. Both Lab Cerba and Life Codexx tests are licensed from Sequenom.

    Verifi did around 20-25k tests through end of 2013. Panorama did about 35k but both are estimates.

    Note that both BGI and Berry have stopped testing in country from China FDA decision to regulate NIPT. BGI is active in many other markets still.

  3. Hello MartyC,

    How did you arrive at these numbers? verifi was launched in March 2012 while Panorama was commercially launched in March 2013 only, also Verinata Health Inc. (developer of verifi) is managed by Illumina, Inc., a big house than Natera, Inc.

    Do you mean to say BGI Health and Berry Genomics will not process any sample from China?

    1. Hi,

      Thank you for you comments. I hadn't heard of Cerba, and the Verifi and Panorama figures are very useful. Like the previous comment, I was wondering whether you could share the source for those figures?

      My understanding of the situation with the Chinese companies is that the government had passed legislation banning all prenatal testing, but that this may have been due to a misunderstanding and that this decision is being revised.

  4. Hi Art
    Cerba is likely only now starting to ramp up. They did their own trials in France and just received approval at end of 2013. Lab is now processing per conversation with Sequenom. Likely will take some time to ramp so I suspect they will be more visible soon.

    Both Natera and Illumina have decided not to publicly disclose test ramps. My numbers come from 2 wall street analysts that have done surveys and published their estimates. Numbers are consistent with Sequenom estimates internally per conversations.

    The Natera test estimate also seems consistent with company statements referring to their studies. US analysts are expecting them to file for a public offering soon so we should have more solid numbers then.

    1. Hi MartyC,

      Thank you for the info. There are lots of interesting developments in the field. Just now I came across this piece in Science Translational Medicine on NIPT in developing countries, which came out today.

    2. This comment has been removed by the author.

  5. Market outlook article published:

  6. Interesting conference call tonight from Sequenom. One intriguing comment made by management was that MaterniT21 Plus with microdeletion reporting is being requested most often and the test will broaden again soon. They called this test a "virtual microarray" a couple of times during call and stated that it's pretty clear that the market is starting to bifurcate with the low risk being much more narrowly focused with the lower price point for the lower risk market.

    Sorry to see that the Ariosa IPO is now in question. They pulled all the terms in an amended (3rd) S-1. Waiting to see what they do next.

  7. Hope all is well in Cambridge. Lots of changes in NIPT landscape. Ariosa not yet able to go public, likely because the change in Labcorp arrangement is causing them to incur more cost to build their own sales team.

    Natera will loss Quest distribution once Sequenom releases their Future Testing Service in Q4. Likely their planned low cost NIPT on new platform. Natera has been hiring and appears close to the same employee count as Sequenom.

    Still very little being disclosed about Verifi traction.

    All players focused on international expansion where penetration is quite small. New entry in UK with Premaitha/Vialogy licensing tech from ISIS.

    Cellscape apparently winding down and trying to sell technology to others.

    Heard that 1 or 2 other start ups in US are making good progess.

    The pace of change is accelerating as everyone is seeing how large this opportunity will be with low risk included.

    1. Please can you elaborate on the premaitha licensing tech from ISIS please??? Thank you.

  8. Please can you elaborate on the premaitha licensing tech from ISIS please??? Thank you.