Next week, I travel to Phoenix to give a poster presentation at the 2013 Annual Meeting for the American College of Medical Genetics (ACMG). I receive a daily invitations in my inbox to visit the booth for one of the manufacturers for the new Non-Invasive Prenatal Testing (NIPT). But what does each test test for, and how much do they cost?
Fortunately, a helpful table was published recently. It compares the four currently-available NIPT tests. That table is reproduced above (click to enlarge) and its accompanying article can be accessed at this link. The table is well-timed.
Earlier this year, I presented at the South Atlantic Association of Obstetricians & Gynecologists. After my presentation, an attendee asked for this precise comparison, because he was confused about what test tested for what conditions. As you can see from reviewing the table, certain tests test for more genetic conditions than others, e.g. the tests from Sequenom and Verinata cover more conditions than Natera’s Panorama test (the newest test to hit the market) or Ariosa’s Harmony test. And, not surprisingly, the tests that test for more conditions also cost more, though Ariosa would be considered the clear bargain amongst the four tests based on cost alone.
This chart is helpful, generally, to know what tests cover what conditions and what they cost. It is also helpful specifically for those mothers who may have a family history of a sex chromosome condition, in which case choosing MaterniT21 Plus or Verifi would be advisable versus Panorama or Harmony.
At the same time, these new tests will also invite questions at the same time that they promise to provide answers:
- Well, based on the NIPT result, I know it is very unlikely my child has these tested-for chromosome conditions, but should I still have an amnio and micro-array testing to be rule out any other chromosomal condition?
- It seems certain that my child will have Down syndrome, but to know for sure a CVS is needed–do I want to risk a miscarriage to have that certainty?
- The MaterniT21/Panorama/Verifi/Harmony test came back positive–what does that mean and where can I find more information about the condition?
While these questions will persist, the table at least helps explain what each test does and costs. And that is helpful.
Update: Since NIPT launched two years ago, much as been learned about what it is testing for, the level of its accuracy, with the laboratories emphasizing it remains a screening test requiring diagnostic testing to confirm NIPT results. These lessons learned since NIPT’s launch are collected in this post here.
Share Your Story: Duke University is conducting a study. Your participation could improve the patient prenatal testing experience. You can participate by clicking on this link. More from the invitation:
If you or your partner recently received a prenatal diagnosis of Down syndrome (DS), you have an opportunity to share your story here. Kathryn B. Sheets, MS, CGC and Blythe G. Crissman, MS, CGC are genetic counselors at Duke University Medical Center in Durham, North Carolina who are conducting a study to better understand patients’ experiences with prenatal diagnosis and making decisions for the pregnancy. Participation will improve our knowledge and help us to provide appropriate information, resources, and support to individuals in similar situations. Sharing your journey could benefit other individuals or couples going through a similar experience in the future. Participation in this study involves completing an anonymous, web-based questionnaire”.
What questions do you have about the new NIPT tests?
According to the lab and literature, the Panorama test does test for X chromosone issues, i.e. Turner’s and Kleinfelter’s.
Thanks for the information. Current professional guidelines do not recognize NIPS as being reliable enough for these sex chromosome-based conditions as of this date.
Just a note to anxious parents looking for information on Natera- Do not use their service- their billing department is the worst there is! They bill an outrageous amount and when the time comes for a refund, they just disappear!
I am 41 years old and pregnant with my 4th baby. I recently had a nuchal translucency test and I had 1 in 17 chance for trisomy 13 and 18 in the blood test, the sonogram was good because everything was normal at 13 weeks. So the doctor asked me to do the Harmony test and it came back 5 days later with 94% risk of trisomy 18. My 16 week sonogram showed no trisomy markers at all. The brain, heart, kidneys , measurement of baby showed nothing abnormal and the baby’s hands were open, not fisted. I don’t know if I should trust these screening that they keep saying are not diagnostic!! I don’t understand why they do these tests if they aren’t diagnostic? Why are doctors putting moms under all this stress and anxiety and torture then tell them nothing is sure until you do an amnio!!! why not do the amnio in the first place and save the moms all this torture?! How reliable do you think these screening are?
Carmen–actually, the American College of Medical Genetics guidelines recommend beginning with the offering of diagnostic testing before offering screening; other ethical and patient survey articles have said the same for the very reason you express: it’s the only way to know for sure. As far as the reliability of tests like Harmony for Trisomy 18, the research supports their detection rates for Trisomy 18, but, at the same time, the research shares that often false positives are reported for Trisomy 18 for a variety of reasons, including confined placental mosaicism. For all the details you relay, it does sound as though you may have received a false positive since Trisomy 18 physical characteristics can be observed on ultrasound as the pregnancy progresses. I hope if you do choose to have an amnio that the procedure goes well and you receive the information you were seeking in the first place.
great post,
i will try to read all your post related to NIPD because i need to follow all advance in this technology and i did not found any sites or litterateurs that can give me the whole information about NIPD and all companies said it is 99% accurate and that tell the patients it mostly accurate and you have to go with this test. so for that reason could you please advice me where can i find all and accurate information about NIPT, and which sites are the most informative and i can see the previous experience by pregnant women with this test.