Below are links to five (5) critical resources for those involved with prenatal testing for Down syndrome. Developers of prenatal testing have websites that discuss the characteristics of their tests, but practitioners and patients have said they need balanced and up-to-date information about Down syndrome when counseling about prenatal testing and when delivering or receiving a prenatal test result. These resources address the continuum of the prenatal testing experience. All of these are approved resources by the National Society of Genetic Counselors (NSGC) guidelines for delivering a Down syndrome diagnosis and the American College of Medical Genetics and Genomics (ACMG) states that the first two should be provided to patients:
- Lettercase.org: Lettercase’s featured resource is “Understanding a Down Syndrome Diagnosis.” It received input from representatives of NSGC, the American College of Obstetricians & Gynecologists (ACOG), the American College of Medical Genetics (ACMG), and the National Down Syndrome Society (NDSS) and the National Down Syndrome Congress (NDSC). It is available for free as a web app and copies are available for purchase with medical practitioners being able to receive one free complimentary copy.
- Brighter-tomorrows.org: This on-line resource was developed with funding from the CDC and is hosted by the University of Kentucky’s Center for Excellence for Developmental Disabilities. It has a free on-line training module for medical professionals on how to deliver a diagnosis according to the recognized best practices. The effectiveness of the training module has been recognized in three (3) separate peer-reviewed articles and can be accessed at Brighter-tomorrows.org.
- Downsyndromepregnancy.org: DSP for short is an on-line support resource for expectant mothers who have decided to continue their pregnancy after a prenatal test result. DSP provides a free, downloadable book, “Diagnosis to Delivery” that was written by mothers who received a prenatal diagnosis and has been reviewed by medical specialists. DSP maintains a blog with interactive comments on issues and questions expectant mothers may have. DSP also provides a helpful resource for family members, another free, downloadable booklet, “Your Loved One is Having a Baby with Down Syndrome.”
- National Down Syndrome Adoption Network: The National Down Syndrome Adoption Network (NDSAN) maintains a registry of hundreds of families from across the nation who wish to adopt a baby with Down syndrome. Adoption is rarely, if ever, discussed in counseling about the options following a prenatal test result, yet NDSAN makes it a very viable option. For those practitioners and expectant couples interested in learning more, NDSAN is available to provide non-directive support.
- Your local and national Down syndrome support organizations: Parents who have continued after a prenatal diagnosis have cite the value of being put in touch with a fellow parent of a child with Down syndrome to learn what a life with Down syndrome can be like. Similarly, expectant mothers receiving a prenatal diagnosis have appreciated having the option of contacting a family. The NSGC, the AAP, and ACOG each recognize that local and national Down syndrome support organizations can be very helpful. The National Down Syndrome Society and the National Down Syndrome Congress both feature lists of local Down syndrome groups, as does Down Syndrome Affiliates in Action, a trade association of local organizations.
The first three listed resources are available at the website for the National Center for Prenatal & Postnatal Down Syndrome Resources.
There are other resources which will be featured in posts on the blog, but these are the essentials.
Folletos y artículos son en Inglés y Español aqui y aqui.
I have been involved in some form or fashion with each of these resources. I am also a staff member with the National Center. The listing of the resources here should not cause any of this blog’s content to be attributed to any organization as the content solely reflects my views only.
If you know of a resource recognized by a professional medical organization, please tweet or DM me at @MarkWLeach.
The National Society for Genetic Counselors has a fact sheet about the basics of Down syndrome with a list of approved resources. You can find a genetic counselor near you via this link.
Hello,
I have been reading through your blog posts and they are so incredibly informative. I am so glad I came across them. One thing I haven’t seen you talk about are NIPT results that come back “borderline positive” vs a standard “positive”. I cannot seem to find much information about how this may change your PPV, as well as results for how often these borderline cases come back false positives or true positives. Any info you can share?
Background- 38yrs old, first pregnancy, NT and blood work have shown no indication of Trisomy 21, but NIPT test came back as borderline positive.
Thanks so much!
“Borderline positive” is a new one for me–I have not seen that reported. Based on your age, the online calculator would report a PPV of 88% and negative predictive value of 12%. However, those calculations are based off of a “positive” cell free screening report. If I had to guess, I would presume the “borderline” description means the results came back as “no-call” or unreportable. The current guidelines recommend that these sort of results still be treated as indicating a higher probability and, as with all screening tests, a diagnostic test should be performed to confirm before taking any irreversible steps to the pregnancy. In the end though, I would have your provider ask the lab for an explanation in writing of what “borderline positive” means and, if you feel comfortable sharing, I would be interested in what the lab says.
Hi Mark,
I’m 40 and had 20 week ultrasound markers of AV Canal defect (which is fixable with one surgery after birth), clenched fists, and a plexus cyst.
Maternit21 came back positive being abnormal for Trisomy 18 but not Down syndrome. The PPV ratio was 52% without the Ultrasound screenings which would raise that number considerably but they don’t know to what number.
I was told this was 99% true until yesterday when I inquired about the PPV from reading your website. There is a small chance the baby’s healthy and just needs heart surgery but we won’t know until he’s born. I asked my dr what he has seen in his experience and he said he doesn’t know, the babies are all terminated after these tests with Trisomy 18 so he couldn’t tell me. Your thoughts on this?
Thanks so much for helping educate the public on this very crucial subject matter. It’s really a tragic thing that many babies are being aborted based on false information being given to the parents. Thanks again for your help and reply to this.
Per my response to your earlier comment, based on your age and the MaterniT21 result, the online calculator linked in that comment computed a 69% chance the test was a true positive and a 31% chance it was a false positive. Per your comment here, it sounds like the odds are even lower for it being a true positive (52%) and higher that it is a false positive (48%). While the ultrasound markers may corroborate the screen test, current guidelines say that the MaterniT21-type test takes precedence over ultrasound findings. So while the odds are slightly more likely than not that the test is positive, it is still not an insignificant chance that the test is a false report. You may want to reach out to the Trisomy 18 Foundation to ask about what their experiences have been with ultrasound findings and a screen positive NIPS result. Here is their website.
Mark, thank you for your reply. Apologies, I didn’t know if I was successful with my first post due to low internet connection.
Hi Mark- I realized after reading another article by you- my test was Maternit21 GENOME. Does this differ in regards to PPV and outcome versus the standard Maternit21 test? Also, when looking at company brochure online for providers, the PPV of 52% for (21,18,13) was the same- is that’s coincidence?
I just met my OB and he’s certain the baby has it and wouldn’t entertain my explanation of the PPV of 52% given on my test for fullT18. Thanks again for your help.
I do not believe it would make a difference what “brand” or version of MaterniT21 was performed since MaterniT21 has always screened for T18. Rather than your OB simply being confident about the results, you may want to ask him to talk with Sequenom and ask for an explanation of your results.
Hi mark! I don’t know how old all these post are but I’ve tested “high risk” 1:28 for Down syndrome. I only did the NIPT test and refused to do further testing as in it will only worry me and won’t change the outcome of my pregnancy. My doctor recommended another blood test after that, that would be a little more accurate and even then he said If that came up positive then he would still recommend the amino. It just makes me wonder how accurate these test even are? I’m 30 years old first pregnancy. Ultra sounds look good minus arms and legs are growing a little far behind. My last ultra sound was at 20 weeks. 29 weeks now and will probably have one more ultra sound. I guess my question is what is my percentage rate of having a baby with ds verses not, being 1:28. I feel like that’s super high risk but my doctor said there’s a super small chance. I just feel so confused with this testing and wish I never got it.
I would ask to see the test results if you haven’t seen them, yourself. According to this on-line calculator for positive predictive value, i.e the odds that your test result is a true positive versus a false positive, given your age of 30, a screen positive NIPT result would have a 61% chance of being a true positive and a 39% chance of being a false negative. However, you state that your test reported a 1:28 chance. A 1:28 chance equates to only a 3.5% chance of being a true positive and a 96.5% chance of being a false positive. Your doctor is correct that it is a small chance if the 1:28 result is what your test result was.