About Mark

My name is Mark W. Leach. I am an attorney with a Master’s in Bioethics.

I have presented at international, national, regional, and local conferences for obstetricians, medical geneticists, genetic counselors, bioethicists, and Down syndrome support organizations. I have been published in professional journals, national and local newspapers, and on-line blogs. This blog is a continuation of my efforts to provide perspective and resources for informed decision making for those involved in the administration of prenatal testing for Down syndrome.

I serve in various volunteer capacities for several non-profit organizations devoted to providing education, support, and health care to individuals with Down syndrome and other intellectual and developmental disabilities. I am also a staff member with the National Center for Prenatal & Postnatal Down Syndrome Resources. All of the views expressed on this blog are entirely my own and should not be attributed to any organization with which I am associated.

I have two kids. My daughter is endowed with Down syndrome and my son is endowed with curly blond hair. We live in my hometown, Louisville, Kentucky.

In my spare time, I enjoy taking the family to watch our Triple-A baseball team, the Louisville Bats, handicapping the Kentucky Derby to various degrees of success depending on if Calvin Borel finishes in the money, catching live music at club-sized venues, and bourbon. I also try to buck the trend by not being an annoying UK basketball fan, but a fan nonetheless.

You can contact me via the comments on this blog and by following me on Twitter.


  1. smsteele says:

    This is a fantastic site. Thank you. I hope you don’t mind me borrowing your term ‘endowed with Down Syndrome’, it’s so apropos. One of the best friends I have in this world is endowed with Down Syndrome and so very much more!

  2. Hi Mark my daughter and soon in law who are 27, were told today that the child they are expecting has downs…this is the only information they received from this test result….trisomy 21. (Risk)1/870. (Test) 99/100. All other tests were fine….can you please help. She is making herself sick she is so upset…thanks

    • Anne–none of the tests report a risk score of 99/100, or more accurately, they shouldn’t. I would refer your daughter to the posts here and here and the posts linked within them for her to understand that receiving a screen-positive result still means she has a better than 50% chance that it is a false positive.

  3. Catherine says:

    Thank you for this site. I am currently going through this nightmare of being told I have a 99% chance of a baby with DS – the results given to me by phone with no PPV given…and no resources. I am scheduled for an NT and then a CVS next week. In the meantime, I’ve been scouring the internet for information. It seems there is a lot of conflicting information about the accuracy of these tests. For now, thank you for providing information that helps to clarify the issues.

    • Catherine–I’m glad this site has been helpful and will continue to be helpful depending on your further test results. I hope those go well and you receive better information going forward.

  4. I went for the harmony test at 10 weeks and 1 day I had received terrible news that I tested 99% that my baby girl that most likely has down syndrome, I have 2 beautiful healthy kids no history on my side or my husband side . However they told me to go to a specialist first thing was told to me let’s talk about termination! ! I was crying and felt scared he than told me iam gonna secdule you for cvs test mean while took a measurement sono of the baby everything came back perfect . Iam sick to my stomach I want to just hold my baby in august and never let her go what are the chances she is ok , I had all same test with my other 2 kids never had this harmony test with them I have it now at 37 and told my baby most definitely has down syndrome. I keep reading all different things I do t go till Thursday for the cvs, bit when I went for this harmony test my dr also had me on prodestone pills can that maybe have anything to do why I tested postive . Iam scared and so upset please I need some answers . Thank you so much

    • I’m sorry to hear about your experience of receiving inaccurate information about your Harmony results. Your physician is mistaking Harmony’s marketed sensitivity rating with your positive predictive value. Based on your age, your Harmony result should mean that you likely have around an 80% chance that your daughter has Down syndrome and a 20% chance that the Harmony result is a false positive. The National Society for Genetic Counselors has created a helpful fact sheet on testing like Harmony which you may want to review and provide to your doctor. It further sounds like you were not provided any of the recommended information to accompany a screen-positive result for Down syndrome. The recommended resource to provide mothers is Lettercase’s booklet, which you can access here. The lab that makes Harmony was provided 2,000 copies of the booklet and your doctor can order one for free. (You can also view it online, as well). There are more recommended resources for expectant mothers that can be found at the Prenatal Resources tab. I hope these are helpful to you.

  5. My wife took a cfdna test that tested positive for down syndrome. She then had an Amniocentesis which we got results of the FISH test (we’re still waiting on the full Amnio results) and the results are that the baby is normal. How common is this?

    After discussing with others, 2 ppl we know had the same result. One of them said they tested positive on the cfdna for all of their children and the amnio results were that the kids were fine, which was the case with the children.

    • There’s no way of knowing how often false positives occur since the labs either do not track this information or do not report it.

      • We received the results of the Amniocentesis and I’m even more confused. The results from that test are that 30 of the 34 cells in the sample tested positive for Turner Syndrome, 3 of the 34 cells were normal and 1 of the 34 cells had an extra Trisomy 21. What does this mean? The baby cannot have Turner syndrome as it is a boy (previous tests confirmed this and the doctor has confirmed this in the ultrasound as his privates can be seen).

        So to summarize our cfdna testing showed a slightly elevated level of Trisomy 21. The doctor described it as a slight elevation, but not elevated as much as they normally see with down syndrome. As a result of this we were directed to have an amnio. With the fluid from the amnio they ran a FISH test and a full amnio test. The FISH test results were that the baby is normal. Then we got the full amnio tests results today showing the abnormalities I described in the first paragraph. What is going on in these tests as the results are all over the place and the amnio results aren’t even a possibility (as in you can’t have Turner syndrome in a boy, and if you had these disorders they’d be present in all of the cells, not bits and pieces).

        Thank you for replying and I eagerly await your reply to this as well.

        • There is a form of aneuploidy where an extra chromosome is present in some but not all cells, which is referred to as mosaicism. However, with this being an amnio, this really is a difficult result to understand. I would ask to be counseled by a medical geneticist to interpret the results for you.

          • We did. They cannot. They say it could mean the baby is normal or it could mean that the baby has down syndrome and the Turner syndrome results baffle them. So after three tests we have no answers and are forced to live with anxiety. After our experiences, I’m very skeptical about the accuracy or benefit of testing.

          • I at least appreciate their honesty in admitting when they don’t know. I hope that going forward you receive compassionate care and have a healthy delivery.

  6. Mark, thank you so much for your blog. it has helped me understand prenatal testing for Down syndrome much better. I am giving a presentation on Down syndrome later this week which includes prenatal testing. I was wondering if I am able to use the graphics on your blog in my presentation, if I give your blog credit. Thank you.

    • Just a few graphics, not many.

      • For you, Eileen, you may use the graphics provided credit is given to the blog. (Any other readers who may wish to use any graphics will need to submit a similar individualized request). I’m glad you found the information here useful. Please share who you are presenting to and I’ll be curious to hear who it went.

        • Thank you very much, Mark. I am presenting at the National Right to Life convention. I do a workshop on Down syndrome in which I give an overview about Down syndrome in general, prenatal testing/abortion connection, research, legislation, life with a child of Ds, etc.

          • Regularly, well-meaning advocates will quote the outdated “90%” figure for abortions following prenatal diagnosis. You may find this post helpful on how while the rate is lower than 90%, the actual numbers of selective abortions for Down syndrome have never been higher.

          • Mark,
            Yes, I used to quote that statistc–it is the one that shocked me and drew me into the pro-life movement–and now I understand that it probably isn’t accurate for the U.S.. I mention this in my presentation and also mention the latest study that estimates the overall reduction in the number of Down syndrome births. I also understand how a lower abortion percentage can still mean more babies being aborted because of many more pregnant mothers being tested now and more unborn babies w/Ds being diagnosed). I actually wrote a commentary in our regional paper a few years ago just before the new tests were being implemented with my concern about this very scenario. Thank you for the link; I think I have it in my stack of resources I was reading to prepare for the talk. Again, thank you so much for your work.

  7. Hi Mark,

    I am 30 and 15 weeks with my first baby. After a perfect nuchal scan with a visualized nasal bone, my blood serums came back with a risk of 1/93 for downs. Because this number is above the first trimester cutoff of 1/50, my doctor does not believe I need a diagnostic or to speak with a genetic counselor but has instead offered me the Infiniti, which I’ve taken and am now awaiting the results. I am confused as to whether or not I actually tested as high risk, since he said my test was technically negative and why he’d be sounding alarms and yet not allowing me to go directly to a diagnostic. Thanks for your input.

    • I’m not sure why he advised you the way he did either. Your screen result would place you in the “high risk” category for purposes of being offered additional testing. However, professional guidelines all recognize the need for genetic counseling following a high risk result and for pre-test counseling before taking tests like Inifinit (which I presume is a cell free DNA screen result–here in the United States, “infiniti” is a luxury car brand).

      • Thanks, Mark. My apologies–I meant the verifi NIPT. My brain has been frazzled the past several days. I called back my doctor’s office and asked if I could be scheduled for a diagnostic and was told to wait for the NIPT results, and the nurse reiterated that my screen was technically negative but that they just want some added reassurance. This is so confusing! And it’s especially hard when no one can explain this algorithm for me. I know that I had high HCG twice the median and low PAPP-A, about half the median, which I guess is a classic pattern for DS. But I have so many questions and wish someone could answer them… As I imagine it is for most women my age, this entire thing came as a shock, especially 2 weeks after a beautiful nuchal scan that me over the moon about my pregnancy. I also am upset that I didn’t get the blood draw until the 12 week scan… from reading so much on it, it seems as though many women do the blood portion well before the scan so that they already have the results and therefore have the option of doing the CVS, which is too late now for me. I’d have to wait for an amnio now. Do you have any idea why the cut off would be 1/50 for the first trimester screening when I am apparently high-risk? How accurate are these predictions? Honestly, I think it’s 50/50. My baby either has down or doesn’t so I’m just incredibly confused by the lack of information they’ve provided me with.

        • I’ve never been clear on why the cut-offs are set at the ratios that they are. However, having accepted the verifi test, you may want to factor those results into whether to have an amnio, particularly if verifi comes back screen negative. As for CVS, professional guidelines recognize that CVS tests DNA from the same source as tests like verifi. While CVS is considered diagnostic, it does have a greater risk for delivering false positives than an amnio and it has a higher risk for miscarriage. See this post here which can share more information on tests like verifi and links to resources on Down syndrome.

          • Thanks, Mark. The NIPT came back today negative, or rather “no aneuploidy detected.” I suppose rightly so my doctor is not recommending a diagnostic at this time but they still want me to do the second trimester screening, which I think is more so for spina bifida in this case. Honestly, I think I’m done with all future screenings. It is a lot easier to manage the fear of the unknown with a baby in your arms. Thanks for all of the info.

          • I think you’re right as to why they want you to do the second trimester screening. In the case of spina bifida, it can sometimes be seen on ultrasound, depending on the kind and severity. I like your second to last line and is a truth that we experienced with our daughter.

  8. Mari Verdun Kennedy says:

    Hi Mark, I received a prenatal diagnosis while at Disney World 16 years ago. It was the triple screen fret with uncertainties. We did the amnio and yes it was positive. It was a scary time and we ended up having our son. He started high school this fall and is the most hilarious and joyful kid on the planet and a blessing to everyone who he meets. What we were so scared about has not come true. So just wanted to put something positive about the scary diagnosis and help newly diagnosed moms rest easier that Holland 😉 Is not be such a terrible place.

    • Thank you for sharing your experience. Ours has been similar. All the worries that I had when Juliet was first born not only haven’t happened, but so many good things that I never even expected have. Good luck to your son in high school–we’ll be there in 3 years.

  9. Hi Mark,

    I just turned 38 and I’m currently 14 weeks pregnant. Like all the other women I had a positive NT of 3.7mm and higher HCG in my blood at 2.9. I had a ratio of 1:3 for T-21 only, I couldn’t believe it. I kept very positive about it all and then I took the harmony test and unfortunately the results came back by phone call as high risk for T-21 only. At the 12 week ultrasound the baby looked perfect other than the NT, nasal bone present, HR good, and was a great size (I know 12 weeks is just to small to know) I am booked in to have the ammio next week to get the true 100% answer which I already know will be positive. They wanted to do a CVS yesterday but after much reading I canceled and re-booked for the ammio on my 15th week so that the test was from the free baby cells and not the placenta. With the first screening positive and now the harmony positive I know there is no hope for a false positive in my case. Sucks being so healthy, perfect weight, took an extra 1000 mg a day pill of folic acid before pregnant and while, and this still happens. Seems so unfair. I guess my age was against me on this one. I did do the calculator you posted and put my readings in and I think it said something like the harmony would have a 10% false positive rate. I’m not sure if that is still true for me that both my screenings came in positive. We always hold onto that last bit of hope till you know 100%. I have 2 beautiful healthy girls (twins) from an IVF pregnancy. Funny this pregnancy was 100% natural so I thought that was so cool. This sucks but I have my girls and I will move on.

    I will keep you posted!

    • I agree with you that the chance of your screen results being false positive are very low. With your screen results, you should have also received a copy or link to the Lettercase booklet Understanding a Down syndrome Diagnosis. While screens are not diagnoses, this booklet has been recommended by professional medical organizations to accompany cell free DNA results that are screen positive. You can view it for free on-line or your physician can request a hard copy at no cost. I understand the information you received from your screen results make it likely that your child has Down syndrome, I hope the information on Down syndrome will be helpful in understanding what a life can be like with that condition. BTW: I’m a twin myself–I hope your girls play more and fight less than my brother and I did.

      • I’m in Canada. Since I had my 12 week scan I have not even been to a doctor. I just went to get my harmony test. I literally mean I picked up the harmony package had a 10min class on how it works then left and went to the closest blood lab. The lab technician then asked me how long do these results take and that when I said 2 weeks, she then said good luck. Then I waited a week for those results. When the doctor called to give me the high risk results he booked me for the CVS which I changed. I have a 45min class to attend the morning of my amnio test regarding the amnio. Not sure if at the actual amnio appointment they will finally talk to me about anything. The doctor on the phone did ask if I will be terminating though. We don’t seem to have genetic doctors that you see in the states when you are screened positive.

        My twins fight, fight, and fight. They are beyond a handful. But I sure look at them these days as miracles and I’m so lucky to have such amazing little girls that I will raise and watch them grow up.

        • Thank you for sharing how prenatal testing is being administered in your province; the classes at least seem an improvement on how women in the United States are typically counseled, i.e. no class whatsoever.

  10. Hi Mark,
    At 41 y/o I was pregnant with my second child. I had the NPT (by Counsyl) at 10 wks which was negative. My OB reassured me that there was nothing to be worry about it and waited to order my first US until I was almost 20 wks. Then the appointment was finally on my 24wk. The US came back abnormal with high likelihood of T21. Had the ammonio which confirmed the diagnosis. Sadly we lost our precious one.
    My OB contacted Counsyl and was informed that the %of fetal DNA was too low, less than acceptable for the test to be accurate (less than 50%). However, this information was never shared with my OB nor with me. Here is my question, are you aware of anyone trying to make these companies accountable for fully disclosure of the test quality and its limitations? I am concerned with the popularity of these tests and false claims as “screening” wonders.

    • Yes, Maria, I am aware of some lawsuits having been brought for a false negative cfDNA screen being presented as a true negative. I am not aware, though, of your specific facts where the lab failed to report relevant information, which would be an even stronger claim for liability. However, unfortunately, in the eyes of the law, depending on what jurisdiction you’re in, the loss of a child with Down syndrome would not be viewed as compensable damages. So, another route would be to start with a complaint to Counsyl directly to see how they respond. Other routes would be a report to your state’s Attorney General’s division of consumer protection. And, probably, the best route, if serious about pursuing, would be to speak with an attorney.

  11. Hello Mark! I am going over my results from my Matera test! Your page has been comforting to me because it is saying my Panorama Risk score is >99/100
    What does this even mean. My doc did tell me 99% our daughter will have Down Syndrome.
    Is there a way you can help me interpret my test results better?

    • Your doctor is giving you horribly wrong advice and hopefully he or she will take the time to review the fact sheets at the links in this post which explains why your results are almost never 99%. Your actual chances are based off of your age, which you can enter into the calculator at the post to provide you with your positive predictive value (PPV).

  12. 30 year old healthy daughter and 31 year old healthy husband have a healthy 2.5 year old. 5 weeks ago at 13 week first trimester genetic screen, NT scan showed a reading of 4.0 and a subsequent indirect cfDNA maternal test indicated Trisomy 21. Miscarriage had occurred in month prior to conception. Today’s 18.5 week ultrasound ( nasal bones present) was normal except for a heart ventricle ” bright ” spot. Don’t want risk of amniocentesis to ascertain diagnosis. Don’t want to get our hopes up but what is your calculation that this baby has Downs Syndrome?

    • Based solely on the mother’s age and the cfDNA test result, the calculator linked at this post reports a 61% chance that the child has Down syndrome and a 39% chance that the test result is a false positive. That could be adjusted if the NT scan adjusted the mother’s chance for having a child with Down syndrome. The ultrasound findings are soft markers which the cfDNA test takes precedence over.

      • Thanks so much! So how would a NT reading of 4.0 be factored into the calculation? We were told that ANY elevation of the NT was all calculated the same, whether it was a 4 or an 8. I did read a medical article that indicated the risk was proportional to the NT measurement ( the higher the measurement, the higher the risk of the baby will have DS). Is that correct?

  13. I’m 25 years old, pregnant with my 2nd baby boy. Got all the testing down, for my age and what not I tested (1;1,500 for downs and 1;261 for trisomy 18/13) then went for the further testing to find out, they conflicted with everything I was testing high and when I got the genetic tests back they said I was high risk for downs went for the amniocentesis, and the ultrasound should everything was perfect and fine had the nasal bone and was to size and perfect. Got my pulmonary test from the amniocentesis and doctor said something about flags and having an extra chromosome, but said she has seen two times before the dna results come back fine. Wondering if you can further help me. Is there a chance my baby doesn’t have downs or is it a for sure now?!

    • It’s difficult for me to say based on what you share. The amniocentesis is considered diagnostic. If the amniocentesis full results (note, not just the FISH results) report Down syndrome, then that is considered diagnostic. If the amnio reports no Down syndrome, then that, too, is definitive.

  14. Mr. Leach – I am reading these comments and your replies and I just have to say how kind and generous you are, to be taking time to reply to these fearful mothers and give them accurate interpretations of their results. With nothing in this for you, except to satisfaction of helping another at a very vulnerable time. I’m also saddened to see how much the doctors are misadvising their patients on what these results mean. My sister is in medical school to go in to OB, and I look forward to sharing this with her so that she can help her patients with accurate information on what these results mean. In the meantime thankfully I have her for when mine come back 🙂

    • Very thoughtful of you to take the time to submit your comment. For every woman receiving the results, it is a unique situation for them. I try to respond accordingly. I wish you and your sister well and hope she’s stocking up on her sleep now before residency and then actual practice begins!

  15. Shmuel Ben Eliezer says:

    Hello Mark
    My wife is 41 in week 20 and we are considering doing a NIPT test. We contacted various providers and each one (Panorama, Maternity, Verifi, Harmony, Nifty) claim they are the best game in town. We are quite in the obscure on this. According to your experience which among the major 5 providers is more reliable and recommended.
    Thank you for the very interesting information on your web site

    Many thanks

    • One of the criticisms of the labs offering cell free DNA screening is that the only results reported for accuracy are from clinical trials, not from actual lab performance. So, there unfortunately is no way to determine which is the better screening test. That said, Harmony markets itself as being more accurate because it “targets” only the major trisomies, unlike the other labs which screen for many other conditions (for which they are not recognized by professional organizations). If your concern is about the major trisomies, perhaps that will inform your choice (Harmony is also the lowest-priced test).

  16. brittney christensen says:

    I am currently  year 12 student at Broughton Anglican Collage. I am undergoing my IRP (independent research task) and I was hoping you could help! My question is “Raising a child with special needs does not take a special family, it makes a family special” what are the implications on a family’s wellbeing raising a child with Down syndrome?

    One of my objectives is to find out the emotional impact this has on the siblings of the child with Down syndrome (as well as parents). I was hoping I could get in contact with someone to do a short interview (either via email, phone or in person – I am based in Campbelltown) and ask them a few questions? these would be questions surrounding my objective, how it effects the family emotionally, what is the best way mentally to overcome any mental barriers, etc.
    if I have missed any information that you want/need I am happy to give any information that you need. My CAFS (community and family studies) teacher is more then happy to write a letter stating what I am coming for if it is needed.

    I hope you can help but I understand if you can’t! thankyou for your time

    • Dr. Brian Skotko and his colleagues published research on the issue you’re addressing. You can find all of those studies linked at this post. As far as speaking to a family with a child with Down syndrome, I would recommend getting in touch with your local or national Down syndrome organization and they will link you up with a family. I hope this helps.


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