Speaking

I have been speaking regularly at conferences and meetings large and small for years now. I have been the featured speaker at board meetings, conference breakout sessions, moderated town halls, and as the keynote speaker for national and regional conferences. I have also helped plan conferences and reviewed the feedback forms on the speakers and about the entire conference. The success of a conference hinges on the quality of your speakers. I want your event to be a success for your organization and for your attendees.

If you would like to check my availability for your event or if you have questions, please contact me at mleach@downsyndromeprenataltesting.com.

Inviting me to speak

Here is what you can expect from me as your invited speaker:

  1. Prompt responses to your phone calls and e-mails.
  2. A phone call to better understand how I can meet your event’s and audience’s needs and expectations.
  3. Promotion of your event on this blog and via my social networks.
  4. A professional presentation tailored for your event with up-to-date information.
  5. If desired, attendance at your full-event to facilitate small group discussions, breakouts, and other needs you may have.
  6. A follow-up after the event to review whether I met your expectations.

About me

I have five years worth of post-graduate coursework and fifteen years worth of listening to other speakers at professional conferences, business meetings, and small group sharing sessions. When it has been my time at the microphone, I have approached each opportunity as a chance to engage the audience by sharing information that has practical relevance to their personal and professional lives.

I have presented at international, national, regional, and local conferences. Representative speaking engagements include:

  • Keynote speaker and breakout facilitator at the annual conference for Canadian Association for Community Living, Down Syndrome Association of Central Oklahoma, and Down Syndrome Association of Central Florida
  • Invited speaker for annual conference for the South Atlantic Association of Obstetricians & Gynecologists
  • Platform presenter at American College of Medical Genetics and World Down Syndrome Congress
  • Invited speaker for medical and bioethics lectures at hospitals and medical schools
  • Town-hall moderator for plenary session at Down Syndrome Affiliates in Action annual conferences
  • Breakout speaker at multiple National Down Syndrome Congress conferences

My presentations receive superior ratings from attendees with the two most common comments being, “So much information,” and “Wish there was more time for this topic.”

My most requested presentations

I present on the ethical, legal, and practical issues involved with prenatal testing for Down syndrome, training volunteers and staff for effective medical outreach, and fundraising strategies for non-profits. For each speaking engagement, I customize my presentations to fit the needs of the host organization.

T21 CellPrenatal Testing for Down Syndrome: Scientific advances have resulted in a rapidly-changing landscape for expectant mothers receiving prenatal care. In the past decade, the medical guidelines have changed from offering prenatal testing for Down syndrome to mothers 35 and older, to offering prenatal testing to all expectant mothers and in just 2013, medical professional societies issued position statements on how the newest form of prenatal testing–non-invasive prenatal screening–should be incorporated into clinical practice. This presentation covers these technologies, what each test result means, and analyzes the professional guidelines. This presentation has been given at medical conferences, hospitals, medical schools, and Down syndrome support organizations seeking to learn more about the state of prenatal testing.

check yes or noInformed Decision Making: Prenatal testing for Down syndrome is premised on respecting the expectant mother’s autonomy by giving her the opportunity to gain information upon which she may make reproductive decisions. This presentation covers the ethical concepts, the research on whether clinical practice is meeting prenatal testing’s ethical justifications, and shares the resources for achieving informed decision making. I have given this presentation at hospitals, medical schools, bioethic courses, and to Down syndrome support organizations and their conferences.

dna_500Ethics of Prenatal Testing for Down Syndrome: While prenatal testing is offered in more variations than ever before, the underlying ethical issues largely have remained the same–and largely have remained unaddressed in clinical practice. As ever the case, science seems to outpace our ability to ethically incorporate these advances. This presentation provides this historical overview of the ethical, legal, and social implications of prenatal testing for Down syndrome and is appropriate for medical, legal, bioethics, and Down syndrome conferences.

handshakeEffective Medical Outreach: Everyday throughout the United States, individuals are walking into the offices of medical providers pulling behind them roller bags containing marketing materials about their companies’ offerings of medical technologies. Prenatal testing for Down syndrome is no different. But, for the most part, there is not a product representative visiting those offices to provide the resources recognized by professional medical societies that should accompany prenatal testing for Down syndrome. This presentation has been given at national, regional, and local Down syndrome support organizations on how to develop a responsible medical outreach program so that the local medical community trusts the information provided and will refer patients to the local and national support organizations.

MoneyCapital Campaigns for Non-Profits: First as founder and chair of Down Syndrome of Louisville’s Development Committee and then as Board President, I was active in the capital campaign that began at $800,000 and grew to ultimately raise $4.2 million and expand from building on existing property, to buying and building a new facility, to expanding across the river and establishing not one but two campuses for lifelong learning for individuals with Down syndrome in the Greater Louisville area. This presentation covers these lessons learned and best practices to guide organizations to take the next step in their development.

Lincoln_MemorialFinding Political Common Ground: Prenatal testing is inexorably entwined with the political hot-button issue of abortion. However, beginning in 2005, efforts began to address the responsible administration of prenatal testing regardless of pro-choice or pro-life positions. This was exemplified by the two lead sponsors of a law passed in 2008 being pro-choice Senator Ted Kennedy (D-MA) and pro-life Senator Sam Brownback (R-KS). In recent months, similar efforts have experienced success at the state-level, with multiple pieces of legislation being entered and passed by state governments representing all political leanings. This presentation provides a survey of these pieces of legislation and provides a roadmap for introducing legislation that will succeed no matter the political landscape and why other policy measures make enacting balancing legislation all the more urgent.

Each of these presentations can be (and has been) presented on its own or in conjunction with one of the others. For instance, I have done a three-hour presentation covering prenatal testing for Down syndrome, its ethics, and effective medical outreach. On the other hand, I have presented for 50 minutes on relevant pieces of legislation, and even as short as 15 minutes at medical conferences on informed decision making. Whatever your event’s needs, I can design a presentation that fits the time available as well as serve as a small group facilitator on the presented topic or breakout speaker on a separate subject.

The Next Step

I appreciate you considering me for your event and I hope we will have the chance to work together. You can check my availability by contacting me at mleach@downsyndromeprenataltesting.com. I will follow up with you promptly.

Comments

  1. David E. Smith says

    I have a question which I hope you will be gracious enough to answer: are there important differences between cffDNA testing and testing of DNA from fetal cells recovered from maternal blood?

    I thank you in advance for your answer.

    • David–my understanding is that the difference between cell free DNA and fetal cells in the maternal blood is that cell free DNA is actually from cells from the developing placenta versus actual fetal cells. You can find out more on cell free DNA at my post “When cell free fetal DNA isn’t.” The difference is in accuracy, with tests of fetal cells not having the false positives and false negatives of cell free DNA. The other difference is cost, since it is much more expensive to identify fetal cells versus cell free DNA.

  2. Hi Mark , I’m 38 yr old and just had the cfdna test and it came back that was detected on massively, what do you think , I’m devastated , I’ve been trying to get as much information that I can’t get but nothing is making me feel better

  3. Mark, I took the panaroma screening. It came back 1:2 high risk for trisomy 13. PPV 38%. I am 38 years old. My ultrasound was great at 15 weeks, normal heartrate, normal growth, everything looked good! Would you risk an amnio? I have one scheduled this Friday, week 16. My husband wants a diagnostic answer. MFM doctor recommended based on screening. I’m nervous about miscarriage from amnio. Thanks, Elle

    • Based on your panorama result, the odds are that it is more likely a false positive than a true positive, i.e. it is more likely T13 is not present than that it is present. I would want to know the specifics about your practitioner and the facility where the procedure is being performed. It does not matter what the average rate is quoted in studies; all that matters is your practitioner’s and facility’s level of experience with amnio and rate of loss. I would then consider what you would do if the amnio comes back positive. Practice guidelines recommend getting a diagnosis prior to any decision about termination. Also, a positive diagnosis may allow you to plan for the birth and arrange any support needed if in fact T13 is diagnosed. Then weigh the value of having that knowledge versus the risk of miscarriage.

      • Thanks so much for your response! My fish results came back yesterday and I’m having a healthy baby. I tried to convince my husband that the false positive rates are high for trisomy 13 but he really wanted a diagnostic answer, I was surprised that the MFM doctor recommended the amnio as did a genetic counselor we saw, a pushy genetic counselor to be frank-i was surprised because everything looked good but they mentioned mosaic cases. It swayed my husband into waning the amnio. I intend to write to some journals and newspapers that specifically mentioned high false positives for trisomy 13 and describe my experience. I also called Natera labs and told them it was a false positive. Until there are less false positives I won’t recommend the screening to anyone.

        • Mark, Can I ask what made you think the results would be a false positive? I was 99.9% sure it was as well after doing 3 weeks of research about NIPT. Very low PPV is just not a good screening in my opinion. I’m wondering what made it a false positive, the person I spoke to at Natera labs didn’t think I should have the placenta tested after birth, saying cells die off and they only test a small portion. Only one ob/gyn said not to do the amnio, 4 others recommend it plus the pushy genetic counselor. The one that I agreed with I’ve been going to for years but because he isn’t an MFM he had sent me out to a second MFM doctor. I learned once you are “high risk” an ob/gyn won’t see you. Thanks again for responding and having such great information and insight to all of this.

          • Just the low PPV is why I thought the odds were more likely it was a false positive. As to the root cause the false positive, it could be a number of things: confined placental mosaicism of T13, sample error (ie they tested the wrong sample), lab error (the lab performed the test improperly), just to name a few.

        • I’m sorry to hear of the non-non-directive counseling you received, but I’m glad to hear the procedure went well and without any complications.

  4. Jena Degre says

    Mark

    My son and daughter in law are expecting their second child she is 13 weeks
    they had the test done and was told she tested positive 94% for T21 and they said the ultrasound showed 3.1 mm fluid in babies neck. Does this mean the baby is going to be born with down syndrome as indicated by the doctor?

    • It depends on what the test is and what age your daughter-in-law is. For her to have a 94% chance if the calculation is based just on her age and the test result, she would need to be over 40. If she’s any younger than that, then she has a higher chance for a false positive. You can find out more on how to interpret these tests at this post with links to an online calculator and resources for expectant parents about Down syndrome.

      • Jena Degre says

        she is 36

        • Jena Degre says

          she had the PPV test done.

          • All screening tests have a PPV, but I expect you mean the cell free DNA screens like MaterniT21 or Harmony. Based just on her age, she has a 82% chance that the test is a true positive and a 18% chance it is a false positive. They may be basing the 94% chance by factoring in the ultrasound, but that by itself is not recognized as an accurate screen for Down syndrome.

  5. Hello Mark. I’m 29 y/o. I went to my screening test when I was 12 weeks and my NT came back 3.3 mm after what I had my panorama test done with the 9/10 risk for T21. I don’t want to do an Amnio because of there are chances for miscarriage. I just want to ask you – can it be a false positive? And if yes what could be the thing in my blood that they think that it’s that high as 9/10 risk?

    • Given your age, this online calculator calculates your odds that your test is a true positive as only 58% with a 42% chance that it is a false positive. However, if in fact your Panorama report shows the positive predictive value as 90%, i.e. 90% chance of being a true positive and 10% chance of being a false positive, then I would have your practitioner ask Natera, the maker of Panorama, to explain the results. Incidences of false positives can happen for a variety of reasons: lab error, technician error, or, because the cell free DNA tested comes from the placenta and not the fetus, then only the placenta had some cells with Trisomy 21, but not the fetus.

      • Thank you so much Mark for your response. Really appreciate that. Can I just ask – 1) what is the difference between placenta and fetus dna? 2) How placenta can have t21 and fetus not? 3) so the panorama test has only dna of placenta and not the fetus? Thank you again.

        • (1) For the most part, the DNA of the placenta and the fetus are the same, as both grow out of the same fertilized egg–this is why a CVS, which samples placental cells is considered a diagnostic test. (2 & 3) However, in the case of cell free DNA, it comes from just the placenta, and specifically from the placental cells attached to the uterus not the side of the placenta out of which the fetus grows (or at least this is how one physician explained it to me). Because the placenta is the only temporary organ humans have, it has some genetic variation, which can include extra copies of chromosomes or variants of the chromosomes and these variations may not be shared with the fetus. This is why cell free DNA screening is just that, screening, not diagnostic, because the DNA is not from the fetus, but from the placenta. More on this at this post.

          • Hello Mark. It’s julia again. I have 9/10 risk for DS. I’m 29 y/o. But my ultrasound at 30 weeks shows that everything is fine with the baby no soft markers and she’s even bigger than supposed to be. Nasal bone is present. Do you have any ideas if my risk is increasing?
            Thank you

          • According to the most current guidelines, a cell free DNA screen takes precedence over all other indicators for Down syndrome, including soft markers on ultrasound. Per my previous comment, your age would put your PPV at a much lower value than 90% and I wonder if the lab confirmed that the PPV was specific to you or was their general PPV that they report?

  6. Thank you Mark. I honestly didn’t find out with lab about the results they gave me. Also I didn’t do Amnio because of the risk of miscarriage.
    But I wanted to ask you – I’ve read that Down syndrome babies don’t have a nasal bone or it’s too small. Is that true? My ultrasound shows that everything is fine and she has a nasal bone. Also I’ve read that if the baby has a nasal bone than it means that baby is normal. I don’t know how true is that.

    • Nasal bone is referred to as a “soft marker”–meaning, the absence of a nasal bone has some association with the chance for Down syndrome, but it’s not definitive, hence it being characterized as “soft.” While many individuals with Down syndrome may have a small nasal bone, that is not always the case. Since you are continuing your pregnancy after receiving a test result suggestive of Down syndrome, I would recommend the resource at this link. It is a book written by moms for expectant moms and deals with the specific issues of continuing a pregnancy with a higher chance for Down syndrome. It is available for free as a downloadable .pdf or you can purchase a hard copy to be sent to you. I hope you find it helpful–as a reviewer of the book, it definitely gave me insight into some of the unique concerns experienced while waiting for the delivery.

      • Hello Mark. I had a stillborn after all. I had 9/10 chances for DS. She had Down syndrome and now I’m wondering and scared to get pregnant again because I think the next baby would have the same. My chances now 1:100 even though I’m 30.
        How many cases do you know with kids are born with Down syndrome after already have DS baby? I mean 2 babies with DS in a family. Thank you.

        • My condolences on your loss. The Center I’m affiliated with has a written resource available as a .pdf or for purchase on coping with loss that you may find helpful. It can be accessed at this link. Regarding your question, two or more babies with DS in a family is rare, but does occur. Specific to your case, what is unknown is how many families experience a miscarriage where the child has DS and then have a subsequent pregnancy positive for DS. However, the rule of thumb is a 1-in-100 chance, or 1%, for having a child with DS (there is a more refined calculation that a genetic counselor could provide you based on your age).

  7. Hello Mark. Please tell me, is there possibility for second child with Down syndrome? And do other families have a normal child after first born with Down syndrome? Thank you.

    • After having a child with Down syndrome, your odds for having another child with Down syndrome are increased. The National Society for Genetic Counselors has a precise formula based on maternal age, but the general rule of thumb is that your odds for having another child with Down syndrome increase to 1%. There are several families that have multiple children with Down syndrome. There are many more families that have a child with Down syndrome and go on to have other children that do not have Down syndrome. The latter is my personal experience: my eldest child has Down syndrome and her little brother does not.

  8. Hi, For some reason I am unable to comment on the thread regarding NIPT. I am highly confused with very little information available ( 2.5 weeks out from the Amnio). I am 31, 15 weeks pregnant with my second. My Sequenom NIPT came back positive for ” Decreased Chromosome 21, suggestive Low Mosaic Monosomoy 21″. There is little to no information online and even with the genetic counseling have no information on the % of probability for this result or the accuracy. I presume with the other standard findings the accuracy may be more readily available. Thanks in advance.

    • I am not familiar with Monosomy 21 being something detected by Sequenom or other cfDNA and there is not an online calculator. Without more, I would figure its accuracy is the same or lower as for other conditions these tests are not recognized for, meaning most are false positives.

  9. Hi Mark. My ultrasound was so hectic. At 20 weeks. I was informed from a radiology report of an increased Nuchal fold thickness, 6.7 mm. I know it should be under 6 and was considered an isolated soft marker. After finding this, MFM conducted a detailed anatomic survey to look for any other markers, none, and congenital malformations, none. When I spoke with my OB, he was looking at the images and thought that one was at an angle, and said he found a much better image, with the correct plane in sight, to be a normal measurement, 4.4 mm. I was on the fence for having a soft marker or not present, so I was offered NIPT for a little more clarity. Results arrived negative for everything – I had read that cfDNA trumps soft markers indicative of trisomies- however should still be monitored of course if they mean something clinically. Is this true?

    Also- after my NIPT, I checked in with a genetic counselor to ask a question. She said that with a negative result, the odds were <1/10,000. I asked if the soft marker affected this, and she said the likelihood ratio is 17. Take that, multiply by 17, to receive a new ratio of 1/588.

    I don’t know how this is correct math, for they are two different tests – and I thought NIPT trumps soft markers – I don’t know how an operator dependent screening can be used with the same weight as a genetic test, if this makes sense. I was thinking the odds would remain at <1/10,000 for anyone who took the test and received negative, no matter the soft marker.

    Also, I was thinking – it is an inequality, so the number could actually be 1/12,000 or 1/100,000…so taking the 10,000 number multiplying by the ratio also seems to not make sense to me.

    Thank you!

    • ACOG guidelines say that an NIPT results takes precedence over all other screen results, including soft markers. However, soft markers, particularly an enlarged NT, have been shown to have a correlation with the health of the pregnancy, to include a possible increased risk for preeclampsia, hence why they are still monitored, but not for indication of a genetic condition. I’m unaware of the method your genetic counselor used to arrive at a revised negative predictive value. Per current guidelines, your NIPT result is what should be relied upon for the genetic conditions NIPT tests for (T21, 18, 13, and sex), and a negative NIPT result has a greater than 99% chance of being a true negative.

      • Thank you! That’s what I was thinking of as well…I’m not sure how she revised the NIPT…it was something about likelihood ratio, but perhaps she was just giving an example and not truly calculating a risk? It left me very confused after the encouragement to take the NIPT. I keep thinking because of the NF I must fall in the less than 1% chance of being a false negative, it’s where my brain keeps going!
        Do you have the article or post about ACOG guidelines stating the precedence of NIPT over soft marker? Just looking for more info. Thank you for your helpfulness. Prayers!

        • I summarize the guidelines at this link. The 2020 ACOG guidelines are behind a paywall. Both the 2020 and 2016 ACOG guidelines recommend offering cfDNA screening after soft markers are identified and that the cfDNA results take precedence over the soft markers. The 2020 ACOG guidelines also note that most soft markers are identified for unaffected (“euploid”) fetuses.

          • “The 2020 ACOG guidelines also note that most soft markers are identified for unaffected (“euploid”) fetuses”

            I’m so sorry it’s been a while since I’ve read scientific text…what does this mean?

          • When soft markers are identified on ultrasound, most of the time it turns out the fetus is unaffected, i.e. does not have the chromosomal condition suggested by the soft marker. Put another way, most soft markers are false positives.

          • So in my position, you would use the NIPT result to rule this out?

          • Per the guidelines, NIPT result takes precedence over soft markers.

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