HB453 Testimony

Earlier today, the Senate Health Care Committee heard and passed the Human Life Non-Discrimination Act (HB453). The event coincided with NC Value's Legislative Day of Action, which focused today on passing the Human life Non-Discrimination Act (HB453) in the Senate. 

I wanted to share with you two powerful testimonies submitted to the Judiciary Committee. One is from Dr. Tara Sander Lee from the the Charlotte Lozier Institute. The other located here is from Katie Shaw, a pro-life leader born with Down syndrome:


KATIE SHAW HB 453 TESTIMONY:

Good morning.  My name is Katie Shaw. Thank you for letting me speak with you today. I hope you see why I think House Bill 453 is so important.

I would like to share a little about my wonderful life.  I am 36 years old and from Indianapolis Indiana. (It was 59 degrees in Indiana…then we arrived here last night.  I think you beat us into summer! 😊.)  

My parents found out I had Down syndrome when mom was pregnant. Thankfully, the doctors never mentioned abortion. They said I would need surgery the day I was born and started planning what would help me have a wonderful life. 

I came home on my mom’s 29th birthday to help her have a wonderful life and I think, I hope, I have helped many have wonderful lives...just like you! -because YOU were given the chance! I have been given wonderful opportunities like all my friends, with or without Down syndrome.  I learned sign language, was a girl scout, played 5 sports and managed the HS softball team. I learned piano and violin.  I received 1st Holy Communion and was confirmed in my faith. 

I got a certificate of high school completion.  I had taken mostly regular ed classes except Math and Economics.  (Math is not my forte😊) Then, I got my High school equivalency diploma and then an Early Childhood Associate Certificate from Ivy Tech Community College.  

After 5 years in childcare, I changed careers and have been in retail over 10 years. I love helping the customers. I am on the Board and volunteer at Down syndrome Indiana.  I enter data into the computer, talk with school age children about how people with disabilities have a lot more in common than different from them and I have spoken with medical residents about caring for people with Down syndrome.   I helped care for my grandparents when they lived with us, - cooking, giving insulin and whatever they needed when my folks weren’t home.  We taught each other a lot about wonderful lives. 😊  

I have a busy life, but it is a wonderful life, probably just like most of You!

I share these things because I believe every life is a wonderful gift.  But, the older I get the more I realize not everyone sees that!  That is why I wanted to start helping unborn babies especially.Some women say that HB 453 is “burdening them when they are justtrying to get informed decisions about THEIR health care.”  But given a chance, doctors can educate and help themother see what a wonderful life her baby can have.  That would help the mother’s health AND the baby’s health! “It’s a Wonderful Life” is a movie about how one man being born helped make the world wonderful for so many!  His life wasn’t perfect or go as he had planned.  There was sorrow, money problems, illness…BUT there was so much more of love, happiness and JOY!  

Every person in this room, with or without Down syndrome, has experienced those things.  That is part of each person’s wonderful life! Thank you again for letting me speak.  I hope you will help pass House Bill 453.

Help those with Down syndrome have a chance, like us, make the world more wonderful. 

I will close with a quote from a wonderful author who said, “I will praise you for I am fearfully and wonderfully made. Your works are wonderful.  I know full well”.   (Psalm 139)

DR. TARA SANDER LEE HB453 TESTIMONY:

Written Testimony of Tara Sander Lee, Ph.D.

Senior Fellow and Director of Life Sciences, Charlotte Lozier Institute

House Health Committee, North Carolina May 2021

To the Honored Members of the House Health Committee,
Thank you for the opportunity to testify on HB 453, the Human Life Non-Discrimination Act.

I am a scientist with over 20 years’ experience in basic science research and clinical medicine. My education and experience involve a PhD in Biochemistry from the Medical College of Wisconsin followed by postdoctoral training at Harvard Medical School and Boston Children’s Hospital in molecular and cell biology. I held faculty appointments at the Medical College of Wisconsin and the Children’s Research Institute, with a focus on the pathologic mechanisms of childhood disease. My clinical experience includes appointments as Scientific Director of Molecular Diagnostics at Children’s Hospital of Wisconsin and Children’s Specialty Group with credentialed hospital privileges. I also served as a molecular pathology inspector for the College of American Pathologists and scientific consultant for various entities. I am testifying in my capacity as a scientist, with expertise in molecular genetics and diagnostic testing, at the request of the Susan B. Anthony List.

The purpose of this bill is to prevent eugenic discrimination and induced termination of a pre- born child based on race, sex, or the presence or presumed presence of a genetic abnormality like Down syndrome. Down syndrome is a trisomy disorder genetically caused by the presence of an extra copy of chromosome 21. This genetic anomaly occurs at conception, when the man’s sperm fuses with a woman’s egg to form a single-cell embryo—the creation of a new, totally distinct, integrated organism or human being.1 Most children with Down syndrome survive to birth, often with medical conditions, such as congenital heart defects, eye disease, thyroid disease, and hearing loss. With appropriate medical care, children born with Down syndrome can lead healthy, happy lives with an average life expectancy of 60 years.2

The frequency of Down syndrome in the population is estimated to be 1 in 700 live births.3 And the Center for Disease Control estimates that each year, 6,000 babies are born with Down syndrome in the United States.4

Down syndrome can be diagnosed in a newborn baby at birth or shortly thereafter. However, early prenatal screening and testing for Down syndrome are targeting babies inside the womb for destruction based on their presumed risk for trisomy 21. Some view the ability to detect trisomy 21 in the first trimester as a “benefit” so that “decisions regarding pregnancy termination may be made at a time when services are more readily available.”5 A survey in Australia found that 97% of women who had already undergone non-invasive prenatal screening had a personal interest in using a cell-free prenatal screening test to identify a Down syndrome trait and 43% of women were likely or definitely likely to terminate a pregnancy if the result came back positive (38% were unsure).6

HB 453 is needed to protect babies diagnosed or at risk of trisomy 21 against disability discrimination through abortion. There is well-documented evidence in the U.S. and abroad showing that babies are being aborted at an alarming rate after receiving a “positive” prenatal trisomy 21 result.

In the U.K., a 1999 study found a 92% abortion rate for children diagnosed in the womb with Down syndrome.7 Maxwell and co-workers reported a 93% abortion rate in Western Australia for babies diagnosed in the womb with Down syndrome.8 De Graaf and colleagues looked at the Down syndrome population throughout Europe and found that there were 50% fewer babies born with Down syndrome looking back 40 years up to 2015, and that just over the period of 2011- 2015, abortions decreased the Down syndrome population in Europe by a rate of 27%.9,10

In the U.S., a 2012 review of the literature on this topic found a range from 61% up to 93% of those diagnosed with Down syndrome in the womb who were aborted.11 More recent data show that abortion accounts for a 33% reduction in the number of babies with Down syndrome born in 2014. This means that in recent years there were 33% fewer babies with Down syndrome born in the U.S. than could have been.12

In 2009, Skotko posed the question of whether the new, non-invasive prenatal testing would mean babies with Down syndrome would slowly disappear.13 In less than a decade, his question was answered. In 2017, Iceland reported that it was on pace to virtually eliminate Down syndrome through abortion.14 Denmark was the first country to institute a national screening program, and it has seen Down syndrome births drop dramatically.15 Denmark is moving closely on the heels of Iceland, getting ever closer to “eliminating” Down syndrome in their population.16

Standard prenatal screening for Down syndrome is often performed during the first and second trimester to calculate the risk of having a baby with trisomy 21. Maternal age, serum analyte screening for biochemical markers (such as the triple screen or quad screen), and fetal nuchal translucency (NT) measurement are considered first-line screening.17 However, these standard screening tests do not accurately predict the risk of Down syndrome. There is a high false- positive rate of incorrect reporting (a negative result is reported as positive) ranging from 1-14% and incredibly low positive predictor values (PPV, the proportion of positive test results that are true positives) of 4.2%.18

Traditional screening for trisomy 21 may be combined with other DNA screening and diagnostic testing, usually between 10-18 weeks gestation, to increase the chance of correctly predicting a Down syndrome risk. Diagnostic DNA tests can be performed using fetal samples obtained via amniocentesis and chorionic villus sampling. These tests are accurate, but the means to obtain fetal samples for DNA testing from the amniotic sac and placenta are invasive and carry their own risks for pregnancy loss.19

A new, advanced method of non-invasive prenatal screening (NIPS; also known as NIPT) is on the market, reducing the need for invasive techniques. NIPS uses cell-free fetal DNA (also known as cffDNA) found in the maternal circulation to screen for chromosomal aneuploidy such as trisomy 21. Scientists can detect cell-free fetal DNA from a mother’s blood sample as early as 4 weeks and 5 days after fertilization.20 Cell-free fetal DNA is consistently detected from seven weeks21, remains level between 10 and 21 weeks,22 steadily increases after 24 weeks, peaks at birth, and then declines postpartum.23 NIPS is the predominant method used in both low- and high-risk patients and is endorsed by all major medical organizations to be used as the “primary test in all women”.24

Once the cell-free DNA sample is collected, NIPS uses advanced molecular techniques to determine a child’s genetic susceptibility to Down syndrome.25 Various platforms analyze cell-free fetal DNA fragments across the whole (or part) of the genome using next generation sequencing (NGS), targeted sequence analysis, and array-based techniques. NGS platforms that screen fragments from the entire genome can be reliable, specific, and sensitive with a reported failure rate of 0.1% (inconclusive result) and false-positive rate of <0.1%.26

NIPS may be less invasive compared to amniocentesis and CVS, but it is far less accurate and is not diagnostic, because the cell-free fetal DNA that is collected is fragmented. Therefore, NIPS can only report whether the patient’s results are consistent with an increased risk for trisomy 21 that causes Down syndrome. Even with the most comprehensive molecular platform (i.e., NGS, array technology), NIPS will never be a diagnostic test that can definitively report a person’s known risk of having Down syndrome.

With any clinical laboratory test, especially NIPS, there are inherent limitations. No test or screen will always perform the way it should 100% of the time. From my own experience directing a genetic testing lab for almost 10 years—the DNA test is never 100% accurate every time. Underlying conditions can limit NIPS performance and interfere with test results including placental mosaicism, maternal chromosomal abnormality, vanishing twin, organ transplant, etc. Incorrect reporting due to erroneous results, technical problems, and lab errors (i.e., false positives, false negatives, mixed specimens, mislabeling, etc.) is also a possibility.

Past pregnancies may also interfere with the NIPS result. Some studies have shown that cell-free fetal DNA is rapidly cleared from the maternal blood, with 100% clearance within 1-2 days postpartum27,28, suggesting that fetal DNA from past pregnancies should not interfere with current tests. However, other studies have found the persistence of fetal DNA for decades in the mother.29,30

NIPS limitations will affect correct result reporting and interpretation. One widely utilized NIPT screening test on the market has a positive predictive value (PPV) of 81%, meaning that there is a significant chance that a positive test result is NOT a true positive.31 But even this reported

PPV value is deceiving, because PPV is based on test sensitivity, specificity, and the prevalence of the condition in the population being tested. Because the prevalence of Down syndrome increases with maternal age, PPVs will be higher in patients of advanced maternal age (>35 years old) and will likely increase when other aneuploidy risk factors are known (e.g., ultrasound abnormalities).32

A comprehensive study across 21 different centers in the United States, which included 1,914 women (mean age, 29.6 years), observed much lower positive predictor values of 45.5% for trisomy 21. This indicates that a significant proportion (over 50%) of “positive” test results for Down syndrome may not be truly positive when screening women mostly at low risk.33 For this reason, the authors from this study highlight the “need for follow-up diagnostic testing to confirm true positive results before decisions are made about irrevocable clinical intervention.”34 They know that a woman might tragically abort her child based on an erroneous and incorrect NIPS lab result.

There are significant medical advancements that use prenatal screens and tests to heal and not harm the developing baby. The perinatal revolution has made it possible to perform interventions on the preborn before birth while still in the womb, through neonatal and fetal surgeries, potential pharmaceutical treatments as well as cell-based and genetic therapies.35

There is even evidence that babies with Down syndrome may one day benefit in the future from research of a prenatal treatment with neuroprotective peptides or fluoxetine that can prevent learning deficits, correct intellectual disability, and even improve cognitive performance in a Down syndrome mouse model.36

We need to consider these young individuals as equally valued human lives. Eliminating young lives is not the answer to eliminating disease and disability once a risk of the disorder is identified.37 Destroying the patient is not curative medicine. Such acts become a modern-day form of eugenics.

HB 453 would provide necessary, distinct protections for developing human beings at risk for Down syndrome, preventing discrimination based on genetics or disability. Thank you for the opportunity to contribute to the discussion on this important issue.

###

 

1 Ronan O’Rahilly and Fabiola Müller, Developmental Stages in Human Embryos: Including a Revision of Streeter’s “Horizons” and a Survey of the Carnegie Collection (Washington D.C.: Carnegie Institution of Washington, 637, 1987); and The Endowment for Human Development. Available at: https://www.ehd.org/prenatal-summary.php

2 National Association for Down Syndrome. Available at: https://www.nads.org/resources/facts-about-down-
syndrome/#:~:text=However%2C%20with%20appropriate%20medical%20care,into%20their%20sixties%20an d%20seventies.3 Mai CT, Isenburg JL, Canfield MA, Meyer RE, Correa A, Alverson CJ, Lupo PJ, Riehle‐Colarusso T, Cho SJ, Aggarwal D, Kirby RS. National population‐based estimates for major birth defects, 2010–2014. Birth Defects Research. 111(18): 1420-1435, 2019
5 Rink, B.D. and M.E. Norton, Screening for fetal aneuploidy. Semin Perinatol, 2016. 40(1): p. 35-43.
6 Bowman-Smart H, et al. ‘Is it better not to know certain things?’: views of women who have undergone non-
invasive prenatal testing on its possible future applications. J Med Ethics 2019;45:231–23
7 Mansfield C et al. Termination rates after prenatal diagnosis of Down syndrome, spina bifida, anencephaly, and
Turner and Klinefelter syndromes: a systematic literature review, Prenatal Diagnosis 19, 808, 1999
8 Maxwell S et al., Impact of prenatal screening and diagnostic testing on trends in Down syndrome births and terminations in Western Australia 1980 to 2013, Prenatal Diagnosis 35, 1324–1330, 2015; doi: 10.1002/pd.4698
9 de Graaf G et al., Estimation of the number of people with Down syndrome in Europe, European Journal of Human Genetics published online 31 October 2020, doi: 10.1038/s41431-020-00748-y
10 de Graaf G et al., Factsheet: People living with Down syndrome in Europe: BIRTHS AND POPULATION, 11 November 2020, accessed at: https://go.downsyndromepopulation.org/europe-factsheet
11 Natoli JL et al., Prenatal diagnosis of Down syndrome: a systematic review of termination rates (1995–2011), Prenatal Diagnosis 32, 142–153, 2012; doi: 10.1002/pd.2910
12 de Graaf G et al., Estimates of the live births, natural losses, and elective terminations with Down syndrome in the United States, American Journal of Medical Genetics Part A 167A, 756-776, 2015, doi: 10.1002/ajmg.a.37001
13 Skotko BG, With new prenatal testing, will babies with Down syndrome slowly disappear? Arch Dis Child 94, 823-826, 2009; doi: 10.1136/adc.2009.166017
14 Julian Quinones and Arijeta Lajka, “What kind of society do you want to live in?”: Inside the country where Down syndrome is disappearing, CBS News August 14, 2017, accessed at: https://www.cbsnews.com/news/down-syndrome-iceland/
15 Lou S et al., National screening guidelines and developments in prenatal diagnoses and live births of Down syndrome in 1973-2016 in Denmark, Acta Obstet Gynecol Scand 97, 195-203, 2018; doi: 10.1111/aogs.13273
16 Sarah Zhang “The Last Children of Down Syndrome. Prenatal testing is changing who gets born and who doesn’t. This is just the beginning.” The Atlantic December 2020; accessed at: https://www.theatlantic.com/magazine/archive/2020/12/the-last-children-of-down-syndrome/616928/
17 Rink, B.D. and M.E. Norton, Screening for fetal aneuploidy. Semin Perinatol, 2016. 40(1): p. 35-43.
18 Bianchi, D.W. et al., DNA sequencing versus standard prenatal aneuploidy screening. N Engl J Med 370:9, 2014.
19 Rink, B.D. and M.E. Norton, Screening for fetal aneuploidy. Semin Perinatol 40(1): p. 35-43, 2016 20 G. S. Dawe et al., Cell migration from baby to mother. Cell Adhesion & Migration 1:19-27, 2007. 21 ibid
22 Wapner, R.J and Dugoff, L. Prenatal diagnosis of congenital disorders, in Creasy and Resnik’s Maternal-Fetal Medicine: Principles and Practice 8th Edition, R., Resnik, Lockwood, C.J., Moore, T.R., Greene, M.F., Copel, J.A., and Silver, R.M., Editor. 2019, Elsevier: Philadelphia, PA. p. 506.
23 H. Ariga et al., Kinetics of fetal cellular and cell‐free DNA in the maternal circulation during and after pregnancy: implications for noninvasive prenatal diagnosis. Transfusion 41:1524-30, 2001
24 Wapner, R.J and Dugoff, L. Prenatal diagnosis of congenital disorders, in Creasy and Resnik’s Maternal-Fetal Medicine: Principles and Practice 8th Edition, R., Resnik, Lockwood, C.J., Moore, T.R., Greene, M.F., Copel, J.A., and Silver, R.M., Editor. 2019, Elsevier: Philadelphia, PA. p. 510.
25 ACOG Committee on Genetics, Committee Opinion No. 640: Cell-Free DNA Screening For Fetal Aneuploidy. Obstet Gynecol. 126(3): p. e31-7, 2015
26 Illumina Verifi Prenatal Test: https://www.illumina.com/clinical/reproductive-genetic-health/nipt/sendout- testing-for-labs.html
27 A. Kolialexi et al., Rapid Clearance of Fetal Cells from Maternal Circulation After Delivery. Ann N Y Acad Sci 1022, 113-8, 2004
28 Y. M. D. Lo et al., Rapid Clearance of Fetal DNA from Maternal Plasma. Am. J. Hum. Genet. 64:218–224, 1999 29 D. W. Bianchi et al., Male progenitor cells persist in maternal blood for as long as 27 years postpartum. Proc
Natl Acad Sci USA. 93:705-708, 1996
31 Norton ME et al., Cell-free DNA Analysis for Noninvasive Examination of Trisomy, New England Journal of
Medicine 372, 1589, 2015; doi: 10.1056/NEJMoa1407349
32 National Society of Genetic Counselors, NIPT/Cell free DNA screening predictive value calculator. Available
at: https://www.perinatalquality.org/Vendors/NSGC/NIPT/;
33 Bianchi, D.W. et al., DNA sequencing versus standard prenatal aneuploidy screening. N Engl J Med 370:9, 2014.
34 ibid
35 Malloy C et al., The Perinatal Revolution, Issues in Law and Medicine 34, 15-41, 2019
36 Guidi, S., et al., Prenatal pharmacotherapy rescues brain development in a Down's syndrome mouse model. Brain, 2014. 137(Pt 2): p. 380-401; and Incerti, M., et al., Prenatal treatment prevents learning deficit in Down syndrome model. PLoS One, 2012. 7(11): p. e50724.
37 Chuck Donovan, Eliminating Down Syndrome Children Is Not Something to Be Proud Of, The Daily Signal Aug. 16, 2017, accessed at: https://www.dailysignal.com//print?post_id=351821

Please check your e-mail for a link to activate your account.