Prenatal

Tes+ng for Down Syndrome: A New Resource and a Na+onal Plan

Michelle Sie Whi*en, Execu0ve Director Global Down Syndrome Founda0on Sue Joe, Aliate Rela0ons Director Na0onal Down Syndrome Congress

Global Down Syndrome Founda2on Research & Medical Care Roundtable July 18, 2013 Childrens Hospital Colorado
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A Personal Story

Anna and John J. Sie

Sophia Kay Whi>en

Never doubt that a small group of thoughJul, commi*ed ci0zens can change the world; indeed, it's the only thing that ever has. Margaret Mead
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May 9, 2007

About 90 percent of pregnant women who are given a Down syndrome diagnosis have chosen to have an abortion. September 8, 2008

Up to 90% of women who receive Down syndrome diagnoses for their fetuses have abortions . The number could rise as simple blood tests for abnormalities head to market. Nov. 2, 2009 Down Syndrome Births Drop in U.S. as More Women Abort An estimated 92 percent of all women who receive a prenatal diagnosis of Down syndrome choose to terminate their pregnancies,

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Sept. 14, 2010

Deciding Not to Screen for Down Syndrome

Even as maternal age increases, the incidence of children born with Down syndrome is decreasing. Studies show that 85 percent to 90 percent of women with a prenatal diagnosis of Down syndrome choose to terminate their pregnancies.
May 2, 2012 Jon Wills Gift: Living Well with Down Syndrome
CONFIDENTIAL

2/15/13

So today science enables what the ethos raties the choice of killing children with Down syndrome before birth. That is what happens to 90 percent of those whose parents have prenatal testing which is unfortunate, and not just for them.

Feb. 21, 2012

Eugenics, American Style

Of 22,000 women who received prenatal diagnosis in one 1990 study in Canada, 88 percent of those who found they were carrying a child with Down Syndrome aborted the fetus. Other studies have put the rate of Down Syndrome abortions at about 90 percent, some even higher.
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In the United States a number of studies have examined the abortion rate of fetuses with Down syndrome. Three studies estimated the termination rates at 95%, 98%, and 87% respectively.

Nov. 15, 2012 Investigating 90% Termination Rate of Down Syndrome Fetuses There is a startling statistic nationwide that has made waves in the genetic community: 90 percent of women who nd out they are carrying a fetus with Down syndrome choose to terminate the pregnancy. Nationwide, nine in ten women carrying a Down syndrome fetus end the pregnancy.
Feb. l7, 2013 For every ten babies diagnosed prenatally with Down syndrome, only one will get to live. The other nine will be killed, simply because they have an extra chromosome.

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Termina+on Rates for Down Syndrome

The widely reported es0mate that 90% of pregnant women in the U.S. who get a diagnosis of Down syndrome through amniocentesis choose to terminate IS INACCURATE
Based on study from 1990s that also included U.K. and mainland Europe

More targeted 2012 review of just U.S. data and termina0on rates following a prenatal diagnosis for Down syndrome es0mates termina0on rates from 1995-2011 were about 67%
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A Framework of Discrimina+on - OBGYNS

2004 ACOG survey published in 2006
532 professionals surveyed 45% rated their training in delivery of prenatal diagnoses (including Down syndrome) as barely adequate and non-existent 28% rated themselves as well qualied to deliver a prenatal diagnosis 2008 ACOG survey ne*ed similar results CONCLUSION Medical professionals need current, accurate informa0on about Down syndrome and other prenatally diagnosed condi0ons
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Discrimina+on Gene+cs Professionals

2000 study (Wertz) published in Georgetown University Press, Drawing Lines Notes from Policy Makers
4,594 gene0cs professionals surveyed in 37 na0ons (1,538 in the US) 63% try to be as unbiased as possible 13% ac0vely emphasize nega0ve aspects 10% ac0vely encourage termina0on 10% ac0vely emphasize posi0ve aspects 4% ac0vely encourage proceeding with the pregnancy

A Framework of

1999 GeneOcs in Medicine cost/benet analysis: California prenatal tes0ng program describes the con0nua0on of pregnancies with a posi0ve diagnosis of Down syndrome as missed opportuni0es CONCLUSION There is medical professional bias inuencing the es0mated 67% of pregnant women in the US who are diagnosed via amnio with a baby with DS who choose to terminate (Natoli, Ackerman, McDermo*, Edwards) Prenatal Diagnosis 14 Mar 2012
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Discrimina+on Educ. of Professionals

A Framework of

2005 Special Olympics Survey published in 2007

2,500 medical school deans, medical students, and residency directors 81% of medical students agreed with the statement that they are not geJng any clinical training regarding individuals with intellectual disabili+es 58% of medical schools deans believe such training is not a high priority CONCLUSION There is a disconnect between what medical students need and are given regarding IDD and Down syndrome
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A Framework of Discrimina+on Parents perspec+ves

2003 Harvard study (Skotko) published in 2005 in American Journal of Obstetrics and Gynecology and Pediatrics
Over 1,000 mothers of children with Down syndrome surveyed 141 received a prenatal diagnosis CONCLUSION Overwhelming majority felt that the point of diagnosis was very nega+ve

Medical professionals refusing to provide life-saving medical procedures to people with Down syndrome or categorizing them as DNR Medical professionals refusing to treat symptoms and refer to symptoms as just Down syndrome Public school educators who refuse a child with Down syndrome despite the IDEA legisla0on

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It gets more complicated

New non-invasive 10 week blood test touted as 99% accurate Implied it is 99% accurate in ALL pregnancies However, it is 99% accurate in high risk pregnancies over 38 years old
November 22, 2013, ACOG Commi*ee on Gene0cs published a statement that the new non-invasive 10 week blood tests should not be oered to low-risk women or women with mul0ple gesta0ons because it has not been suciently evaluated in these groups.

QUESTION are women making decisions based on a test that has no validity for them?

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Repor+ng of 99% accuracy

Cleveland December 12, 2012 Noninvasive prenatal blood test: Earlier studies -- conducted at least 10 weeks into a pregnancy -- indicated that Veri can provide the same informa0on with as much accuracy (nearly 100 percent for Trisomy 21 and 18) but without the risks, however small, of false posi0ves, miscarriage and other complica0ons associated with the invasive tests

Health Today 2013/01/28 New prenatal test gives parents more informa+on with less-risk and a bonus? Jan. 28, 2013 [the tests have]an accuracy rate of close to 99 percent. The test costs roughly the same as amniocentesis, about $2,000, and it may be covered by insurance.

Pregnancy and Baby Aug. 23, 2012 - Interview with Ken Song, MD and CEO of Ariosa Diagnos+cs, which has developed the Harmony Prenatal Test - With a single blood draw from the pregnant mother, doctors and labs that use the Harmony Prenatal Test have a new op0on that has been shown to be highly accurate and less invasive. With Harmony, the detec+on of trisomy 21 (that causes Down syndrome) is >99% with a false posi0ve rate less than 0.1%, he reported. Also, non-invasive prenatal tests like Harmony can be performed as early as 10 weeks gesta0on.
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 So. What to do?

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Down Syndrome Prenatal Tes+ng Pamphlet

www.downsyndrometest.org
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How the Pamphlet Was Established

Commi*ee of medical professionals, Down syndrome organiza0ons, families to discuss what should be in pamphlet Survey open to the public for comments on pamphlets contents
Close to 300 responses

Revisions made based on feedback

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Goals of the Pamphlet

Clear, accurate, up-to-date informa0on on Down syndrome and prenatal tes0ng Inexpensive to produce and free to pregnant women and medical professionals Easy to access through wide distribu0on and website Updatable as warranted by feedback and advances in science Available in English and Spanish
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and how do other condi+ons handle that?

Condition Name Definition Prenatal Testing Source Offering Termination as a Choice

Termina+on Our Philosophy

Cystic Fibrosis

A disease passed down through families that causes thick, sticky mucus to build up in the lungs, digestive tract, and other areas of the body. It is one of the most common chronic lung diseases in children and young adults. It is a life-threatening disorder.

Blood screenings, CVS, amniocentesis

Cystic Fibrosis Foundation Kidshealth.org March of Dimes

NONE NONE NONE

Fragile X

A genetic condition involving changes in part of the X chromosome. It is the most common form of inherited intellectual disability in boys.

CVS, amniocentesis National Fragile X Foundation Kidshealth.org Blood test NONE NONE

HIV Short for human immunodeficiency virus. Any of various strains of a retrovirus of the genus Lentivirus that cause AIDS by infecting the body's immune system.

Washington State Department of Health

NONE

Huntington Disease

A disorder passed down through families in which nerve cells in certain parts of the brain waste away, or degenerate.

CVS, amniocentesis

wemove.org

NONE

Klinefelter Syndrome

The presence of an extra X chromosome in a male.

CVS, amniocentesis

emedtv.com

NONE

Spina Bifida

A birth defect in which the backbone and spinal canal do not close before birth. The condition is a type of spina bifida.

Blood screenings, ultrasound, amniocentesis

Spina Bifida Association Kidshealth.org Mayo Clinic

One sentence on termination* NONE NONE

Tay-Sachs Disease

A genetic disease occuring when the body lacks hexosaminidase A, a protein that helps break down a chemical found in nerve tissue called gangliosides. Typically fatal by age 5.

Blood screenings, CVS, amniocentesis

Kidshealth.org National Tay-Sachs & Allied Diseases

NONE One sentence refers to "end of pregnancy"

Turner Syndrome

A genetic condition in which a female does not have the usual pair of two X chromosomes.

CVS, amniocentesis

Mayo Clinic

NONE

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Distribu+on of the Pamphlet

Distribu0on agreement with prenatal-test-maker Sequenom through its na0onwide network of sales representa0ves
No nancial benet or reward for company or Down syndrome organiza0ons Approximately 75,000 English and Spanish pamphlets have been distributed to physicians and hospitals through Sequenom sales representa0ves On track to distribute 100K by year end Ini0al feedback from medical professionals is very posi0ve, will have survey results back in May/June
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Prenatal Tes+ng Pamphlet Distribu+on UPDATE

downsyndrometest.org

Over 5,500 English and 1,400 Spanish pamphlets requested and sent across the U.S.:
OBGYN oces Hospital maternal-fetal-medicine departments Down syndrome organiza0ons Parental support groups Perinatal conference Gene0c counselors Parents interested in distribu0ng to medical professionals
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Tes+monials
This brochure is an excellent educa0onal tool. It has been well received by our pa0ents. Would it be possible to obtain several hundred copies of this brochure to distribute at our center? I was interested in reques0ng 1,000 booklets to be sent to our physician's oce. As a gene0c counselor, I would like to distribute this informa0on to my pa0ents. I have worked with individuals with Down syndrome since 1982 as a professional; and my biological son with Down syndrome is now 18 years old. I have NEVER seen a pamphlet like this ANYWHERE. My experience with receiving the Down syndrome diagnosis was harsh and uneducated. It would have been comfor0ng to read this brochure had it been available. Thank you. I have worked in the OB/GYN eld for 26 years and have never seen such a well-wri*en, comprehensive pamphlet such as this! I am so happy to know that there is nally a pamphlet available for parents. I was told my child had Down syndrome ayer doing amniocentesis, and the way I was told was not good.
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A Na+onal Plan
Hire a full 0me representa0ve in 2013 ACOG and state by state ACOG State by state Maternal-fetal distribu0on State OBGYN departments & associa0ons Hospitals Medical schools Conferences Grassroots eorts (one OBGYN at a 0me!)
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Feedback loop is cri+cal - upda+ng the pamphlet

Audience = pregnant women Feedback loop
A na0onal survey specically for pregnant women Focus groups specically of pregnant women Short survey for parents in our campaign Surveys through Sequenom

2014 = Es0mated edits based on the feedback but can move faster if appropriate
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How You Can Help

Together we can stop the misinforma0on and:
help medical professionals provide current, accurate informa0on about Down syndrome at the point of oering the test and if the test is posi0ve help pregnant women receive current, accurate informa0on about Down syndrome

Sign up for our campaign BRING YOUR

PAMPHLET TO OBGYN DAY!

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Thank you!

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