Prenatal Testing for Down Syndrome: A New Resource and a National Plan

7/27/2019 Prenatal Testing for Down Syndrome: A New Resource and a National Plan

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PrenatalTes+ngforDownSyndrome:

ANewResourceandaNa+onalPlan

MichelleSieWhi*en,Execu0veDirectorGlobalDownSyndromeFounda0on

SueJoe,AffiliateRela0onsDirectorNa0onalDownSyndromeCongress

GlobalDownSyndromeFounda2onResearch&MedicalCareRoundtable

July18,2013ChildrensHospitalColorado

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APersonalStory

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SophiaKayWhi>en

Neverdoubtthatasmallgroupofthoughul,commi*edci0zenscanchangethe

world;indeed,it'stheonlythingthateverhas.

MargaretMead

AnnaandJohnJ.Sie


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May 9, 2007

September 8, 2008

About 90 percent of pregnant women who are given a Down syndrome diagnosishave chosen to have an abortion.

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, 3


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2/15/13 CONFIDENTIAL

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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.

Jon Wills Gift: Living Well with Down Syndrome

May 2, 2012

So today science enables what the ethos ratifies 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.

Eugenics, American StyleFeb. 21, 2012

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.

Investigating 90% Termination Rate of Down Syndrome Fetuses

Nov. 15, 2012

There is a startling statistic nationwide that has made waves in the genetic

community: 90 percent of women who find 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.

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.

Feb. l7, 2013


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Termina+onRates

forDownSyndrome

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Thewidelyreportedes0matethat9%ofpregnantwomenintheU.S.whogetadiagnosisofDownsyndromethroughamniocentesis

choosetoterminateISINACCURATEBasedonstudyfrom199sthatalsoincludedU.K.andmainlandEurope

Moretargeted212reviewofjustU.S.dataandtermina0onratesfollowingaprenataldiagnosisforDownsyndromees0matestermina0onratesfrom1995-211wereabout67%


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AFrameworkof

Discrimina+on-OBGYNS

24ACOGsurveypublishedin26532professionalssurveyed45%ratedtheirtrainingindeliveryofprenataldiagnoses(includingDownsyndrome)asbarelyadequateandnon-existent

28%ratedthemselvesaswellqualifiedtodeliveraprenataldiagnosis

28ACOGsurveyne*edsimilarresultsCONCLUSIONMedicalprofessionalsneedcurrent,accurateinforma0onaboutDownsyndromeandotherprenatallydiagnosedcondi0ons

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AFrameworkofDiscrimina+onGene+csProfessionals

2study(Wertz)publishedinGeorgetownUniversityPress,DrawingLinesNotesfromPolicyMakers 4,594gene0csprofessionalssurveyedin37na0ons(1,538intheUS) 63%trytobeasunbiasedaspossible 13%ac0velyemphasizenega0veaspects 1%ac0velyencouragetermina0on 1%ac0velyemphasizeposi0veaspects 4%ac0velyencourageproceedingwiththepregnancy

1999GeneOcsinMedicinecost/benefitanalysis:Californiaprenataltes0ngprogramdescribesthecon0nua0onofpregnancieswithaposi0vediagnosisofDownsyndromeasmissedopportuni0es

CONCLUSIONThereismedicalprofessionalbiasinfluencingthees0mated67%ofpregnantwomenintheUSwhoarediagnosedviaamniowithababywithDSwhochoosetoterminate(Natoli,Ackerman,McDermo*,Edwards)PrenatalDiagnosis14Mar212

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AFrameworkofDiscrimina+onEduc.ofProfessionals

25SpecialOlympicsSurveypublishedin272,5medicalschooldeans,medicalstudents,andresidencydirectors

81%ofmedicalstudentsagreedwiththestatementthattheyarenotgeJnganyclinicaltrainingregardingindividualswithintellectualdisabili+es

58%ofmedicalschoolsdeansbelievesuchtrainingisnotahighpriority

CONCLUSIONThereisadisconnectbetweenwhatmedicalstudentsneedandaregivenregardingIDDandDownsyndrome

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AFrameworkofDiscrimina+on

Parentsperspec+ves

23Harvardstudy(Skotko)publishedin25inAmericanJournalofbstetricsandGynecologyandPediatrics Over1,mothersofchildrenwithDownsyndromesurveyed 141receivedaprenataldiagnosis

CONCLUSIONOverwhelmingmajorityfeltthatthepointofdiagnosiswasverynega+ve

Medicalprofessionalsrefusingtoprovidelife-savingmedicalprocedurestopeoplewithDownsyndromeorcategorizingthemasDNR

MedicalprofessionalsrefusingtotreatsymptomsandrefertosymptomsasjustDownsyndrome PublicschooleducatorswhorefuseachildwithDownsyndromedespitetheIDEAlegisla0on

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Itgetsmorecomplicated

Newnon-invasive1weekbloodtesttoutedas99%accurate

Implieditis99%accurateinALLpregnancies However,itis99%accurateinhighriskpregnanciesover38yearsold November22,213,ACOGCommi*eeonGene0cspublishedastatementthatthenewnon-invasive1weekbloodtestsshouldnotbeofferedtolow-riskwomenorwomenwithmul0plegesta0onsbecauseithasnotbeen

sufficientlyevaluatedinthesegroups. QUESTIONarewomenmakingdecisionsbasedonatestthathasnovalidityforthem?

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Repor+ngof99%accuracy

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ClevelandDecember12,2012Noninvasive

prenatalbloodtest:Earlierstudies--

conductedatleast1weeksintoapregnancy

--indicatedthatVerificanprovidethesame

informa0onwithasmuchaccuracy(nearly100

percentforTrisomy21and18)butwithouttherisks,howeversmall,offalseposi0ves,

miscarriageandothercomplica0onsassociated

withtheinvasivetests

HealthToday2013/01/28Newprenataltest

givesparentsmoreinforma+onwithless-risk

andabonus?an.28,2013

[thetestshave]anaccuracyrateofcloseto

99percent.Thetestcostsroughlythesameas

amniocentesis,about$2,,anditmaybe

coveredbyinsurance.

PregnancyandBabyAug.23,2012-InterviewwithKenSong,MDand

CEOofAriosaDiagnos+cs,whichhasdevelopedtheHarmonyPrenatal

Test-Withasingleblooddrawfromthepregnantmother,doctorsandlabsthatusetheHarmonyPrenatalTesthaveanewop0onthathasbeen

showntobehighlyaccurateandlessinvasive.WithHarmony,the

detec+onoftrisomy21(thatcausesDownsyndrome)is>99%withafalse

posi0veratelessthan.1%,hereported.Also,non-invasiveprenatal

testslikeHarmonycanbeperformedasearlyas1weeksgesta0on.


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So.Whattodo?

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DownSyndrome

PrenatalTes+ngPamphlet

www.downsyndrometest.org

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HowthePamphletWas

Established

Commi*eeofmedicalprofessionals,Downsyndromeorganiza0ons,familiestodiscuss

whatshouldbeinpamphlet

Surveyopentothepublicforcommentsonpamphletscontents

Closeto3responses Revisionsmadebasedonfeedback

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GoalsofthePamphlet

Clear,accurate,up-to-dateinforma0ononDownsyndromeandprenataltes0ng

Inexpensivetoproduceandfreetopregnantwomenandmedicalprofessionals

Easytoaccessthroughwidedistribu0onandwebsite

Updatableaswarrantedbyfeedbackandadvancesinscience AvailableinEnglishandSpanish

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Termina+onOurPhilosophyandhowdoothercondi+onshandlethat?

Condition Name Definition Prenatal Testing Source

Offering Terminationas a Choice

1 Cystic Fibrosis

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

Blood screenings, CVS,amniocentesis Cystic Fibrosis Foundation NONE

Kidshealth.org NONE

March of Dimes NONE

2 Fragile XA 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 NONE

3 HIV

Short forhuman immunodeficiency virus. Any of various strains of a retrovirus of thegenus Lentivirus that cause AIDS by infecting the body's immune system.

Blood test

Kidshealth.org NONE

Washington State Department of Health NONE

4 Huntington Disease

A disorder passed down through families in which nerve cells in certain parts of the brainwaste away, or degenerate. CVS, amniocentesis wemove.org NONE

5 Klinefelter Syndrome The presence of an extra X chromosome in a male. CVS, amniocentesis emedtv.com NONE

6 Spina BifidaA birth defect in which the backbone and spinal canal do not close before birth. Thecondition is a type of spina bifida.

Blood screenings, ultrasound,amniocentesis Spina Bifida Association

One sentence on

termination*Kidshealth.org NONE

Mayo Clinic NONE

7 Tay-Sachs DiseaseA genetic disease occuring when the body lacks hexosaminidase A, a protein that helpsbreak down a chemical found in nerve tissue called gangliosides. Typically fatal by age 5.

Blood screenings, CVS,amniocentesis Kidshealth.org NONE

National Tay-Sachs & Allied Diseases

One sentence refers to"end of pregnancy"

8 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+onofthePamphlet

Distribu0onagreementwithprenatal-test-makerSequenomthroughitsna0onwidenetworkofsalesrepresenta0ves

NofinancialbenefitorrewardforcompanyorDownsyndromeorganiza0onsApproximately75,EnglishandSpanishpamphletshavebeendistributedtophysiciansandhospitalsthroughSequenomsalesrepresenta0ves

Ontracktodistribute1Kbyyearend Ini0alfeedbackfrommedicalprofessionalsisveryposi0ve,willhavesurveyresultsbackinMay/June

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PrenatalTes+ngPamphlet

Distribu+on

UPDATE downsyndrometest.org

Over5,5Englishand1,4SpanishpamphletsrequestedandsentacrosstheU.S.: OBGYNoffices

Hospitalmaternal-fetal-medicinedepartments Downsyndromeorganiza0ons Parentalsupportgroups Perinatalconference Gene0ccounselors Parentsinterestedindistribu0ngtomedicalprofessionals

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Tes+monials

Thisbrochureisanexcellenteduca0onaltool.Ithasbeenwellreceivedbyourpa0ents.Woulditbepossibletoobtainseveralhundredcopiesofthisbrochuretodistributeatourcenter?

Iwasinterestedinreques0ng1,bookletstobesenttoourphysician'soffice.Asagene0ccounselor,Iwouldliketodistributethisinforma0ontomypa0ents.

IhaveworkedwithindividualswithDownsyndromesince1982asaprofessional;andmybiologicalsonwithDownsyndromeisnow18yearsold.IhaveNEVERseenapamphletlikethisANYWHERE.

MyexperiencewithreceivingtheDownsyndromediagnosiswasharshanduneducated.Itwouldhavebeencomfor0ngtoreadthisbrochurehaditbeenavailable.Thankyou.

IhaveworkedintheOB/GYNfieldfor26yearsandhaveneverseensuchawell-wri*en,comprehensivepamphletsuchasthis!

Iamsohappytoknowthatthereisfinallyapamphletavailableforparents.IwastoldmychildhadDownsyndromeaerdoingamniocentesis,andthewayIwastoldwasnotgood.

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ANa+onalPlan

Hireafull0merepresenta0vein213 ACOGandstatebystateACOG StatebystateMaternal-fetaldistribu0on StateOBGYNdepartments&associa0ons Hospitals Medicalschools Conferences Grassrootsefforts(oneOBGYNata0me!)

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Feedbackloopiscri+cal-

upda+ngthepamphlet

Audience=pregnantwomen Feedbackloop

Ana0onalsurveyspecificallyforpregnantwomenFocusgroupsspecificallyofpregnantwomenShortsurveyforparentsinourcampaignSurveysthroughSequenom

214=Es0matededitsbasedonthefeedbackbutcanmovefasterifappropriate

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HowYouCanHelp

Togetherwecanstopthemisinforma0onand:helpmedicalprofessionalsprovidecurrent,accurateinforma0onaboutDownsyndromeat

thepointofofferingthetestandifthetestisposi0ve

helppregnantwomenreceivecurrent,accurateinforma0onaboutDownsyndrome

SignupforourcampaignBRINGYOURPAMPHLETTOOBGYNDAY!

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Thankyou!

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Documents

Prenatal Testing for Down Syndrome: A New Resource and a National Plan