Transcript
Page 1: about screening for Down - Ask Share Know · Prenatal testing timeline 5 Down syndrome 6 Prenatal screening tests 8 - Combined first trimester screening 10 - Second trimester screening

Making decisions about screening for Down syndrome in pregnancy

Page 2: about screening for Down - Ask Share Know · Prenatal testing timeline 5 Down syndrome 6 Prenatal screening tests 8 - Combined first trimester screening 10 - Second trimester screening

About this booklet

• Duringpregnancy,thereareprenatal testsavailable tocheckthebaby’shealth.

• Thisbooklethelpspregnantwomenandtheirpartners decidewhetherornottoscreen(check)forDown syndromeinpregnancy.

• Itincludesinformationaboutthedifferenttypesof prenatalscreeningtestsandhowaccuratetheyare indetectingDownsyndrome.

• Italsoincludesinformationaboutwhatlaterdiagnostic testingisavailabletoconfirmwhetheryourbabyhas Downsyndrome.

• Weencourageyoutosharethisbookletwithyourpartner anddiscussitwithyourGP,midwife,obstetricianor geneticcounsellor.

There is a worksheet at the back of this booklet to help you and your partner decide whether or not to have prenatal screening (pages 24 & 25). The medical words are explained on pages 32 & 33.

What does this booklet include?

What is prenatal testing? 4

Prenatal testing timeline 5

Down syndrome 6

Prenatal screening tests 8 - Combinedfirsttrimesterscreening 10 - Secondtrimesterscreening 12 - Non-InvasivePrenatalTesting(NIPT) 14

What do the screening results mean? 16

Diagnostic testing 18 - ChorionicVillusSampling(CVS) 18 - Amniocentesis 19

Options after a diagnosis of Down syndrome 20 - Continuingthepregnancy 20 - Endingthepregnancy 21

Summary of prenatal tests 22

Your personal worksheet 24

Questions to ask your health professional 26

Further information and support services 28

References 31

Medical words 32

Appendix: chromosomeproblemsotherthanDownSyndrome 34

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What is prenatal testing?

Prenatal testing is optional, so it is important to know about your testing options and make a choice that is right for you. This may involve conversations with your partner, friend or health professional.

• Mostbabiesarebornhealthy.

• Asmallnumberofpregnanciesresultinbabieswith achromosomeproblemsuchasDownsyndrome.

• Chromosomesarestructuresofthebodythatcontain informationthataffectshowthebabydevelops.

• Some,butnotall,chromosomeproblemscanbefound byprenataltestsduringpregnancy.

• Someprenataltestsaremoreaccuratethanothers. Sometestsaresaferthanothers.Eachtestgivesyou informationaboutthehealthofyourbaby.

• Therearetwomaintypesofprenataltestswhichareavailableat differenttimesduringyourpregnancy(seetimelineonthenextpage5):

1 Screening tests - totellyouthe chance or riskthatyour babyhasDownsyndromeorotherchromosomeproblem (pages8to17).

2 Diagnostic tests -to confirmthatyourbabyhasDown syndromeorotherchromosomeproblem(pages18to19).

Prenatal testing timeline

123456789

10111213141516171819202122

Combined First Trimester Screening

Blood test (9-12 weeks)Ultrasound (11-14 weeks)

FIRST TR

IMESTER

(1- 12 WEEK

S)

SCREENING TESTS(to check)

DIAGNOSTIC TESTS(to confirm)

SECON

D TR

IMESTER

(13 - 27 WEEK

S)

Second Trimester Screening

Blood test (14-20 weeks)

Non-Invasive Prenatal Testing (new screening test)Blood test (from 10 weeks)

Amniocentesis(15-19 weeks)

Chorionic Villus Sampling(11-14 weeks)

Start of Pregnancy (number of weeks)

Prenataltestingoptionsfortoyouconsiderduringyourpregnancy.

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Down syndrome• Oneofthemost common chromosomal problems to screenfor inpregnancyisDownsyndrome,alsoknownasTrisomy21. Otherless common problems are also screenedforandarelisted intheAppendix(pages34and35).

• Downsyndromeisageneticconditioncausedbythepresence ofextrachromosome21.

• Onaverage,forallAustralianwomen,thechanceofhavinga babybornattermwithDownsyndromeisabout3in1000.

• ThechanceofhavingababywithDownsyndromeincreases as you get older.But,thereisalsoachancethatyoungwomen canhaveababywithDownsyndrome.Forexample…

- Forwomenintheirtwenties,thechanceofhavingababy bornwithDownsyndromeisabout1in1000.

- Forawomanaged40,thechanceofhavingababyborn withDownsyndromeisabout10in1000.

• ManypregnancieswithDownsyndromeandotherchromosome problemswillmiscarry(losethebaby)earlyinpregnancy.

• PeoplewithDownsyndromehavephysicalfeaturesincommon, suchasaflatnoseandface.But,theyalsolookliketheirparents andfamily.

• SomepeoplewithDownsyndromeneedonlyasmallamount ofmedicalhelp,whileotherswillneedalotofmedicalhelp. Forexample,theymayhavehealthproblemswiththeirstomach, lungs(breathing),andtheirheart.

• EveryonebornwithDownsyndromewillhaveadegreeof learningdisability.Theleveloflearningdisabilitywillbe differentforeachindividual.

On pages 34 and 35, there is information about other less common chromosome problems,

which are also screened for in pregnancy.

With the support and opportunities available, most people with Down syndrome are able to take part in school,

work and social life in the community.

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Prenatal screening tests

• Onthenextfewpageswewilltellyouaboutthedifferenttypes ofscreeningstestsavailableinthefirstandsecondtrimester.

• Screeningtestsjusttellifyourbabyisatincreasedriskornotof havingDownsyndrome.Diagnostictestsareavailabletoconfirm andbecertain(seepages18and19).Aftereachscreeningtest, thereisadotdiagramtoshowyouhow accuratethescreening testsareindetectingDownsyndrome.

Each diagram represents 100 women who are all pregnant with a baby who has Down syndrome. Women carrying a baby with Down syndrome are represented by blue dots in the diagram. The ones missed by the prenatal test are represented as orange dots.

The accuracy of the screening test depends on the type of test and the age of the woman.

Screening tests are more accurate in detecting pregnancies with Down syndrome in women who are older.

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Screening in the first trimester of pregnancy involves a blood test and special ultrasound scan. This is known as Combined First Trimester Screening.Blood test

• Abloodtestbetween9and12 weeksofpregnancy.

• Thistestisoftenreferredtoas maternalserumscreening.

Ultrasound

• Aspecialultrasoundscancalled anuchal translucency,between 11and14weeks.

• Thisscanmeasuresthethickness ofthebaby’sneck.

• Anultrasoundconfirmsthedatethe babyisdue,checkstoseehowthe babyisdeveloping,identifiestwins andiftherehasbeenamiscarriage.

Combined f irst trimester screening

On average, if a pregnant woman has Combined First Trimester Screening:

How accurate is this screening?

Approximately 90 out of 100pregnantwomencarryingababywithDownsyndromewillbefoundbycombinedfirsttrimesterscreening.

Approximately 10 out of 100pregnantwomencarryingababywithDownsyndromewillbemissedbycombinedfirsttrimesterscreening.

A woman’s age, weight, and results of the blood test and ultrasound are combined to tell you the chance of a having a baby with Down syndrome. However, it will not confirm

whether the baby has Down syndrome or not.

Screening tests tell you the chance or risk that your baby has Down syndrome. They do not confirm whether you are carrying a baby with Down syndrome or not. Further diagnostic testing is available to confirm if there is a problem (see pages 18 and 19).

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Screening in the second trimester of pregnancy involves a blood test only.

Blood test

• Abloodtestbetween14to20weeks

• Thistestisalsocalledmaternal serum screening

Ultrasound scan

• Anultrasound(morphologyscan) between18and20weeks.

• Thisscancheckshowthebabyis developing.Itchecksthebaby’sheartbeat anddifferentpartsofthebody,suchasits head,brain,face,chest,stomach,spine, arms,legs,handsandfeet.

• Thissecondtrimesterultrasoundis notrecommendedasascreeningtestforDownsyndrome.

Screening in the second trimesterOn average, if a pregnant woman has second trimester screening (blood test only):

How accurate is this screening?

Approximately 75 out of 100pregnantwomencarryingababywithDownsyndromewillbefoundbysecondtrimesterscreening.

Approximately 25 out of 100pregnantwomencarryingababywithDownsyndromewillbemissedbysecondtrimesterscreening.

Your age, weight and results from the blood test (only) are combined to tell you the chance of a having a baby with Down syndrome. However, results will not confirm

whether the baby has Down syndrome or not. A “low risk” result does not mean no risk.

Second trimester screening is less accurate than Combined First Trimester screening.

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Non-invasive prenatal testing

A new screening test

• Anewtypeofscreeningtest,called‘NonInvasivePrenatal Testing’(NIPTforshort)isnowavailablefromsomeprivate companiesandpublicmaternityhospitalsinAustralia.

• ThisnewscreeningtestinvolvesabloodtesttoscreenforDown syndromeandotherchromosomeproblems(seepages34-35).

• Thebloodtestcanbedone:

- inthefirstorsecondtrimester.

- asearlyas10weeksofpregnancy.

• Thisnewtestisaspecialwaytocheckthe baby’schromosomesthatarefoundinthe mother’sblood.

• Unlikeanultrasoundscan,thisnewscreeningtestdoesnot: - confirmtheduedate - seehowthebabyisdeveloping - identifytwins - findoutiftherehasbeenamiscarriage.

• Thecostofthisnewtestiscurrently between$500–$900,andisnot coveredbypublichospitalsorMedicare.

• Youmaywishtospeakwithyourdoctor, midwifeorgeneticcounselloraboutthis newscreeningtest.Wehavelistedsome questionsonpage26tohelpyou.

On average, if a pregnant woman has Non-Invasive Prenatal Testing (NIPT) – the new screening test:

Non-invasive prenatal testing (NIPT) is a new type of screening blood test for Down syndrome and other chromosome problems. It does not confirm whether you are carrying a baby with Down syndrome or not.

How accurate is this new test?

Approximately 99 out of 100pregnantwomencarryingababywithDownsyndromewillbefoundbythenewbloodtest.

Approximately 1 out of 100pregnantwomencarryingababywithDownsyndromewillbemissedbythenewbloodtest.

Non-invasive prenatal testing is more accurate than first or second trimester screening, but it does not confirm whether

you will have a baby with Down syndrome or not. Further diagnostic testing is available to confirm if there is

a problem (see pages 18 & 19).

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What do the screening results mean?

Thischarthelpsyoutounderstandwhattheprenatalscreeningresultsmaymean,andyouroptionsifyouhavealowriskorincreasedriskscreeningtestresult.

PRENATAl SCREENING

Increased risk

Decisions regarding continuing or ending the pregnancy

Amniocentesis15-19 weeks (see page 19)

Decisions regarding continuing or ending the pregnancy

Chorionic Villus Sampling (CVS) 11-14 weeks (see page 18)

low or no increased risk

This means that you have a lOW RISK OR ChANCE

of having a baby with Down syndrome or other

chromosome problem.

however, some screening tests miss pregnancies with Down syndrome and do not confirm if there is a problem.

Remember that prenatal screening

is optional.

You may decide not to have any

screening.

SCREENING

(tests to tell you the chance or risk of having a baby with

Down syndrome)

DIAGNOSTIC TESTS

(tests to confirm whether you have a baby with Down

syndrome or not)

This means you have a hIGhER ChANCE OR ARE

AT INCREASED RISK of having a baby with

Down syndrome or other chromosome problem.

Depending on the stage in your pregnancy, furthertesting is

available to confirm if there is a problem.

NO SCREENING

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NO FURThER TESTING

having further testing is your decision. You may decide to continue with the pregnancy without further testing.

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Diagnostic testing

Therearetwodiagnostictestsavailable,atdifferentstagesofpregnancy,toconfirmwhetherornotyourbabyhasDownsyndrome:

1.ChorionicVillusSampling(CVS)(11to14weeks)

2.Amniocentesis(15-19weeks)

1. Chorionic Villus Sampling (CVS) (11 to 14 weeks)

• ACVStestinvolvestakingasmallsamplefromthe placenta(anorganjoiningthemotherandbaby,toprovide thebabywithoxygenandfood).

• CVSistheearliestdiagnostictestandcanbedone from11-14weeks.

• Thistestinvolvesadoctorusinganultrasoundto insertafineneedlethroughthewoman’stummy tothewomb(seepicturebelow).

• Thistestmayhavetobe carriedoutthroughthe vaginaiftheposition oftheplacentaprevents thedoctorinsertingthe needlethroughthe woman’stummy.

• Onrareoccasions,the testmayneedtobe doneagain.

2. Amniocentesis (15 to 19 weeks)

• Amniocentesisisthelaterdiagnostictestandcanbe donebetween15-19weeksofpregnancy.

• Thistestinvolvesadoctorinsertingafineneedlethrough thewoman’stummytocollectalittlebitofliquidfrom aroundthebaby(seepicturebelow).

• Thedoctorusesanultrasoundtomakesureheorshedoesnot touchthebabywiththeneedle.Theliquidistestedforproblems.

• Onrareoccasions,thetestmayneedtobedoneagain.

There is a small possibility that you will miscarry (lose the baby) after these tests.

The chance of this happening is approximately 1 in 100, but could be much lower (1 in 1000), especially if you

see an experienced doctor.

womb

FETUS

UlTraSoUnd probEnEEdlE

plaCEnTa

amnioTiC SaC

womb

UlTraSoUnd probEnEEdlE

amnioTiC FlUid- liquid that

surrounds the babyFETUS

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Options after a diagnosis of Down syndrome

• Thereareanumberofoptionstoconsiderifthediagnostic testresultconfirmsthatyouarecarryingababy withDownsyndrome:

- Continuethepregnancy andbecomeaparent.

- Continuethepregnancy andplacethebabyfor adoptionorfostering.

- Endthepregnancy.

• Talkingtoyourmidwife,GPorobstetrician,orseeinga geneticcounsellormayhelpyouandyourpartnermake aninformeddecisionaboutwhattodonext.

Ending the pregnancy

The following information is about ending your pregnancy by having an abortion. Some people might find it upsetting to read.

• Thisisabigdecisionanditisimportantthatyoumakethe rightchoiceforyou.Talktopeopleclosetoyou.Thiscould beyourpartner,familydoctor,obstetrician,midwife,genetic counsellor,orsocialworker.

• Differentpeoplehavedifferentfeelings aboutthis.Somewillnotfeelthesame asyou.Itisoktofeelthewayyoudo.

• Ifyouhaveapartnertheymightnot feelthesameasyou.Itisimportant totalktoeachotherabouthowyou feel.Yourpartner’sfeelingsareoktoo.

• Ifyouchoosetoendthepregnancy,thewayofdoingthiswill dependonhowfaralongyouareinyourpregnancy:

- IfyouhadChorionicVillusSampling(CVS)anditisearlyin thepregnancy,achoiceofamedicalorsurgicalprocedure isavailable.Awomancanusuallygohomethesameday.

- Ifyouhadanamniocentesisanditislaterinthepregnancy, thenyouwillhavetogointolabour,aprocesssimilarto givingbirth.Youwillusuallyhavetostayinthehospital overnightandsometimeslonger.

Continuing the pregnancy

• Ifyouchoosetocontinuewith thepregnancy,youwouldreceive appropriatecounsellingandcare inpreparationforthebirth.

• Evenifyoudecidetocontinuewiththepregnancy,youmay notfeelreadytobringupachildwithDownsyndrome.

• Ifyoudonotfeelready,youcanchoosetohaveyourbaby adoptedorfostered,thismeansthatafteryourbabyisborn, yourbabywouldlivewithanothercouple.

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Summary of prenatal tests

SCREENING TESTS ( to tell you the chance of having a problem)Type/name of the test About the test Risk of miscarriage (losing the baby) Does the test confirm Down syndrome?

Combined First Trimester Screening

Bloodtest(9-12weeks)Ultrasound(11to14weeks)

None No

Non-Invasive Prenatal Testing (NIPT)

Bloodtest(from10weeks) None No

Second trimester screening Bloodtest(14-20weeks) None No

DIAGNOSTIC TESTS (to confirm if there is a problem)Type/name of the test About the test Risk of miscarriage (losing the baby) Does the test confirm Down syndrome?

Chorionic Villus Sampling (CVS)

Aneedlethroughthewoman’stummytocollectasampleoftheplacentatheorganconnectingthewomanandbaby(11-14weeks)

Approximately1in100maymiscarry

Yes

Amniocentesis

Aneedlethroughthewoman’stummytocollectalittlebitofliquidfromaroundthebaby

(15-19weeks)

Approximately1in100maymiscarry

Yes

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Your personal worksheet• Hereisaworksheettohelpyouandyourpartnerthinkabout whetheryouwanttohavescreening.

• Belowaresomereasonstohaveandnottohavescreening. Foreachstatement,putatickintheboxthatcorresponds toyouranswer(yes,noorunsure).

• Remembertherearenorightorwronganswers.

Otherthingsimportanttomydecision(please write here)

Making your decision about the Down syndrome screening

Aftercompletingtheworksheet,howdoyoufeelabouttheDownsyndromescreening?

Iwouldliketohave Downsyndromescreening.

Idonotwanttohave Downsyndromescreening.

Iamunsureabout Downsyndromescreening*.

*IfyouareunsureabouthavingDownsyndromescreening,youmaywishtoreadthroughthebookletagainand/ortalkthroughyourdecisionwithyourpartner,doctor,midwifeorgeneticcounsellor.

Some reasons to have screening YES NO Unsure

IwanttofindoutwhethermybabyhasDownsyndrome,tohelpmefeelbetterprepared.

Iwouldliketodoascreeningtestthatcannotincreasemyriskofhavingamiscarriage

A“lowrisk”resultwouldbereassuring,evenifitdoesnotconfirmthatmybabyhasDownsyndrome.

Iwouldliketohavetheoptionofhavingmoretesting(CVSoramniocentesis)ifmyscreeningresultsshowthatIhaveahigherchanceofhavingababywithDownsyndrome.

IwouldliketohavetheoptionofendingthepregnancyifIfoundoutIwashavingababywithDownsyndrome.

Some reasons to not have screening YES NO Unsure

IthinkmyriskofhavingababywithDownsyndromeislow,sothescreeningtestwouldnotbeusefulforme.

KnowingthatIhadahigherchanceofhavingababywithDownsyndromewouldcausetoomuchanxiety.

Iwouldnotconsiderhavingmoretesting(CVSoramniocentesis)toconfirmwhetherIwashavingababywithaDownsyndrome.

EvenifaCVSoramniocentesistestshowedthatIwashavingababywithDownsyndrome,Iwouldn’tendthepregnancy.

Remember that prenatal screening is optional, so it is important that you make a choice that is right for you.

This may involve conversations with your partner, friend or health professional.

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Writedownanyotherquestionsyoumaywishtoaskandmedicalwordsyouareunsureof.

Questions to ask your health professional

Herearesomequestionsthatyoumightliketoaskyourhealthcareprofessional(GP,midwife,obstetrician,orgeneticcounsellor)aboutprenatalscreeningforDownsyndrome.

prenatal screening tests

• Canyoutellmeabouttheprenatalscreeningtestsavailable inthefirstandsecondtrimester?

• Howaccuratearethedifferentscreeningtestsindetecting Downsyndrome?

• Isonescreeningtestmoreaccuratethanothers?The new screening test• CanyoutellmeaboutthenewscreeningtestforDownsyndrome (non-invasiveprenataltesting,orNIPT)?

• Isthenewscreeningtestavailable?

• Howmuchdoesthenewscreeningtestcost?The test results and what they mean• Whatdoesa‘lowrisk’resultmean?

-Whatdoesan‘increasedrisk’resultmean?

-IfIhavescreening,howwillIreceivetheresults?

• IfIhavescreening,whendoIgettheresults?diagnostic tests•Canyoutellmeaboutthedifferenttypesoffollow-up diagnostictests?

• WhataremyoptionsifIfindoutthereisaproblem ormybabyisn’tdevelopingintheusualway?

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Further information & support services

Camperdown RoyalPrinceAlfredHospitalDepartmentofMolecularandClinicalGeneticsPh:(02)95155080

Kogarah StGeorgeHospitalClinicalGeneticServicePh:(02)91133635

liverpoolLiverpoolHospitalClinicalGeneticsDepartmentPh:(02)87384665

Newcastle HunterGeneticsPh:(02)49853100

Penrith NepeanHospitalClinicalGeneticsDepartmentPh:(02)47343362

Randwick TheSydneyChildren’sHospitalDepartmentofMedicalGeneticsPh:(02)93821704/(02)93821708

St leonards RoyalNorthShoreHospitalDeptofClinicalGeneticsPh:(02)94631727

Westmead WestmeadHospitalDeptofGeneticMedicinePh:(02)98459780

Genetic counselling – major centres in NSW

Camperdown RoyalPrinceAlfredHospitalFetalMedicineUnitPh:(02)95156042

Kogarah StGeorgeHospitalWomen’sandChildren’sHealthPh:(02)91133635

liverpoolLiverpoolHospitalFetalMedicineUnitPh:(02)98285631

Newcastle JohnHunterHospitalMaternalFetalMedicineUnitPh:(02)49214694

Penrith NepeanHospitalPerinatalUltrasoundPh:(02)47342578

Randwick SydneyChildren’sHospitalDepartmentofMedicalGeneticsPh:(02)93821704

Randwick RoyalHospitalforWomenCentreforFetalMedicinePh:(02)93826098

St leonards RoyalNorthShoreHospitalFetalMedicineUnitPh:(02)99267099

Westmead WestmeadHospitalFetalMedicineUnitPh:(02)98456802

Prenatal testing services in NSW

New services are continually being developed. For information on services in other areas and newly developed services, please contact:

The Centre for Genetics Educationlevel 5, 2c herbert Street, St leonards NSW 2065Ph: 02 9462 9599 Fax: 02 9906 7529Email: [email protected]

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Support & information

The Centre for Genetics Education ANSWstate-wideeducationservicewhichhelpspeoplegainaccesstogeneticservicesinNSW.

TheCentreforGeneticsEducationLevel5,2cHerbertStreet,StLeonardsNSW2065Phone:0294629599Fax:0299067529Email:[email protected]:www.genetics.edu.au

Association of Genetic Support (AGSA)Providesinformationandsupporttofamiliesandindividualstosupportfamiliesafteraprenataldiagnosisofabnormality.

Association of Genetic Support of Australasia (AGSA)GarvanInstituteofMedicalResearch,Level6,Room6.39384VictoriaStreet,DarlinghurstNSW2010Phone:0292111462Email:[email protected]:www.agsa-geneticsupport.org.au

Down Syndrome NSWDownSyndromeNSWisacommunitybased,not-for-profitassociationprovidingsupportandinformationtopeoplewithDownsyndromeandtheirfamilies.

7DeedPlace,NorthmeadNSW2152Phone:0298414444Website:www.downsyndromensw.org.au

References

RoyalAustralianandNewZealandCollegeofObstetriciansandGynaecologists(RANZCOG).PrenatalScreeningforFetalAbnormalities.Collegestatement2013.Website:www.ranzcog.edu.au

References

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Medical wordshere are some common words used in pregnancy and prenatal testing.

Abortion Abortionisthetermination(end)ofapregnancy.Alow-risksurgical procedureisgenerallyusedforfirsttrimesterabortions.Medical (non-surgical)abortionsusingmedicationsareavailableinsome clinicsforterminatingpregnanciesearlierthanseventonineweeks.

Amniocentesis AdiagnostictesttoconfirmwhetherornotthebabyhasDown syndrome.Thetestinvolvesadoctorinsertingafineneedlethroughthe woman’stummytocollectalittlebitofliquidfromaroundthebaby.

Amniotic fluid Fluidinwhichthebabyfloatsinthewomb.

Chorionic Villus AdiagnostictesttoconfirmwhetherornotthebabyhasDownSampling (CVS) syndrome.Thetestinvolvesadoctorusinganultrasoundtoinsert afineneedlethroughthewoman’stummytothewomb.

Chromosomes Structuresofthebodythatcontainthebaby’sgenes andaffecthowthebabydevelops

Down syndrome Downsyndrome,alsoknownastrisomy21,isageneticcondition(Trisomy 21) thattypicallycausessomeleveloflearningdisabilityanda characteristicrangeofphysicalfeatures.

Edwards syndrome Edwards’syndrome,alsoknownastrisomy18,isagenetic(Trisomy 18) condition.Mostbabieswiththesyndromearelostduringpregnancy orstillborn.Babieswhosurvivebeyondoneyearwillhavea developmentaldisability.

Fetus Atermusedbyhealthprofessionalstodescribetheeighthweek ofpregnancytothemomentofbirth.Thetermembryomaybe usedbeforeeightweeksofpregnancy.

First Trimester Pregnancyistypicallybrokenintothreeperiods,ortrimesters, eachofaboutthreemonths.Thefirsttrimesterofpregnancyis week1throughweek12.

Genetic counselling Diagnosis,informationandsupportprovidedbyhealthprofessionals, withspecialisedtrainingingeneticsandcounselling.

Genetic Counsellor Anexpertingeneticswhoadvicestheconsequencesandnature ofchromosomedisorders.

Gestation Stageofpregnancydevelopment.

Klinefelter syndrome Klinefelter’ssyndromeisageneticconditionthatonlyaffectsmales. AffectedmalesarebornwithanextraXchromosome.

Maternal serum Abloodtestofferedtopregnantwomenwhowanttofindoutiftheyscreening test maybeatincreasedriskofhavingababywithDownsyndrome. MaternalserumscreeningmaybeofferedaspartofCombined FirstTrimesterScreeningorsecondtrimesterscreening.

Midwife Ahealthcareprofessionalthatprovidescaretowomenduring pregnancy,labour,andbirth.

Miscarriage/miscarry Whenthepregnancy/unbornbabyislost.

Non-invasive Anewtypeofscreeningtestwhichinvolvestakingabloodsampleprenatal testing fromthemother,toscreenforDownsyndromeandotherproblems.chromosome ItlookssmallpiecesofDNAfromtheplacentaandthebabyinthe(NIPT) mother’sblood.Thistestcanbedoneinthefirstorsecond trimester,andasearlyas10weeksofpregnancy.

Nuchal Thefluidundertheskinatthebackofthebaby’sneck.Thisfluidistranslucency whatismeasuredintheCombinedFirstTrimesterScreeningtest.

Obstetrician Adoctorwhoisspeciallytrainedtohelpwomenwiththeirpregnancy.

Patau syndrome Patausyndrome,alsoknownastrisomy13,isaveryrare (Trisomy 13) chromosomeproblem.MostbabieswithPatausyndromearelost duringpregnancy,oronlysurviveforafewdays.

Placenta Sometimescalledthe“afterbirth”.Anorganthatjoinsthemother andbaby,providingthebabywithoxygenandfood.Itisattached tothebabythroughtheumbilicalcord.

Prenatal diagnosis DiagnosticteststoconfirmthatyourbabyhasDownsyndromeor otherchromosomeproblem.ChorionicVillusSampling(CVS)and amniocentesisarebothdiagnostictests.

Prenatal screening Screeningtestscarriedoutinthefirstorsecondtrimestertotell youthechanceorriskthatyourbabyhasDownsyndromeor otherchromosomeproblem.

Second Trimester Thesecondtrimesterisfrom13to27weeksofpregnancy.

Sonographer Ahighlyskilledmedicalprofessionalwhooperatesanultrasound machinetoperformultrasoundscans.

Third Trimester Thethirdtrimesterisfrom28to40weeksofpregnancy.

Trimester Threemonthperiodusedtodescribestagesofpregnancy.

Turner syndrome Turnersyndromeisageneticconditionthatonlyaffectsfemales. Usually,afemalehastwoXchromosomes;infemaleswithTurner’s syndrome,onechromosomeismissingorabnormal

Umbilical cord Theumbilicalcordconnectsababyinthewombtoitsmother. Itrunsfromanopeninginthebaby’sstomachtotheplacenta.

Ultrasound scan Ascanusingsoundwavestocheckthatyourunbornbabyis growinganddevelopingnormally.Blackandwhitepictureof yourunbornbabyonascreenlikeaTV.

Writedownanyothernewwordsyoumayhaveheardaboutprenataltesting:

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Appendix: chromosome problems other than Down syndrome

Prenatal screening also looks for other chromosome problems in pregnancy:

• Edwards syndrome (Trisomy 18)

- BabiesbornwithEdwardssyndromeoftenhaveproblems withtheirheartsandothermedicalconditions.

- ItisrareforababywithEdwardssyndrometosurvive thefirstyearoflife.

- Approximately1outofevery5,000babieshave Edwardssyndrome.

• Patau syndrome (Trisomy 13)

- BabiesbornwithPatausyndromeusuallyhavesevere heartproblemsandothermedicalconditions.

- ItisrareforababywithPatausyndrometosurvive thefirstyearoflife.

- Approximately1outofevery16,000babieshave Patausyndrome.

• Turner’s syndrome (a genetic disorder that affects females)

- Usually,afemalehastwoXchromosomes;infemaleswith Turner’ssyndrome,onechromosomeismissingorabnormal.

- PeoplewithTurner’ssyndromeareusuallyareshortin height,andhaveheartandinfertilityproblems.

- Approximately1inevery2,000femalebabiesareaffected byTurner’ssyndrome.

• Klinefelter syndrome (a genetic disorder that affects males)

- TheaffectedmalehasanadditionalXchromosome.

- TheeffectsofKlinefeltersyndromemayinclude: infertility,reducedtesticlesize,delaysinpuberty andlanguageandlearningproblems.

- Approximately1inevery450malebabies areaffectedbyKlinefeltersyndrome.

Many pregnancies with Down syndrome and other chromosome problems will miscarry

(lose the baby) early in pregnancy.

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AcknowledgementsThisbooklethasbeendevelopedbyateamofresearchersandhealthprofessionalsfromthe:

- PsychosocialResearchGroup, PrinceofWalesClinicalSchool,UNSW,Sydney,Australia

- PublicHealthGenetics, MurdochChildrensResearchInstituteMelbourne,Victoria

- LiverpoolHospital,FetalMedicineUnit,NSW

- RoyalHospitalforWomen,MaternalFetalMedicine,NSW

- SydneyMedicalSchool,UniversityofSydney,NSW

ThedesignofthisbookletwasinformedbytheInternational Patient Decision Aid Standard 2013 guidelines. www.ipdas.ohri.ca

Theinformationinthisbookletiscorrectatthetimeofpublication.Currentprint:2014

ThisbookletwasillustratedbyFionaKatauskasanddesignedbyRelax,www.relaxdesign.com.au

PleasecontactDrSianSmithforfurtherinformationaboutthisbooklet:

PsychosocialResearchGroup,PrinceofWalesClinicalSchool,UNSWAUSTRALIA,SYDNEYNSW2052

Telephone:+61(2)93850024Email:[email protected]:www.powcs.med.unsw.edu.au

ThedevelopmentofthisbookletwassupportedbyagrantfromtheNationalHealthandMedicalResearchCouncilofAustralia,EarlyCareerFellowship(No.1034912)awardedtoDrSianSmith.Thefunderhadnoroleinthedevelopmentanddesignofthisbooklet.


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