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Page 1: Your questions answered about non invasive prenatal test (nipt) scans

YourquestionsansweredaboutNon-InvasivePrenatalTest(NIPT)Scans

Whenyou’repregnantyoujustwanttoknowthatyourbabyisgoingtobeokay.Theearlierthiscanbeconfirmedbyatestthebetterforeveryoneconcerned,andifthereisminimalriskofmiscarriageevenmoreso.Althoughdiagnosticinvasivetestssuchasamniocentesis(whereasampleofamnioticfluidisextractedfromtheamnioticsacsurroundingyourbabyviaaneedle)cantellyouwhetheryourbabyhascertainchromosomalabnormalities,thetestalsocarriesariskofmiscarriage(aroundonein150womenwillmiscarryafteramniocentesis)andcanonlybeperformedwhenyouhavereached16weeks.ANonInvasivePrenatalTestScan(NIPTScan)Thegoodnewsisthatanewpregnancybloodtest–notcurrentlyavailableontheNHS–isnowavailableprivatelywhichis98percentaccurateindetectingDown’sSyndrome,achromosomalabnormalitywhichhappensbychanceatconceptionandcauseslearningdifficultiesandphysicalhealthproblems.TheHarmony™bloodtestcanalsodetectotherchromosomalabnormalitiesincludingEdwards’,Turners’andPatay’sSyndromes.TheHarmony™bloodtestandNIPTscancanbeperformedfromjust10weeksafterconception,andtheresultsareavailableintwoweeks.Furthermore,becauseitisanon-invasiveprenataltest,thereisnoriskofmiscarriage.Thetestworksbyanalysingfragmentsofyourbaby’sDNA(acomplexchemicalthatcarriesgeneticinformation)thatcirculateinyourbloodalongwithyourownDNA.Thismaterialiscalledcell-freefetalDNA,isfirstdetectableataround4-5weeksofpregnancy,andcomesfromyourplacenta.Itdoesn’treachsufficientconcentrationstobeabletogiveyouanaccurateresultuntil10weeks,though.AtUltrasoundDirectweoffertheHarmony™bloodtestinconjunctionwitha30-minutediagnosticscantochecktheviabilityofyourpregnancy(your

Page 2: Your questions answered about non invasive prenatal test (nipt) scans

baby’sheartbeat)andfetalgrowthagainstdates.ThispackageiscalledtheNonInvasivePrenatalTest(NIPT)Scanandcosts£499.WeperformtheNIPTscanbeforethebloodtesttocheckthepregnancyisviableassometimesDNAfragmentscontinuetocirculateevenifthefetusisnolongeralive.Itcanbeperformedanytimebetween10and22weeks.AspartoftheNIPTscanpackagewealsooffera4DFREEVIEW™isaNoCostOption(availablefrom12weeks)atnoextracost.We’llshowyouyourbabyinlive4DfromtheAvailableViews*duringyourchosenscanwithyouanduswillalsoreceivethermalblackandwhite3Dscanprintstotakehome.WhattheHarmony™bloodtestresultscantellyouWetakeabloodsample,whichissentofffortesting,andtheresultscomebackintwoweeks.YouwillbetoldthatthefetalDNAtestresultiseither:Positive:Thismeansthere’sahigh-predictedchanceofyourbabyhavingDown’sSyndrome.Youwillneedamniocentesistoconfirmit.Negative:HighlyunlikelythatyourbabywillbeaffectedbyDown’sSyndromeoranyoftheotherchromosomalabnormalitiestestedforandfurthertestsarenotusuallyneededor;Inconclusive:Aninsufficientsampleofcell-freeDNAwasextractedinthebloodsample(thishappensinabout4-5percentofcases–thetestcanberedoneatnoadditionalcharge).DecidingifyouwanttheHarmony™testThinkcarefullyaboutwhetheryouwanttoknowifthereisaproblemwithyourbaby’shealthbeforeyouhavethepregnancybloodtestandaboutwhatyouwoulddo.Tohelpyoumakeupyourmind,youcancontactthecharityAntenatalResultsandChoices.

Page 3: Your questions answered about non invasive prenatal test (nipt) scans

ThemainadvantagesofHarmony™canbesummarizedas:Performedfrom10weeks–sixweeksearlierthanamniocentesis.Noriskofmiscarriageassociatedwithit.It’snotinvasiveandnotanuncomfortableproceduresuchasamniocentesis.Tellsyouthesexofyourbabyifperformedat16weeks.Thelimitationsofthebloodtestare:It’snotadiagnostictest,itcan’tgiveyouadefiniteyesornoansweraboutwhetheryourbabyhasDown’sSyndrome,althoughstudieshaveshownaccuracyisaround98percent.Ifyougetaresult,whichfindsyouareat,highriskofhavingaDown’sbabyyouwillstillneedamniocentesistoconfirmit.SometimesnotenoughDNAiscapturedinthebloodsampletogetanaccurateresultandthetesthastoberepeated.WhilstHarmony™canbeusedintwins,iftheresultispositivethetestcan’ttellyouwhichtwinisaffected.NotasaccurateinwomenwhohaveahighBodyMassIndex(BMI)becausetheyhavetoomuchoftheirownDNAcirculatingintheirbloodstream.TobookaNIPTscanwithUltrasoundDirectBirmingham


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a new era in prenatal testing - Genomic Diagnosticsgenomicdiagnostics.com.au/wp-content/uploads/2016/03/Generation... · Non-Invasive Prenatal Testing (NIPT) ... or Klinefelter syndrome

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