NIPT (safeT21, Panorama, Harmony, NIFTY)
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Non-invasive Prenatal Screening or Testing. safeT21, T21 Express, NIFTY PRO, Panorama, Harmony, Faest. Booking telephone: 23682333. We are panel list clinic ...
FeminaHealthcare
NIPT(safeT21,Panorama,Harmony,NIFTY)
四維超聲波產前診斷中心FeminaHealthcare4DUltrasound,PrenatalDiagnosis&TreatmentCentre尖沙咀堪富利士道8號格蘭中心704-706 室(尖沙咀港鐵站A2出口)Suite704-706,GrandCentre,8,HumphreyAvenue,TsimShaTsui(TSTMTRA2Exit)23682333
Non-invasivePrenatalScreeningorTesting
safeT21,T21Express,NIFTYPRO,Panorama,Harmony,Faest
Bookingtelephone:23682333
WearepanellistclinicfortheAmericanConsulate,AustralianConsulate&TeachersUnion.
Westrivetoensureyouhaveahealthybaby. Wecare,weprovidevariousrangeofaccurateNIPTtosuityourneed.
FeminaHealthcareisestablishedin2008.Thecompanyhasservedmorethan100,000womensinceestablishment.Thevisionofthecompanyistoprovidegreatqualityhealthcareproductsandservices atreasonablepricetowomen.Thisvisionwillenablemanymorewomentoaffordgreatqualityhealthcareproductsandservices.婦健醫療中心成立於2008年。
自成立以來,該公司已為100,000多名婦女提供服務。
公司的願景是以合理的價格為女性提供優質的保健產品和服務。
這一願景將使更多婦女能夠負擔得起高質量的保健產品和服務。
Thereisnohiddencost(allinclusive,doctorfee,scan,bloodtestandlaboratoryfee),weDONOTchargeextra!
NEWService:7weeksNIPT(earliestscreening);+screeningforpre-eclampsia(+$1000);SinglebloodtubeforNIPTand100genecarrierscreening
NIFTYPRO$4400,NIFTYPROPlus $4800/4400andsafeT21,T21Express $4900/$6500(optionofpackagewith20weeksscan).
Moreinformation: NIFTYPRO & NIFTYPROPlus; safeT21Express
safeT21express,NIFTYPROPlus,Panorama,G-NIPT,FAEST,Harmony,Verifi(PreneticV)(From$2900onward!)
G-NIPT,GCPharma,oneofSouthKorealargestBioPharmacologycompany
FurtherdiscountisavailableonMonday,FridayandSaturday.Wecanalsoprovidenuchaltranslucency(NT)screeningtogetherwithNIPT,packagewithmid-trimesterscan.
FeminaoffersmanychoicesofNIPT,haslowcostvalueaddedbrand,sellallmajorinternationalbrands,noextracostifinterchangebetweenbrand,andpriceinclusiveofultrasoundanddoctorconsultation.
Femina offersmanydifferentNIPTpricefrom$2900andabove.Only$2900canguarantee thatyouwillnothaveDownsyndromebaby.
TheaccuracyfordetectingDownsyndromeandcommonchromosomeabnormalitiesarethesameforallbrands(extensiveresearchdone).
NuchalTranslucencyassessmentisessentialinfetalscreening.
IncaseofoneNIPTcannotissueresult,youcanchangetoanotherbrandwithnoextracharge.
RISKofDownsyndrome:20yearsold1in1000;30yearsold2in1000;40yearsold10in1000.
Riskofcommonmicrodeletion1in2000orless.
RiskofgeneticdisordersnotdetectedbyNIPT 2-50in1000
VistaraandgenesafecandetectdeNovomutations,occursin2in1000abnormalbabies(from$8000).
NIPT(safeT21&NIFTY)canscreenforDownsyndrome,geneticdisordersneedtodoothertests(carrierscreening,Vistaraetc).
Verifi,Faest,Harmony,PanoramaallhasCollegeofAmericanPathology(CAP)certifiedLaboratories.
WearethefewclinicsinHongKongofferwiderangeofhighqualityoverseaNIPTswithCAPcertifications
NIFTY&safeT21expressareperformedinHongKongprivatelaboratories(notUniversity,asmostlymistaken).
NIFTYPRO$4400.ALLNEWNIFTYPRO+,$4800/4400checkallchromosomes
FurtherdiscountisavailableonMonday,FridayandSaturday.Wecanalsoprovidenuchaltranslucency(NT)screeningtogetherwithNIPT,packagewithmid-trimesterscan.
WeofferFragileX,X-linkeddisordersandautosomalrecessivescreening.
NEW:RhesusDNIPT(UKNICEguideline),avoidunnecessaryanti-DandMadCowdisease.40%ofmotherscanavoidinjection$4900.
ALLbrandshavesameaccuracyforDownsyndrome.
Panoramafrom$3900/4500;Extended$4900/5500(price$6000/$8000)
Faest$3000/3500(KoreanlargestBio-Technologycompany$5000)
Additionaloptions:doctorperformingscan,nuchaltranslucencymeasurement,antenatalbloodtest,carriertest,singlegenemutation
1.DoIneedNIPT?NIPTismoreaccurateandhaslessfalseresults.
NIPTdetects>99%ofDownsyndrome,comparedwithOSCAR85%.
2.HowtochoosethebestNIPTforme?
a)ForDownSyndrome:
IfonlyforDownsyndrome,Faest,Harmony,Panoramawillbesufficient.Cheaperbutasaccuratethanmorecomplexpanels.MostO&Gcolleges(AMCOG,RCOG&RANZCOG,SMFM)recommendscreeningforDownsyndromeandnotmicrodeletionsyndromes.
ALLBRANDShavethesameaccuracyfordetectingDownsyndrome(Allbrandsdetectionrate,accuracy>99%).
Cheapestbrandisnotdifferentfrommostexpensiveone.LikePradaandcheaphandbagcanalsohelpyoutocarryyourpersonalbelongings.
https://www.smfm.org/publications/193-cell-free-dna-screeninghttps://obgyn.onlinelibrary.wiley.com/doi/10.1002/pd.5216https://s3.amazonaws.com/cdn.smfm.org/publications/224/download-491f0e6962960848d2097447ab57a024.pdf
b)Forcommonmicrodeletionssyndrome(Notcommon,lessthan1in2000):
Mostcommonmicrodeletionis22q11(DiGeorgesyndrome,1in2000to4000,othersareveryrare)
StandardsafeT21,Panorama,orVerifi.
safeT21,Harmony&Verifidetect75%ofcommonmicrodeletionsyndromeandPanoramadetects>90%.
https://www.sciencedirect.com/science/article/pii/S0002937814023746
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5825123/
https://www.sciencedirect.com/science/article/pii/S1028455918302808
https://www.karger.com/Article/Fulltext/484317
Commonmicrodeletionsyndromesoccur1in2000babies.
3.Ifyouwantmostcomprehensive
safeT21Advancepanel,NIFTYPRO,GenesafeorVerifi-Extend.
safeT21advancepanelscreensformostconditions.
BEWARE:Allthesetestsarenotvalidates,thuslikelytohavehighfalsenegativeandfalsepositiveresults(wrongresults).
Overall1in100babiesmayhavenumbercopyvariants,NIPTcanscreenoutabout20=30%.
Comparisonofitems:Genesafecomplete>AdvancedsafeT21>NIFTYPRO>Verifi
4.Accuracyofsexdeterminationdependsonpanel
Harmony,Faest,safeT21,Panorama(>99.5%);Verifi&NIFTY(>98%).
FACTSaboutNIPT(s):
Not100%accurate.
ForDownsyndrome,allbrandscandetect>99%ofDownsyndrome
ForTrisomy13&18(Patau&Edwardsyndromes),differentbrandshavedifferentaccuracy.
NIPTtestsDNAfromchorionicvillus,andincountingmethod,alsotestsmothers’DNA.
Morecomplexpanelwillresultinmorefalsepositive,asitpicksupabnormalDNAfromplacentaandmothers(upto5/1000).
Abnormalresultneedstobeconfirmedbyinvasiveprenatalprocedure(i.e.amniocentesis).
NuchalTranslucency(NT)shouldbeassessed,asitcandetectotherfetalabnormalities.
Fetus/babywithNT>3.5mm,shouldhaveCVSoramniocentesis,riskofmicrodeletionisincreased.EvenadvancesafeT21canonlydetectlessthan30%ofmicrodeletionsyndromes.
Generalinformationofchromosomeabnormality:
1.RiskofDownsyndromeandcommonaneuploidydependonthemotherage.
A20yearsoldladyhas1in1000chanceofhavingDownsyndromebaby.Thisincreasesto1in300at30yearsoldand1in100at40yearsold.
2.Riskofmicrodeletiondoesnotchangewithpatientage.Overall1in100,butonlylessthan30%canbedetectedbyNIPT.
Mostcommonmicrodeletionis22q11(1in2000-4000cases).
3.Riskofsexchromosomeabnormalityisaround2-5in1000cases.
NIPTformicrodeletionsyndromes
MajorityofmicrodeletionandduplicationsyndromescannotbedetectedbyNIPT.Evenmostadvancedpanel(NIFTYPROorsafeT21)canonlydetectlessthan25%ofcopynumbervariants.Ifthereareindications,prenatalinvasivetestingshouldbeperformed.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3351230/table/table1-0022155412440001/
AmericanCollegeofObstetricians&Gynecologists(ACOG),AmericanMedicalGeneticSociety,andSocietyofMaternalandFetalMedicineadviceAGAINSTscreeningformicrodeletionwithNIPT.UsingNIPTtoscreenformicrodeletionwillincreaseunnecessaryinvasivetestingwithverylowpositivepredictivevalue.Italsoprovidesfalsereassurance,aslessthan25%ofcopynumbervariantscanbedetected.
ACOG:“Routinecell-freeDNAscreeningformicrodeletionsyndromesshouldnotbeperformed.”
https://www.contemporaryobgyn.net/obstetrics/acog-guidelines-glance-screening-fetal-aneuploidy
https://journals.lww.com/greenjournal/Fulltext/2015/09000/Committee_Opinion_No__640__Cell_Free_Dna_Screening.51.aspx
4.Sexdetermination(gender)
Harmony,Faest,safeT21,Panorama(>99.5%);Verifi&NIFTY(>98%).
COMPANYINFORMATION
safeT21,Xcelom(subsidiaryof BerryGenomics,Beijing,China).
NIFTYPRO,BGI,HongKong(subsidiaryof BGI Shenzhen,China).
Panorama,Natera,California,UnitedStatesofAmerica.
Harmony,Roche,UnitedStatesofAmerica.
Verifi,Illumina, UnitedStatesofAmerica.
Faest,Macrogen,SouthKorea(worldno6largestBiotechnologycompany)
Genesafe, Eurofin,Europe(oneofthelargestBiotechnologycompanyinEurope;UK,NetherlandandItaly).
KeymessagesandQ&Adocumentforwomen
WhatarethekeymessagesforwomenfromthisRoyalCollegeofObstetrician&Gynecologists(RCOG)ScientificImpactPaper?
Non-invasivePrenatalTesting(NIPT)usesanordinarymaternalbloodsampleandcarriesnorisktothemotherorherbaby.
NIPTusesfetalDNAfromtheplacentaandismuchmoreaccuratethanpreviousscreeningtests.Itdoesnothavetherisksofthecurrentinvasivetests,whichcarryasmallbutsignificantriskofmiscarriageandwillbeneededmuchlessoften.
Itisalreadybeingusedforsomeconditions,however,itisbecomingaprimaryscreeningmethodforchromosomalabnormalities,suchasDownsyndrome,inpregnancy.
Thehighdegreeofaccuracy,however,meansthatpregnantwomenmaybeinformedoffindingsofuncertainsignificance,suchasplacentalmosaicism,whenthereisadiscrepancybetweenthechromosomalmakeupofthecellsintheplacentaandthecellsinthebaby,whichcanresultinahealthypregnancy,however,insomepregnanciesitcanleadtocomplications.
Excellentcommunicationbetweenwomenandhealthprofessionalsisthereforeessentialtounderstandingtheimplicationsofthetestresultsandfamiliesneedpre-testinformationandsupportforinformeddecisionmaking.
Q&A
1.Whatisthedifferencebetweeninvasiveandnon-invasiveprenataltesting?
Invasiveprenataltestingsuchasamniocentesisinvolvesneedlesbeinginsertedintotheuterustodetectchromosomalabnormalities.Thismethodcarriesasmallbutsignificantriskofmiscarriage.
Non-invasiveprenataltestingisanewtechniquethatusesDNAfromthebabypresentinapregnantwoman’sbloodfromearlypregnancyandisamuchmoreaccurateformofscreeningforanumberoffetaldisorders,suchasDownsyndrome.Itisobtainedviaanordinarybloodtestfromthemother.
2.Whatisnon-invasiveprenataltestingcurrentlyusedfor?
Obstetricianscurrentlyusenon-invasiveprenataltestingtoguidewomenwhosebabyisatriskofhaemolyticdiseaseofthefetusandnewborn(HDFN),aconditionwhereantibodiesdevelopinapregnantwoman’sbloodandsubsequentlydestroythebloodcellsofthebabysheiscarrying.
Itisalsousedforfetalsexdeterminationinpregnanciesathighsex-linkedgeneticrisk,suchasDuchennemusculardystrophy,aninheritedconditionwhichaffectsthemuscles,causingmuscleweakness.
InsomepartsoftheworldandintheUKintheprivatesector,NIPTisnowavailabletodetectDownsyndromeandotherchromosomalabnormalities.
3.Whattypeofconditionswillnon-invasiveprenataltestingscreenfor?
Non-invasiveprenataltestingisabletodetectthebaby’sbloodgroup,sex-linkeddiseases,andchromosomalabnormalities.Thereisthepotentialforothergeneticconditionstobedeterminedinthisway.
4.Howaccurateisnon-invasiveprenataltesting?
Non-invasiveprenataltestingishighlyaccurate.However,possiblesourcesoferrorincludethetestbeingundertakentooearly(before10weeks),orduetomaternalobesity.
Furthermore,thetestresultdoesnotpredicttheseverityoftheabnormalityandfurthertestingmaybenecessary.
5.Arethereanyriskstothemotherandbabyifnon-invasiveprenataltestingisconducted?
Non-invasiveprenataltestingcarriesnorisktomotherorbaby.Thesamplerequiredisanordinarybloodtesttakenfromthemother.
6.Atwhatstageofthepregnancywouldnon-invasiveprenataltestingbeconducted?
Non-invasiveprenataltestingshouldbeconductedafter10weeksofpregnancy.Ifthetestiscarriedoutbefore10weekstheremaybeinsufficientfetalDNAcirculatinginthemother’sbloodtocarryoutthetest.
7.HowisNIPTdifferentfromthecombined/triple/quadrupletest?
Althoughbothtestsinvolveasampleofmaternalblood,NIPTanalysesthecell-freeDNAinthemother’sblood,whereasthecombinedandquadrupletestanalysesthemother’shormonelevels.Withmorethan99%accuracy,NIPTismoreaccuratethanthefirsttrimestercombinedtestorsecondtrimesterquadrupletestforestimatingthechanceortheriskthatthebabyhasDownsyndrome.
‘NIPTismoreaccuratethanthecombinedorquadrupletestforestimatingtheriskofDownsyndrome’
8.WhatresultscanwegetfromNIPTforDownsyndrome?
TherearethreepossibleresultsfromNIPTforDownsyndrome:
Positive:PredictedtobeaffectedbyDownsyndrome.Aninvasivetestshouldbeofferedtoconfirmtheresult.
Negative:HighlyunlikelytobeaffectedbyDownsyndrome.
Inconclusive:Inconclusiveresultshappeninupto1-2%ofcases.ThisisusuallybecausetheproportionoffetalDNApresentinthesampleisnothighenoughtogiveanaccurateresult.NIPTmayberepeatedwiththehopethatthecffDNAlevelswillhaveincreasedduetotheincreasedgestation.
NIPTdetectsaround98-99%ofallbabieswithDown,EdwardsandPatausyndromes.
9.Whyaretheresultsnot100%accurate?
Bothpositiveandnegativeresultsmaybeinaccurateduetothefollowingreasons:
Falsepositives
Theseoccurinaround0.3%ofcases(or1in300).Possiblecausesoffalsepositiveresultsinclude:
Whenusedearlyinpregnancy,cell-freeDNAfroma‘vanishingtwin’maybepresent,astheplacentacontinuestoshedfetalDNAafterembryonicdemise.Ascanisneededtolookformultiplepregnanciesoranemptysacpriortothetest.
Thecell-freefetalDNAcomesfromtheplacenta,andweknowthatsometimesthereare‘celllines’thatgrowintheplacentabutnotthebaby.Thisiscalled‘confinedplacentalmosaicism’causingafalsepositiveresult,whichreflectsanabnormalcelllinethatisonlypresentintheplacentabutnotpresentinthebaby.
Veryoccasionally,becausewearetestingallthecell-freeDNAinthemother’sblood(thisincludesthemother’sandthebaby’sDNA),wemaydetectaproblemthatispresentinthemotherbutnotthebaby.
Falsenegatives
NIPTdetectsmorethan98-99outof100ofallbabieswithDown,EdwardsandPatausyndromes.Possiblecausesoffalsenegativeresultsinclude:
TheproportionoffetalDNApresentinthebloodistoolow.Thismaybeduetoearlygestationortothemother’sBMIbeinghigh.Ascanisneededtoconfirmgestationpriortothetest.
Thecell-freefetalDNAcomesfromtheplacenta,andweknowthatsometimesthereare‘celllines’thatgrowintheplacentabutnotthebaby.Thiscancauseafalsenegativeresultifanabnormalcelllineisonlypresentinthebabybutnotintheplacenta.
Technicalissues.
‘NIPTdetectsmorethan98-99outof100babieswithDownsyndrome’
10.Whatsupportisavailable?
Followingthenon-invasivetest,iftheresultshowsanabnormality,thewomanwouldbeofferedfurthertestingtore-confirmthediagnosis.Ateamofobstetriciansandmidwiveswouldprovidethenecessarycounsellingandadviceforfamilies.
11.WherecanIfindmoreinformationaboutnon-invasiveprenataltesting?
TheRAPIDresearchprogrammehasaguidetonon-invasiveprenataltesting:
http://www.rapid.nhs.uk/guides-to-nipd-nipt/introduction/
PublicHealthEnglandhasfurtherinformationonnon-invasiveprenataltestingforDownSyndrome:
http://fetalanomaly.screening.nhs.uk/programmestatements
FeminaHealthcareWebsite(willupdate)
NIPTwebsite(willupdate)
12.WherecanIfindoutmoreaboutcurrentscreening?
CurrentlyallpregnantwomenintheUKareofferedatestforfetalanomalies,includingDownSyndrome,aspartofTheNHSFetalAnomalyScreeningProgramme(NHSFASP).
MoreinformationonthecurrentfetalanomalyscreeningprogrammecanbefoundontheNHSFASPwebsite:http://fetalanomaly.screening.nhs.uk/testsabout.
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