Genetic testing for Recurrent Pregnancy Loss
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Genetic testing for Recurrent Pregnancy Loss Provide your patients the best clarity to the underlying causes of miscarriage and plan for future pregnancies. a new life. well planned.
Transcript of Genetic testing for Recurrent Pregnancy Loss
Genetic testing for
RecurrentPregnancy Loss
Provide your patients the best clarity to the underlying causes of miscarriage and plan for future pregnancies.
a new life. well planned.
What is Recurrent Pregnancy Loss (RPL)?
• RPLisdefinedasthreeconsecutivepregnancylossespriorto20weeks fromthelastmenstrualperiod1
• Itisreportedinapproximately1%to2%ofpregnantwomen
• Currenttechniquescanidentifyupto50%ofcouplessufferingfromRPL.2
• Geneticcausesaccountforabout2-5%ofRPL.1
ClariaFrom MedGenomeMedGenomeisdriventoenableclinicianstodeliverthebestoutcomestotheirpatients.Ourpassiontodeliveractionableinsightstoclinicianshasresultedinthedevelopmentof“Claria”-asuiteofNGS(Next-GenerationSequencing)technology-basedsolutionsforreproductivetesting.
ClariaoffersthemostaccurateNon-InvasivePrenatalScreeningTest(NIPT),theGeneticCarrierScreening
TestandthePreimplantationGeneticScreening/Diagnosis(PGS/PGD).
Weunderstandyourtimeisvaluable,andthat’swhyClariahasateamofin-housegeneticcounsellorstohelpyouinterpretandexplainreports.
Additionally,Clariaoffersanabsolutelyfree,on-demandpreandpost-testgeneticcounsellingtoallyourpatients.
40%-50%UnexplainedIncludingNon-APSThrombophilias
0.5%-5%Infections
20%Autoimmune
10%-15%Anatomicfactors
2%-5%Genetic factors
17%-20%Endocrinefactors
1.FordHB,SchustDJ.Recurrentpregnancyloss:etiology,diagnosis,andtherapy.RevObstetGynecol2009;2:76-83.
• 30%to50%ofallmiscarriagesareduetocytogeneticreasons3
• 2%to4%ofRPLisassociatedwithaparentalbalancedstructuralchromosomerearrangement,mostcommonlybalancedreciprocalorRobertsoniantranslocations1
• Otherreasonsincludechromosomalinversions,insertions,andmosaicism1
POCtestingwasdoneearlierusingKaryotypingandFISH.AttheMedGenomeCenterforGeneticHealthcareweofferthefollowingPOCtests:
*FISHisonlyperformedasareflextestforPOCsamples,ifcellculturefails.
Consistsoftestingtheproductsofconceptionand/ortheparentswithappropriatepreandpost-testgeneticcounselling.
POCtestingcandetectwhetherthepregnancyhadanabnormalchromosomenumber(aneuploidy)thatmighthavecausedamiscarriage.TheinformationfromPOCtestingcanbehelpfulforpatientsandphysicianstounderstandthecauseofmiscarriageandtodevelopaplantosupportafuturesuccessfulpregnancy.
About5%ofcoupleswithRPLhavebeenknowntocarryRobertsoniantranslocationsandbalancedreciprocaltranslocations.Boththespecificchromosome(s)affectedandthetypesofrearrangementinfluencetheprobabilityofafuturelivebirth.
Conventionalkaryotypingcanbeusedinsuchcases.Standardmethodcandetectmostchromosomalabnormalities.Preandpost-testgeneticcounsellingareessential.4
• Anycouplewhohaveapregnancylosswithfetalabnormalities
• Coupleswhohavehadamiscarriage
• Coupleswithrecurrentpregnancyloss
• CouplesundergoingIVFwhohavehaverepeatedmiscarriage
What is Products of Conception(POC) testing?
Genetic testing for RPL
Who should undergo POC testing?
What are the cause of RPL? How is POC testing done?
Parental Karyotype Testing
Test name Specimen type Methedology TAT(Working days)
POCalltrimester+FISH(7probes)
Minimum20mgofProductsofConceptioninsterilecontainerinRPMI1640+1%Antibiotic.Cardiac/CordorcordbloodinSodiumHeparinVacutainer
Karyotyping+FISH*
15
POC-1sttrimester
POC-2ndtrimester
POC-2ndand3rdtrimestercord/cardiacblood
References:
1.FordHB,SchustDJ.Recurrentpregnancyloss:etiology,diagnosis,andtherapy.RevObstetGynecol2009;2:76-83.
2.JaslowCR,CarneyJL,KuttehWH.Diagnosticfactorsidentifiedin1020womenwithtwoversusthreeormorerecurrentpregnancylosses.FertilSteril.2010;93(4):1234–43.
3.OgasawaraM,AokiK,OkadaS,etal.Embryonickaryotypeofabortusesinrelationtothenumberofpreviousmiscarriages.FertilSteril.2000;73:300–304
4.ReganL,BackosM,RaiR.2011.Green-topGuidelineNo17.Theinvestigationandtreatmentofcoupleswithrecurrentfirst-trimesterandsecond-trimestermiscarriage.RoyalCollegeofObstetriciansandGynaecologists(RCOG),London.
Alsoprovide3mlofmaternalwholebloodinaEDTAvaccutainerfor
MaternalCellContaminationcheck.
Minimum100mgof ProductofConception(POC)
Takeninasterile15mlfalcontubeeitherinasalinesolution+1%antibioticor
RPMI1640+10%FBS+1%antibiotic
Formalinfixedor degradedsamples willnotbeaccepted
RecentlyPOCtestingisbeingperformedusingmoleculartestssuchasChromosomalMicroarray.ClariaPOCtestingisdoneusingtheAffymetrixOptimaChromosomalMicroarray(CMA)
• Nocellcultureisnecessary
• Highlysensitiveplatformwith>99%sensitivityfordetectionof chromosomaldeletion/duplications
• Thearrayhaswholegenomecoverageandincreasecoverage targeting396regionsrelevantforprenatalanalysis(18,018CNVand 148,450SNP)
• Increasedcoveragedensity(25markers/100kb)in396empirically selectedregionsrelevantforprenatalresearch
• ItcandetectlowlevelsofMosaicisminthesample
• Aminimumresolutionof1MBforlosses,2MBforgains,and5MBfor LOH/AOH(Loss/AbsenceofHeterozygosity)
POC using Chromosomal Microarray (CMA)
Advantages of using CMA
Test sample requirement
MedGenomeLabsLtd.3rdFloor,NarayanaNetralayaBuilding,NarayanaHealthCity,#258/A,Bommasandra,HosurRoad,Bangalore–560099
Bangalore|Chennai|Kochi|Mumbai|Delhi
Toll free no: 1800 103 3691
www.medgenome.com | [email protected]
Claria from MedGenome offers the complete range of Reproductive Testing solutions
Non-Invasive Prenatal
Screening Test
Carrier Screening
Test
Pre-implantation Genetic Screening/
DiagnosisPOC/RecurrentPregnancy
Loss Testing
PrenatalDiagnostics
CytogeneticTesting
