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 | diagnostics@medgenome.com

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