The role of ultrasound in women who undergocell-fr

Theroleofultrasoundinwomenwhoundergocell-freeDNAscreeningSocietyforMaternal-FetalMedicine(SMFM)withtheassistanceofMaryE.Norton,MD;JosephR.Biggio,MD;JeffreyA.Kuller,MD;SeanC.Blackwell,MDThepracticeofmedicinecontinuestoevolve,andindividualcircumstanceswillvary.Thispublicationreflectsinformationavailableatthetimeofitssubmissionforpublicationandisneitherdesignednorintendedtoestablishanexclusivestandardofperinatalcare.ThispublicationisnotexpectedtoreflecttheopinionsofallmembersoftheSocietyforMaternal-FetalMedicine.Theintroductionofcell-freeDNAscreeningforaneuploidyintoobstetricpracticein2011revolutionizedthestrategiesutilizedforprenataltesting.Thepurposeofthisdocumentistoreviewthecurrentdataontheroleofultrasoundinwomenwhohaveundergoneorareconsideringcell-freeDNAscreening.ThefollowingareSocietyforMaternal-FetalMedicinerecommendations:(1)inwomenwhohavealreadyreceivedanegativecell-freeDNAscreeningscreen,ultrasoundat11e14weeksofgestationsolelyforthepurposeofnuchaltranslucencymeasurement(CurrentProceduralTerminologycode76813)isnotrecommended(grade1B);(2)werecommendthatdiagnostictestingshouldnotberecommendedtopatientssolelyfortheindicationofanisolatedsoftmarkerinthesettingofanegativecell-freeDNAscreen(grade2B);(3)inwomenwithanisolatedsoftmarkerwithoutotherclinicalimplications(ie,choroidplexuscystorechogenicintracardiacfocus)andanegativecell-freeDNAscreen,werecommenddescribingthefindingasnotclinicallysignificantorasanormalvariant(grade2B);(4)inwomenwithanisolatedsoftmarkerthathasnootherclinicalimplication(ie,choroidplexuscystorechogenicintracardiacfocus)andanegativefirst-orsecond-trimesterscreeningresult,werecommenddescribingthefindingasnotclinicallysignificantorasanormalvariant(grade2B);(5)werecommendthatallwomeninwhomastructuralabnormalityisidentifiedbyultrasoundshouldbeoffereddiagnostictestingwithchromosomalmicroarray(grade1A);and(6)werecommendagainstroutinescreeningformicrodeletionswithcell-freeDNAscreening(grade1B).Keywords:aneuploidyassessment,aneuploidyscreening,cell-freeDNAscreening,nuchaltrans-lucencymeasurement,serummarkers,ultrasoundTheintroductionofcell-freeDNA(cfDNA)screeningforaneuploidyintoobstetricpracticein2011revolution-izedthestrategiesutilizedforprenataltesting.TheAmericanCollegeofObstetriciansandGynecologists(ACOG)andtheSocietyforMaternal-FetalMedicine(SMFM)bothrecom-mendthatallwomenshouldbeofferedtheoptionofaneuploidyscreeningordiagnostictestingforfetalgeneticdisorders.1Themostrecentguidanceaddressingthisissuesuggeststhattraditionalscreeningwithserummarkersandnuchaltranslucencymeasurementremainsthemostappropriateoptionforlow-riskpatients,2,3whileinwomenathigherriskforcommonaneuploidies,cfDNAscreeningmaybemoreaccuratefordetectingtheseaneuploidies.Inaddition,SMFMhasstatedthatbecauseoftheethicsofpatientautonomy,afterappropriategeneticcounselingregardingthebenefitsandlimitationsofcfDNAscreening,thisoptionshouldbeavailabletowomenwhorequestadditionaltestingbeyondwhatiscurrentlyrecommendedbyprofes-sionalsocieties.4ThenumberofdifferentscreeningandtestingoptionshasleftmanyobstetriccareproviderswithquestionsabouthowtoincorporatecfDNAscreeningintotraditionalapproachestoscreening.ThepurposeofthisdocumentistoreviewthecurrentdataontheroleofultrasoundinwomenwhohaveundergoneorareconsideringcfDNAscreening,acknowl-edgingthatprospectiveevidenceislimited.Correspondingauthor:SocietyforMaternal-FetalMedicine:[e-mail].9,2017.B2MARCH2017SocietyforMaternal-FetalMedicine(SMFM)ConsultSeriesI#42smfm.orgWhatistheroleofnuchaltranslucencymeasurementinwomenwhoplantohave,orhavealreadyhad,cfDNAscreeningandreceivedanegativeorlow-riskresult?WiththeintroductionandincreasinguseofcfDNAscreening,thequestionhasarisenastothevalueoffirst-trimesternuchaltranslucency(NT)ultrasoundevaluationinpatientswhohavechosencfDNAinsteadoftraditionalaneuploidyscreening.WhilecfDNAscreeningisveryaccuratefortrisomies21,18,and13andpotentiallysomesexchromosomeaneuploidies,thesetestsdonotprovideinformationonotherchromosomalaberrationsthatmightbeidentifiedwithconventionalfirst-andsecond-trimesterscreeningorthemorecomprehensivegeneticinformationprovidedbydiagnostictesting.3WhiletheprecisemeasurementoftheNTisnotrequiredforaneuploidyriskestimationwhencfDNAscreeningisperformed,suchassessmentpriortocfDNAscreening,especiallyinahigher-riskpopulation,affordswomeninwhomanenlargedNTisidentifiedtheoptiontoproceeddirectlytodiagnostictesting.WhileanenlargedNThasbeenassociatedwithotheraneuploidies,ithaslimitedutilityinthedetectionofchromosomalabnormalitiesotherthantrisomies21,18,and13becauseoftheiroveralllowerprevalenceaswellaslowersensitivityfortheseotherconditions.5AnincreasedNThasbeenassociatedwithstructuralanomalies,neuromusculardisorders,andavarietyofothergeneticconditions.Ithasbeennotedthatimagingthefetusat11e14weeksofgestation(first-trimesterultrasound[CurrentProceduralTerminology][CPT]code76801)pro-videsanearlyopportunitytoevaluatethepregnancyandtopotentiallyidentifyafetusatriskforadditionalgeneticorstructuralabnormalities.Onestudyreportedon17