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20遺傳咨詢GeneticCounseling Geneticcounselingistheprocessevaluatingfamilyhistoryandmedicalrecordsorderinggenetictestsevaluatingtheresultsofthisinvestigationhelpingparentsunderstandandreachdecisionsaboutwhattodonext Genetictestsaredonebyanalyzingsmallsamplesofbloodorbodytissues Theydeterminewhetheryou yourpartner oryourbabycarrygenesforcertaininheriteddisorders 1 GeneticCounselors Geneticcounselorsarehealthprofessionalswithspecializedgraduatedegreesandexperienceintheareasofmedicalgeneticsandcounseling Mostenterthefieldfromavarietyofdisciplines includingbiology genetics nursing psychology publichealthandsocialwork Geneticcounselorsworkasmembersofahealthcareteam providinginformationandsupporttofamilieswhohavememberswithbirthdefectsorgeneticdisordersandtofamilieswhomaybeatriskforavarietyofinheritedconditions Theyidentifyfamiliesatrisk investigatetheproblempresentinthefamily interpretinformationaboutthedisorder analyzeinheritancepatternsandrisksofrecurrence andreviewavailableoptionswiththefamily Geneticcounselorsalsoprovidesupportivecounselingtofamilies serveaspatientadvocates andreferindividualsandfamiliestocommunityorstatesupportservices Theyserveaseducatorsandresourcepeopleforotherhealthcareprofessionalsandforthegeneralpublic Somecounselorsalsoworkinadministrativecapacities Manyengageinresearchactivitiesrelatedtothefieldofmedicalgeneticsandgeneticcounseling 2 WhoShouldSeeOne Mostcouplesplanningapregnancyorwhoareexpectingdon tneedgeneticcounseling About3 ofbabiesarebornwithbirthdefectseachyear accordingtotheU S CentersforDiseaseControlandPrevention andofthemalformationsthatdooccur themostcommonarealsoamongthemosttreatable Cleftpalateandclubfoot twoofthemorecommonbirthdefects canbesurgicallyrepaired ascanmanyheartmalformations Thebesttimetoseekgeneticcounselingisbeforebecomingpregnant whenacounselorcanhelpassessyourriskfactors Butevenafterhebecomepregnant ameetingwithageneticcounselorcanstillbehelpful Forexample severalbabieshavebeendiagnosedwithspinabifidabeforebirth Recentresearchsuggeststhatdeliveringababywithspinabifidaviacesareansectioncanminimizedamagetothebaby sspine andperhapsreducethelikelihoodthatthechildwillneedawheelchair Youshouldconsidergeneticcounselingifanyofthefollowingriskfactorsapplytoyou 1 ifastandardprenatalscreeningtest suchasthealphafetoproteintest yieldsanabnormalresult 2 ifanamniocentesisyieldsanunexpectedresult suchasachromosomaldefectintheunbornbaby 3 ifeitherparentoracloserelativehasaninheriteddiseaseorbirthdefect 4 ifeitherparentoracloserelativehasaninheriteddiseaseorbirthdefect 5 ifeitherparentalreadyhaschildrenwithbirthdefectsorgeneticdisorders 6 ifthemother to behashadtwoormoremiscarriagesorbabiesthatdiedininfancy 7 ifthemother to bewillbe35orolderwhenthebabyisborn ChancesofhavingachildwithDownsyndromeincreasewiththemother sage a35 year oldwomanhasaonein350chanceofconceivingachildwithDownsyndrome Thischanceincreasestoonein110byage40andonein30byage45 8 ifparentsareconcernedaboutgeneticdefectsthatoccurfrequentlyintheirethnicorracialgroup Forexample couplesofAfricandescentaremostatriskforhavingachildwithsicklecellanemia couplesofcentraloreasternEuropeanJewish Ashekenazi Cajun orIrishdescentmaybecarriersofTay Sachsdisease andcouplesofItalian Greek orMiddleEasterndescentmaycarrythegeneforthalassemia aredbloodcelldisorder 3 WhattoExpectDuringaVisit Beforehemeetwithageneticcounselorinperson you llbeaskedtogatherinformationabouthisfamilyhistory Thecounselorwillwanttoknowofanyrelativeswithgeneticdisorders multiplemiscarriages andearlyorunexplaineddeaths Thecounselorwillalsowanttolookoverhismedicalrecords includinganyultrasounds prenataltestresults pastpregnancies andmedicationshemayhavetakenbeforeorduringpregnancy Ifmoretestsarenecessary thecounselorwillhelphimsetupthoseappointmentsandtrackthepaperwork Whentheresultscomein thecounselorwillcallhimwiththenews Often thecounselorwillencouragehimtocomeinforadiscussion Thecounselorwillstudyhisrecordsbeforemeetingwithhim sohecanmakethebestuseofhistimetogether Duringhissession heorshewillgooveranygapsorpotentialproblemareasinhisfamilyormedicalhistory Thecounselorcanthenhelphimunderstandtheinheritancepatternsofanypotentialdisordersandhelpassesshischancesofhavingachildwiththosedisorders Heorshewilldistinguishbetweenrisksthateverypregnancyfacesandrisksthathepersonallyfaces Evenifhediscovershehasaparticularproblemgene sciencecan talwayspredicttheseverityoftherelateddisease Forinstance achildwithcysticfibrosiscanhavedebilitatinglungproblemsor lesscommonly milderrespiratorysymptoms 4 AfterCounseling Heandhisfamilywillhavetodecidewhattodonext Geneticcounselorshelphimtounderstandhisoptionsandadjusttothedifficultiesanduncertaintieshefaces Ifhehaslearnedpriortoconceptionthatheand orhispartnerareathighriskforhavingachildwithasevereorfataldefect hisoptionsmightinclude pre implantationdiagnosisusingdonorspermordonoreggsadoption Ifhehasreceivedaprenataldiagnosisofasevereorfataldefect hisoptionsmightinclude preparinghimselfforthechallengesyou llfacewhenhehaveyourbabyfetalsurgerytorepairthedefectbeforebirthendingthepregnancy Forsomefamilies knowingthatthey llhaveaninfantwithasevereorfatalgeneticconditionseemstoomuchtobear Otherfamiliesareabletoadapttothenews andtothebirth remarkablywell Geneticcounselorscansharetheexperiencesthey vehadwithotherfamiliesinyoursituation Buttheywillnotsuggestaparticularcourseofaction Agoodgeneticcounselorunderstandsthatwhatisrightforonefamilymaynotberightforanother Geneticcounselorscan however referhetospecialistsforfurtherhelp Forinstance manybabieswithDownsyndromeare

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