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1、Medical Genetics20 遗传咨询Genetic CounselingMedical GeneticsGenetic counseling is the process evaluatingfamilyhistoryandmedicalrecordsorderinggenetictestsevaluatingtheresultsofthisinvestigationhelpingparentsunderstandandreachdecisionsaboutwhattodonextMedical GeneticsGenetictestsaredonebyanalyzingsmalls
2、amplesofbloodorbodytissues.Theydeterminewhetheryou,yourpartner,oryourbabycarrygenesforcertaininheriteddisorders.Medical Genetics1.GeneticCounselorsGeneticcounselorsarehealthprofessionalswithspecializedgraduatedegreesandexperienceintheareasofmedicalgeneticsandcounseling.Medical GeneticsMostenterthefi
3、eldfromavarietyofdisciplines,includingbiology,genetics,nursing,psychology,publichealthandsocialwork.Medical GeneticsGeneticcounselorsworkasmembersofahealthcareteam,providinginformationandsupporttofamilieswhohavememberswithbirthdefectsorgeneticdisordersandtofamilieswhomaybeatriskforavarietyofinherite
4、dconditions.Medical GeneticsTheyidentifyfamiliesatrisk,investigatetheproblempresentinthefamily,interpretinformationaboutthedisorder,analyzeinheritancepatternsandrisksofrecurrence,andreviewavailableoptionswiththefamily.Medical GeneticsGeneticcounselorsalsoprovidesupportivecounselingtofamilies,serveas
5、patientadvocates,andreferindividualsandfamiliestocommunityorstatesupportservices.Medical GeneticsTheyserveaseducatorsandresourcepeopleforotherhealthcareprofessionalsandforthegeneralpublic.Medical GeneticsSomecounselorsalsoworkinadministrativecapacities.Manyengageinresearchactivitiesrelatedtothefield
6、ofmedicalgeneticsandgeneticcounseling.Medical Genetics2.WhoShouldSeeOneMostcouplesplanningapregnancyorwhoareexpectingdontneedgeneticcounseling.Medical GeneticsAbout3%ofbabiesarebornwithbirthdefectseachyear,accordingtotheU.S.CentersforDiseaseControlandPrevention-andofthemalformationsthatdooccur,themo
7、stcommonarealsoamongthemosttreatable.Medical GeneticsCleftpalateandclubfoot,twoofthemorecommonbirthdefects,canbesurgicallyrepaired,ascanmanyheartmalformations.Medical GeneticsThebesttimetoseekgeneticcounselingisbeforebecomingpregnant,whenacounselorcanhelpassessyourriskfactors.Butevenafterhebecomepre
8、gnant,ameetingwithageneticcounselorcanstillbehelpful.Medical GeneticsForexample,severalbabieshavebeendiagnosedwithspinabifidabeforebirth.Recentresearchsuggeststhatdeliveringababywithspinabifidaviacesareansectioncanminimizedamagetothebabysspine-andperhapsreducethelikelihoodthatthechildwillneedawheelc
9、hair.Medical GeneticsYoushouldconsidergeneticcounselingifanyofthefollowingriskfactorsapplytoyou:(1)ifastandardprenatalscreeningtest(suchasthealphafetoproteintest)yieldsanabnormalresult(2)ifanamniocentesisyieldsanunexpectedresult(suchasachromosomaldefectintheunbornbaby)Medical Genetics(3)ifeitherpare
10、ntoracloserelativehasaninheriteddiseaseorbirthdefect(4)ifeitherparentoracloserelativehasaninheriteddiseaseorbirthdefect(5)ifeitherparentalreadyhaschildrenwithbirthdefectsorgeneticdisordersMedical Genetics(6)ifthemother-to-behashadtwoormoremiscarriagesorbabiesthatdiedininfancy(7)ifthemother-to-bewill
11、be35orolderwhenthebabyisbornMedical GeneticsChancesofhavingachildwithDownsyndromeincreasewiththemothersage:a35-year-oldwomanhasaonein350chanceofconceivingachildwithDownsyndrome.Thischanceincreasestoonein110byage40andonein30byage45.Medical Genetics(8)ifparentsareconcernedaboutgeneticdefectsthatoccurf
12、requentlyintheirethnicorracialgroupMedical GeneticsForexample,couplesofAfricandescentaremostatriskforhavingachildwithsicklecellanemia;couplesofcentraloreasternEuropeanJewish(Ashekenazi),Cajun,orIrishdescentmaybecarriersofTay-Sachsdisease;andcouplesofItalian,Greek,orMiddleEasterndescentmaycarrythegen
13、eforthalassemia,aredbloodcelldisorder.Medical Genetics3.WhattoExpectDuringaVisitBeforehemeetwithageneticcounselorinperson,youllbeaskedtogatherinformationabouthisfamilyhistory.Medical GeneticsThecounselorwillwanttoknowofanyrelativeswithgeneticdisorders,multiplemiscarriages,andearlyorunexplaineddeaths
14、.Medical GeneticsThecounselorwillalsowanttolookoverhismedicalrecords,includinganyultrasounds,prenataltestresults,pastpregnancies,andmedicationshemayhavetakenbeforeorduringpregnancy.Medical GeneticsIfmoretestsarenecessary,thecounselorwillhelphimsetupthoseappointmentsandtrackthepaperwork.Whentheresult
15、scomein,thecounselorwillcallhimwiththenews.Often,thecounselorwillencouragehimtocomeinforadiscussion.Medical GeneticsThecounselorwillstudyhisrecordsbeforemeetingwithhim,sohecanmakethebestuseofhistimetogether.Duringhissession,heorshewillgooveranygapsorpotentialproblemareasinhisfamilyormedicalhistory.M
16、edical GeneticsThecounselorcanthenhelphimunderstandtheinheritancepatternsofanypotentialdisordersandhelpassesshischancesofhavingachildwiththosedisorders.Medical GeneticsHeorshewilldistinguishbetweenrisksthateverypregnancyfacesandrisksthathepersonallyfaces.Evenifhediscovershehasaparticularproblemgene,
17、sciencecantalwayspredicttheseverityoftherelateddisease.Forinstance,achildwithcysticfibrosiscanhavedebilitatinglungproblemsor,lesscommonly,milderrespiratorysymptoms.Medical Genetics4.AfterCounselingHeandhisfamilywillhavetodecidewhattodonext.Geneticcounselorshelphimtounderstandhisoptionsandadjusttothe
18、difficultiesanduncertaintieshefaces.Medical GeneticsIfhehaslearnedpriortoconceptionthatheand/orhispartnerareathighriskforhavingachildwithasevereorfataldefect,hisoptionsmightinclude:pre-implantationdiagnosisusingdonorspermordonoreggsadoptionMedical GeneticsIfhehasreceivedaprenataldiagnosisofasevereor
19、fataldefect,hisoptionsmightinclude:preparinghimselfforthechallengesyoullfacewhenhehaveyourbabyfetalsurgerytorepairthedefectbeforebirthendingthepregnancyMedical GeneticsForsomefamilies,knowingthattheyllhaveaninfantwithasevereorfatalgeneticconditionseemstoomuchtobear.Otherfamiliesareabletoadapttothene
20、ws-andtothebirth-remarkablywell.Medical GeneticsGeneticcounselorscansharetheexperiencestheyvehadwithotherfamiliesinyoursituation.Buttheywillnot suggestaparticularcourseofaction.Medical GeneticsAgoodgeneticcounselorunderstandsthatwhatisrightforonefamilymaynotberightforanother.Medical GeneticsGeneticc
21、ounselorscan,however,referhetospecialistsforfurtherhelp.Forinstance,manybabieswithDownsyndromearebornwithheartdefects.Medical GeneticsThecounselormightencouragehimtomeetwithacardiologisttodiscussheartsurgery,andaneonatologisttodiscussthecareofapost-operativenewborn.Medical GeneticsGeneticcounselorscanalsoreferhetosocialworkers,supportgroups,ormentalhealthprofessionalstohelpheadjusttoandprepareforyourcomplexnewreality.