医学遗传学 20遗传咨询eng v.ppt

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1、Medical Genetics医学遗传学 20遗传咨询eng v Still waters run deep.流静水深流静水深,人静心深人静心深 Where there is life,there is hope。有生命必有希望。有生命必有希望Medical GeneticsGenetic counseling is the process evaluatingfamilyhistoryandmedicalrecordsorderinggenetictestsevaluatingtheresultsofthisinvestigationhelpingparentsunderstandandr

2、eachdecisionsaboutwhattodonextMedical GeneticsGenetictestsaredonebyanalyzingsmallsamplesofbloodorbodytissues.Theydeterminewhetheryou,yourpartner,oryourbabycarrygenesforcertaininheriteddisorders.Medical Genetics1.GeneticCounselorsGeneticcounselorsarehealthprofessionalswithspecializedgraduatedegreesan

3、dexperienceintheareasofmedicalgeneticsandcounseling.Medical GeneticsMostenterthefieldfromavarietyofdisciplines,includingbiology,genetics,nursing,psychology,publichealthandsocialwork.Medical GeneticsGeneticcounselorsworkasmembersofahealthcareteam,providinginformationandsupporttofamilieswhohavemembers

4、withbirthdefectsorgeneticdisordersandtofamilieswhomaybeatriskforavarietyofinheritedconditions.Medical GeneticsTheyidentifyfamiliesatrisk,investigatetheproblempresentinthefamily,interpretinformationaboutthedisorder,analyzeinheritancepatternsandrisksofrecurrence,andreviewavailableoptionswiththefamily.

5、Medical GeneticsGeneticcounselorsalsoprovidesupportivecounselingtofamilies,serveaspatientadvocates,andreferindividualsandfamiliestocommunityorstatesupportservices.Medical GeneticsTheyserveaseducatorsandresourcepeopleforotherhealthcareprofessionalsandforthegeneralpublic.Medical GeneticsSomecounselors

6、alsoworkinadministrativecapacities.Manyengageinresearchactivitiesrelatedtothefieldofmedicalgeneticsandgeneticcounseling.Medical Genetics2.WhoShouldSeeOneMostcouplesplanningapregnancyorwhoareexpectingdontneedgeneticcounseling.Medical GeneticsAbout3%ofbabiesarebornwithbirthdefectseachyear,accordingtot

7、heU.S.CentersforDiseaseControlandPrevention-andofthemalformationsthatdooccur,themostcommonarealsoamongthemosttreatable.Medical GeneticsCleftpalateandclubfoot,twoofthemorecommonbirthdefects,canbesurgicallyrepaired,ascanmanyheartmalformations.Medical GeneticsThebesttimetoseekgeneticcounselingisbeforeb

8、ecomingpregnant,whenacounselorcanhelpassessyourriskfactors.Butevenafterhebecomepregnant,ameetingwithageneticcounselorcanstillbehelpful.Medical GeneticsForexample,severalbabieshavebeendiagnosedwithspinabifidabeforebirth.Recentresearchsuggeststhatdeliveringababywithspinabifidaviacesareansectioncanmini

9、mizedamagetothebabysspine-andperhapsreducethelikelihoodthatthechildwillneedawheelchair.Medical GeneticsYoushouldconsidergeneticcounselingifanyofthefollowingriskfactorsapplytoyou:(1)ifastandardprenatalscreeningtest(suchasthealphafetoproteintest)yieldsanabnormalresult(2)ifanamniocentesisyieldsanunexpe

10、ctedresult(suchasachromosomaldefectintheunbornbaby)Medical Genetics(3)ifeitherparentoracloserelativehasaninheriteddiseaseorbirthdefect(4)ifeitherparentoracloserelativehasaninheriteddiseaseorbirthdefect(5)ifeitherparentalreadyhaschildrenwithbirthdefectsorgeneticdisordersMedical Genetics(6)ifthemother

11、-to-behashadtwoormoremiscarriagesorbabiesthatdiedininfancy(7)ifthemother-to-bewillbe35orolderwhenthebabyisbornMedical GeneticsChancesofhavingachildwithDownsyndromeincreasewiththemothersage:a35-year-oldwomanhasaonein350chanceofconceivingachildwithDownsyndrome.Thischanceincreasestoonein110byage40andon

12、ein30byage45.Medical Genetics(8)ifparentsareconcernedaboutgeneticdefectsthatoccurfrequentlyintheirethnicorracialgroupMedical GeneticsForexample,couplesofAfricandescentaremostatriskforhavingachildwithsicklecellanemia;couplesofcentraloreasternEuropeanJewish(Ashekenazi),Cajun,orIrishdescentmaybecarrier

13、sofTay-Sachsdisease;andcouplesofItalian,Greek,orMiddleEasterndescentmaycarrythegeneforthalassemia,aredbloodcelldisorder.Medical Genetics3.WhattoExpectDuringaVisitBeforehemeetwithageneticcounselorinperson,youllbeaskedtogatherinformationabouthisfamilyhistory.Medical GeneticsThecounselorwillwanttoknowo

14、fanyrelativeswithgeneticdisorders,multiplemiscarriages,andearlyorunexplaineddeaths.Medical GeneticsThecounselorwillalsowanttolookoverhismedicalrecords,includinganyultrasounds,prenataltestresults,pastpregnancies,andmedicationshemayhavetakenbeforeorduringpregnancy.Medical GeneticsIfmoretestsarenecessa

15、ry,thecounselorwillhelphimsetupthoseappointmentsandtrackthepaperwork.Whentheresultscomein,thecounselorwillcallhimwiththenews.Often,thecounselorwillencouragehimtocomeinforadiscussion.Medical GeneticsThecounselorwillstudyhisrecordsbeforemeetingwithhim,sohecanmakethebestuseofhistimetogether.Duringhisse

16、ssion,heorshewillgooveranygapsorpotentialproblemareasinhisfamilyormedicalhistory.Medical GeneticsThecounselorcanthenhelphimunderstandtheinheritancepatternsofanypotentialdisordersandhelpassesshischancesofhavingachildwiththosedisorders.Medical GeneticsHeorshewilldistinguishbetweenrisksthateverypregnan

17、cyfacesandrisksthathepersonallyfaces.Evenifhediscovershehasaparticularproblemgene,sciencecantalwayspredicttheseverityoftherelateddisease.Forinstance,achildwithcysticfibrosiscanhavedebilitatinglungproblemsor,lesscommonly,milderrespiratorysymptoms.Medical Genetics4.AfterCounselingHeandhisfamilywillhav

18、etodecidewhattodonext.Geneticcounselorshelphimtounderstandhisoptionsandadjusttothedifficultiesanduncertaintieshefaces.Medical GeneticsIfhehaslearnedpriortoconceptionthatheand/orhispartnerareathighriskforhavingachildwithasevereorfataldefect,hisoptionsmightinclude:pre-implantationdiagnosisusingdonorsp

19、ermordonoreggsadoptionMedical GeneticsIfhehasreceivedaprenataldiagnosisofasevereorfataldefect,hisoptionsmightinclude:preparinghimselfforthechallengesyoullfacewhenhehaveyourbabyfetalsurgerytorepairthedefectbeforebirthendingthepregnancyMedical GeneticsForsomefamilies,knowingthattheyllhaveaninfantwitha

20、severeorfatalgeneticconditionseemstoomuchtobear.Otherfamiliesareabletoadapttothenews-andtothebirth-remarkablywell.Medical GeneticsGeneticcounselorscansharetheexperiencestheyvehadwithotherfamiliesinyoursituation.Buttheywillnot suggestaparticularcourseofaction.Medical GeneticsAgoodgeneticcounselorunde

21、rstandsthatwhatisrightforonefamilymaynotberightforanother.Medical GeneticsGeneticcounselorscan,however,referhetospecialistsforfurtherhelp.Forinstance,manybabieswithDownsyndromearebornwithheartdefects.Medical GeneticsThecounselormightencouragehimtomeetwithacardiologisttodiscussheartsurgery,andaneonatologisttodiscussthecareofapost-operativenewborn.Medical GeneticsGeneticcounselorscanalsoreferhetosocialworkers,supportgroups,ormentalhealthprofessionalstohelpheadjusttoandprepareforyourcomplexnewreality.