产前诊断先天性畸形及遗传病

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1、PrenatalDiagnosisforCongenitalMalformationsandGeneticDisordersDaljitSingh,MBBS,MS,DSc,ProfessorEmeritis,DepartmentofOphthalmology,GuruNanakDevUniversity,Amritsar,India;Director,DaljitSinghEyeHospitalJaiRupSingh,PhD,FirstViceChancellor,CentralUniversityofP

2、unjab,Bathinda,India;VanitaVanita,MSc,PhD,Reader&Head,CentreforGeneticDisorders,GuruNanakDevUniversity,Amritsar,Punjab,IndiaUpdated:Apr9,2010IntroductionCongenitalabnormalitiesaccountfor20-25%ofperinataldeaths.Now,manygeneticandotherdisorderscanbediagnose

3、dearlyinpregnancy.Prenataldiagnosisusesvariousnoninvasiveandinvasivetechniquestodeterminethehealthof,theconditionof,oranyabnormalityinanunbornfetus.Thesetechniquesareoutlinedbelow.NoninvasivetechniquesFetalvisualizationoUltrasoundoFetalechocardiographyoM

4、agneticresonanceimaging(MRI)oRadiographyScreeningforneuraltubedefects(NTDs)–Measuringmaternalserumalpha-fetoprotein(MSAFP)ScreeningforfetalDownsyndromeoMeasuringMSAFPoMeasuringmaternalunconjugatedestriolMeasuringmaternalserumbeta-humanchorionicgonadot

5、ropin(HCG)Separationoffetalcellsfromthemother'sbloodInvasivetechniquesFetalvisualizationoEmbryoscopyoFetoscopyFetaltissuesamplingoAmniocentesisoChorionicvillussampling(CVS)oPercutaneousumbilicalbloodsampling(PUBS)oPercutaneousskinbiopsyOtherorganbiops

6、ies,includingmuscleandliverbiopsyPreimplantationbiopsyofblastocystsobtainedbyinvitrofertilizationCytogeneticinvestigationsoDetectionofchromosomalaberrationsoFluorescentinsituhybridizationMoleculargenetictechniquesoLinkageanalysisusingmicrosatellitemar

7、kersoRestrictionfragmentlengthpolymorphisms(RFLPs)oSinglenucleotidepolymorphisms(SNPs)DNAchipDNADynamicallele-specifichybridization(DASH)NoninvasiveTechniquesFetalvisualizationUltrasoundUltrasoundisanoninvasiveprocedureforimagingfetalanatomy.Itisharmles

8、stoboththefetusandthemother.Ultrasoundcanevaluategestationalage,aswellasidentifytwins;fetalposition;placentallocation;fetalgrowth,development,andmovement;andanystructuralbirthdefects.Italsocanassessamnioticfluidvolu