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CARDIFF HEALTHCARE INTERNATIONAL PERSPECTIVES Case 7 By Zann Yeo Brought to you by: TITLE OF PRESENTATION Topics Covered Presentation Outline 1. BasicAnatomy ofthe Uterus 2. Embryology 3. Antenatal Screening 4. FamilyHistoryand Probabilities What you need to What CHIPS can do do in Year 2 to help S2 4 PT (30%) • Case Revision • 125 questions Session for each • Final Medical School Exam Cases • Revision : Use PassMed • Mock S2 before S2 (30%) your exams • 140 questions • Year 1 and Year 2 Content ISCE • Peerwise and Lectures • ISCE Teaching • Mock ISCE before ISCE (40%) your exams • 6 Stations • Examinations, History, Clinical Skills and Data Interpretation • Practice with Friends/Geeky MedicsBasic Anatomy Fimbriae • Fingerlike projections at the ends of the fallopian tubes The Fallopian Tube • Helps the non-motile egg to enter into the Fallopian Tube Infundibulum • Widest part of the Fallopian Tube Ampulla • Longest part of the Fallopian Tube • Fertilization occurs here • Most common site for ectopic pregnancies Isthmus • Opens up into the uterine hornBasic Anatomy Broad Ligament • Extends from the uterus to the pelvic walls Ligaments of the Uterus Round Ligament • Keeps the uterus anteverted • (Tilted Forward at the Cervix) Ovarian Ligament • Lateral Uterus to the Ovaries Suspensory Ligament • Continuation of the ovarian ligament • Contains o Ovarian Artery o Ovarian Vein o Nerve PlexusEmbryologyWhat layer of the Ovum hardens to prevent polyspermy during fertilization? A Zona Pellucida B Corona Radiata C Theca Externa D Theca Intima E CytoplasmWhat layer of the Ovum hardens to prevent polyspermy during fertilization? A Zona Pellucida B Corona Radiata C Theca Externa D Theca Intima E Cytoplasm Fertilization ProcessesduringFertilization • Capacitation • Functionalchangeattheacrosomeregion wherebyproteinsarelostandspermis conditioned • AllowthepenetrationofCoronaRadiata • AcrosomeReaction • Surfaceantigensandenzymesontheacrosome regionisactivated • AllowthepenetratetheZonaPellucida • CorticalReaction • TheZonaPellucidahardensandpreventsthe entryofmoresperm • Preventspolyspermy/triploidyFunctionofFertilization • Restore DiploidNumber n->2n • SexDetermination XXorXY • Cleavage MitosisTheStoryBegins…… SolidballofCells Hollow sphereof resultingfromdivisiocells offertilizedovum Embryoblast Outer Cell MassWhat layer is the Endoderm made up from? A Epiblast B Hypoblast C Amniotic Cavity D Yolk Sac E Primitive StreakWhat layer is the Endoderm made up from? A Epiblast B Hypoblast C Amniotic Cavity D Yolk Sac E Primitive StreakGastrulation Blastula →Gastrula Bilaminar Embryo → TrilaminarDisc Hypoblast+Epiblast → Ectoderm+Mesoderm +Endoderm 1. Epiblastmigrate downthroughtheprimitive grooveandreplacethe hypoblastintotheendoderm 2. Epiblastcellsmigrate downagainandforwardbutabovethe endodermtoformthemesoderm 3. Epiblastthentransformsintotheectoderm Neurulation ● Formationofthebrainandspinalcord(CNS) ● InductiveEvent:NotochordFormation ● Start:NeuralPlateFormation ● End:NeuralTubeCloses 1. Notochordreleasesgrowth factors 2. Causes ectodermalproliferation 3. Formationofthe neural plate 4. Neural platefuse tofromthe neural tube 5. Neural tube movesunderneath the ectoderm PrimaryNeurulation OuterEctoderm →Skin Neural CrestCell → PNS Neural Tube → CNS Jordanistryingtodesignanew toothpasteforlittlebabies.Toadvertise histoothpastehewantstoknowwhat germlayerteethenamelismadeupof. A Ectoderm B Mesoderm C Endoderm Jordanistryingtodesignanew toothpasteforlittlebabies.Toadvertise histoothpastehewantstoknowwhat germlayerteethenamelismadeupof. A Ectoderm B Mesoderm C EndodermGermLayers Layer Ectoderm Mesoderm Endoderm What CNS andEverythingoutside Mostthingsinsideus Linings ofourorgans ofourbodies Examples • SkinCells • CardiacMuscle • AlveolarCells • Neurons • SkeletalMuscle • ThyroidCells • TeethEnamel • Tubule Cells • DigestiveCells • Retina • RedBloodCells • Brain • SmoothMuscle • SpinalCordSomitogenesis ● Formation ofPaired BlocksofMesodermonthe Embryo Sclerotome ■ Cartilage oftheaxial skeleton Myotome ■ Muscles ofthe ribcage,limbs andback Dermatome ■ Connective tissues ofthedermisAntenatalScreeningA patient is 4 months pregnant and has a family history of Down Syndrome. She is concerned about the risk of her baby being born with Down Syndrome, so wishes to be screened for it. Which test would be the most appropriate for her? A Nuchal TranslucencyTest B QuadrupleTest C Combined Test D Foetal AbnormalityScan E Wait for baby to be bornA patient is 4 months pregnant and has a family history of Down Syndrome. She is concerned about the risk of her baby being born with Down Syndrome, so wishes to be screened for it. Which test would be the most appropriate for her? A Nuchal TranslucencyTest B QuadrupleTest C Combined Test D Foetal AbnormalityScan E Wait for baby to be born ScreeningTest Test CombinedTest QuadrupleTest Timing 11–13Weeks 15–20Weeks Markers • Beta-hCG • Beta-hCG (MaternalBloodTest) • PAPP-A • AFP • uE3 • InhibinA Additional NuchalTranslucency (Ultrasound) Cannotbedoneifobese DownSyndrome Beta-hCG PAPP-A InhibinA uE3 AFP Fluid ofthebabies neckis measured (>3.5mm)At what risk of obtaining a baby with Down Syndrome will then a diagnostic test be performed? A 1/50 B 1/100 C 1/150 D 1/200 E 1/250At what risk of obtaining a baby with Down Syndrome will then a diagnostic test be performed? A 1/50 B 1/100 C 1/150 D 1/200 E 1/250 AmniocentesisVsChronicVillus Sampling Diagnostic Test • Offeredonly when morethan 1/150 chance ofDown Syndrome Amniocentesis Chronic Villus Sampling Sampling amnioticfluid fromthe amniotSuctiontube toremovefetalcellsfromthe sac using aneedle chorion Weeks 16-22 Weeks 10-12 1%Risk ofMiscarriage >1% Risk ofMiscarriage Non-Invasive Prenatal Diagnosis (NIPD) • Usesasample ofmaternal blood • Check foetalDNA inmaternalblood • No risk ofmiscarriage • Not doneregularly asitisexpensiveFamilyHistoryand ProbabilitiesMrs X has a genetic counseling appointment after her genetic test. She is told that she is at risk of a disease that has the following characteristics. • Incomplete Penetrance • Variable Expression What disease could she be at risk of? A AngelmanSyndrome B Haemophilia A C Huntington’sDisease D Cystic Fibrosis E Sickle CellMrs X has a genetic counseling appointment after her genetic test. She is told that she is at risk of a disease that has the following characteristics. • Incomplete Penetrance • Variable Expression What disease could she be at risk of? A AngelmanSyndrome B Haemophilia A C Huntington’sDisease D Cystic Fibrosis E Sickle CellFeatures AutosomalDominant ● MultipleGenerations ● MaletoMaletransmissionseen ● 50%offspringrisk AutosomalRecessive ● Parentsareasymptomatic carriers ● Usually1generationaffected ● Commoninconsanguineous families Sex-Linked • Usuallyonlymen affected • FemaleareasymptomaticcarriersEquations Autosomal Dominant SexLinked ● Penetrancex½ • MotherAffected • 50%ofchildren ○ Penetrance=The likelihood ofthe willbeaffected diseaseshowing • FatherAffected AutosomalRecessive • 100%of daughters ● DadCarrierRiskx affectedandno MomCarrierRiskx1/4 sonsaffectedJames and Carol are expecting a child. James sister is affected by Wilson’s Disease. This is a rare autosomal recessive disease affecting 1/40,000 people. James himself is healthy and his wife is not a blood relative with no family history of the disease. What is the probability the expecting couples child will be affected by Wilson’s Disease? A 1/12 B 1/4 C 1/600 D 1/300 E 1/200James and Carol are expecting a child. James sister is affected by Wilson’s Disease. This is a rare autosomal recessive disease affecting 1/40,000 people. James himself is healthy and his wife is not a blood relative with no family history of the disease. What is the probability the expecting couples child will be affected by Wilson’s Disease? A 1/12 B 1/4 C 1/600 D 1/300 E 1/200HardyWeinbergEquation p²+2pq+q²=1 P+Q=1 p²=AA(Fractionofthepopulationthatdonothavethe autosomalrecessivecondition) q²=aa(Fractionofthepopulationthathavetheautosomal recessivecondition) 2pq=Aa(Fractionofpopulationthatarecarriers) OddsandRatio • Riskofbeing aCarrierifyour siblingis affected byautosomal recessive disease • 2/3James and Carol are expecting a child. James sister is affected by Wilson’s Disease. This is a rare autosomal recessive disease affecting 1/40,000 people. James himself is healthy and his wife is not a blood relative with no family history of the disease. What is the probability the expecting couples child will be affected by Wilson’s Disease? Autosomal Recessive Equation Dad Carrier Risk x Mom Carrier Risk x ¼ Dad Carrier Risk = 2/3 Because he has a sibling that has the Autosomal Recessive Disease Mom Carrier Risk = 1/100 q2 = 1/40,000 2/3x1/100x¼=1/600 q = 1/200 Rare Autosomal Condition -> P=1 2pq = 1/100 TheEnd Email : yeozd@cardiff.ac.uk
