congenital anomalies and teratogens

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Congenital Anomalies and Teratogens. Jun Zhou (周俊) School of Medicine, ZheJiang University 20140106. Birth defect, congenital malformation and congenital anomaly Are synonymous terms used to describe structural, behavioral, functional and metabolic disorders present at birth. - PowerPoint PPT Presentation

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  • Congenital Anomalies and TeratogensJun ZhouSchool of Medicine, ZheJiang University20140106

  • Birth defect, congenital malformation and congenital anomalyAre synonymous terms used to describe structural, behavioral, functional and metabolic disorders present at birth

  • Causes of Birth DefectsGenetic/Chromosomal - 15-20%Environmental (teratogens) - 10-15%Combined - 20-25%Multiple Gestations - 1%Unknown - 40-50%

  • Genetic CausesMolecules that regulate developmentEnzymesStructural genesLocalized to a Chromosome gene unknown

  • Environmental factors (Teratogens)Infectious agents-virusPhysical agents X-rays, Hyperthemia, etcChemicals agents alcohol, Cocaine, etcHormonesMaternal diabetes

  • Periods of VulnerabilityPreembryonic period Pregerm (0-2 wks)Usually DeathEmbryonic period Organogenesis (3-8 wks)Abnormalities of Form (malformations)Fetal period Growth/Maturation (9 wks birth)Growth RetardationMental dysfunctionFetus vulnerable Rapid cell proliferationCell migrationCell differentiation

  • Current Methods of DiagnosisUltraSound/AmniocentesisKaryotypingSpectral KaryotypingFISH - translocation/targetPCR of target sequenceRT-PCR - gene expression

  • Ultrasound/Amnniocentesis

  • Spectral KaryotypingAll 23 chromosome pairs at one time Different Fluorescent probesUseful for translocations

  • Fluorescent In Situ HybridizationChromosome mappingIdentify and localize discrete chromosomal abnomalitiesDeletions

  • Fluorescent In Situ Hybridization

  • PCRUsing 2 small primers (20 bp)25-40 cycles of:DenatureAnnealSynthesizeIdentify gene expression or mutation

  • PCRUsing 2 small primers (20 bp)25-40 cycles of:DenatureAnnealSynthesizeIdentify gene expression or mutation

  • Human fetal specimens

  • uterus

  • Fetus, amnion and uterus

  • Normal fetus. How old is it?

  • Growth in Length and Weight During the Fetal Period

    Age(weeks)CRL(cm)Crown-rump lengthWeight(g)9-1213-1617-2021-2425-2829-3233-3637-385-8 9-1415-1920-2324-2728-3031-3435-3610-4560-200250-450500-820900-13001400-21002200-29003000-3400

  • Chorion and fetus, amnion

  • Chorion and fetus

  • Placenta with two umbilical cord

  • Placenta with three umbilical cord

  • Conjoined twins

  • Teratoma

  • Anencephaly

  • Anencephaly with following meningomyeloecel

  • meningomyeloecel

  • Malformation of head

  • Malformation of head

  • Horse shoe-kidney

  • Umbilical cord encircles the neck

  • A cyst near the ear

  • THE END!