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Congenital Anomalies and Teratogens

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.

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Congenital Anomalies and Teratogens

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  1. Congenital Anomalies and Teratogens Jun Zhou（周俊） School of Medicine, ZheJiang University 20140106

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

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

  4. Genetic Causes • Molecules that regulate development • Enzymes • Structural genes • Localized to a Chromosome – gene unknown

  5. Environmental factors (Teratogens) • Infectious agents-virus • Physical agents X-rays, Hyperthemia, etc • Chemicals agents alcohol, Cocaine, etc • Hormones • Maternal diabetes

  6. Periods of Vulnerability • Preembryonic period Pregerm (0-2 wks) • Usually Death • Embryonic period Organogenesis (3-8 wks) • Abnormalities of Form (malformations) • Fetal period Growth/Maturation (9 wks – birth) • Growth Retardation • Mental dysfunction • Fetus vulnerable • Rapid cell proliferation • Cell migration • Cell differentiation

  7. Current Methods of Diagnosis • UltraSound/Amniocentesis • Karyotyping • Spectral Karyotyping • FISH - translocation/target • PCR of target sequence • RT-PCR - gene expression

  8. Ultrasound/Amnniocentesis

  9. Spectral Karyotyping • All 23 chromosome pairs at one time • Different Fluorescent probes • Useful for translocations

  10. Fluorescent In Situ Hybridization • Chromosome mapping • Identify and localize discrete chromosomal abnomalities • Deletions

  11. Fluorescent In Situ Hybridization

  12. PCR • Using 2 small primers (20 bp) • 25-40 cycles of: • Denature • Anneal • Synthesize • Identify gene expression or mutation

  13. PCR • Using 2 small primers (20 bp) • 25-40 cycles of: • Denature • Anneal • Synthesize • Identify gene expression or mutation

  14. Human fetal specimens

  15. uterus

  16. Fetus, amnion and uterus

  17. Normal fetus. How old is it?

  18. Growth in Length and Weight During the Fetal Period

  19. Chorion and fetus, amnion

  20. Chorion and fetus

  21. Placenta with two umbilical cord

  22. Placenta with three umbilical cord

  23. Conjoined twins

  24. Teratoma

  25. Anencephaly

  26. Anencephaly with following meningomyeloecel

  27. meningomyeloecel

  28. Malformation of head

  29. Malformation of head

  30. Horse shoe-kidney

  31. Umbilical cord encircles the neck

  32. A cyst near the ear

  33. THE END!

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