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Birth defectCongenital malformation  Congenital anomaly(Hereditary) abnormality
• Minor anomalies• Major anomalies• Malformation• Disruptions• Deformations• Syndromes
-                                                 -(Developmental stage at the time of exposure)                          ...
 Hereditary (Genetic) causes 15-18% Environmental factors 7-10% Multifactorial 25% Unknown 50%
 First      week (Resistant period) Embryonic period             Maximum susceptibility (organ morphogenesis) Fetal   ...
-   •Numerical Chromosomal Anomalies                    Polyploidy                                •                       ...
Patau Syndrome 1/20000        cleft-lip-baby
Edwards Syndrome1/5000
Maternal nondisjunction (95%)MosaismTranslocation
•Monosomy•Nondisjunction in sperm80%•Struc X•Nondisjunction in mitosis(Mosaism)
- •Structural Chromosomal Anomalies •• Isochromosome• Crossing over :       • Translocation        21,13,14, 15 in Down   ...
-3 •Gene Mutation Anomalies• Marphan syndrome• Crigler-Najjar syndrome• Roberts syndrome• Alport syndrome• Aarskog-Scott s...
• Infectious Agents (& other disease)• Drugs Agents (& Hormonic Agents)• Chemical Agents• Physical Agents
• A) Viral infections  • Rubella virus (German Measles)     1month-From placenta- atrioventricular septsl defect, cataract...
• B) Nonviral infections •Toxoplasma      in each three munth - death,microcephaly,hydroceohaly,cerebral calcification •Tr...
• Desease •Diabetes    Coudal disgenesis, death •PKU    mental retardation, microcephaly, cardiac defect• Nutrient deficie...
Drugs AgentsCategory X drugsCategory D drugs
Category X drugs   Thalidomide     Clomiphen Aminopterin       Diethylstilbestrol methotrexate      Ethisterone Bus...
Category X drugs   Thalidomide                
Category X drugs   Thalidomide
Category X drugs Aminopterin Methotrexate Busulfan   Used in chemotererapy    Dawerfism    Myelomeningocele    pala...
Category X drugs Aminopterin Methotrexate Busulfan   Used in chemotererapy    Dawerfism    Myelomeningocele    pala...
Category X drugs Phenytoin Antilepticdrug microcephaly Growth & mental retardation palate clef Finger & nail Hypople...
Category X drugsWarfarin Anti    couagulant drug   Mental retardation    microcephaly   optic n. atrophy   Fetal ble...
Category X drugs Clomiphen Non-steroidal drug Used for stimulus ovulation Maybe   Malformatin
Category X drugsRetinoids         (vitamin A)                                   isotretinoin, 13-cis-retinoic acid Used ...
Category X drugsNicotine   Mental retardation   Wheight loss   Fetal Hypoxy   Premature Parturition
Category X drugsAlcohol Fetal Alcholic Syndrome (FAS) Mental retardation microcephaly Cardivascular defect Limb & Fa...
Category D drugs Tetracycline     Valsuroic   acid doxycycline      Diazepam Streptomycin       lorazepam Phenobarb...
Category D drugs Phenobarbital      & Pentobarbital paliative   drug Fetal   malformation
Category D drugsDiazepam,               Lorazepam ,    Chlorodiazepoxide antianxiety drug   palate & lip clef specially...
Category D drugsLithium   ,Phenothiazine Antiedepressive CardioVascular    defect
Physical Agents
Male-mediated Teratogenesis   Chromosomal defects & Mutation in germ cells   Environmental agent : transmission of pater...
   Ultrasonography   Maternal Serum Screening (AFP,hCG)       AFP : Trisomy↓- NTD,GIT atresia,amniotic band↑   Amniocen...
   Fetal Transfusion   Fetal Medical Treatment   Fetal Surgery   Stem Cell Transplantation and Gene Therapy           ...
Teratology teratogenesis-birth defect-congenital malformation- anomaly(hereditary) abnormality تراتوژنیستیه تراتولوژی
Teratology teratogenesis-birth defect-congenital malformation- anomaly(hereditary) abnormality تراتوژنیستیه تراتولوژی
Teratology teratogenesis-birth defect-congenital malformation- anomaly(hereditary) abnormality تراتوژنیستیه تراتولوژی
Teratology teratogenesis-birth defect-congenital malformation- anomaly(hereditary) abnormality تراتوژنیستیه تراتولوژی
Teratology teratogenesis-birth defect-congenital malformation- anomaly(hereditary) abnormality تراتوژنیستیه تراتولوژی
Teratology teratogenesis-birth defect-congenital malformation- anomaly(hereditary) abnormality تراتوژنیستیه تراتولوژی
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Teratology teratogenesis-birth defect-congenital malformation- anomaly(hereditary) abnormality تراتوژنیستیه تراتولوژی

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تراتوژن ها
تراتولوژی
زایمان
تولد
مادرزادی
ابنورمالیتی
آنومالی
ارثی

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Teratology teratogenesis-birth defect-congenital malformation- anomaly(hereditary) abnormality تراتوژنیستیه تراتولوژی

  1. 1. Birth defectCongenital malformation Congenital anomaly(Hereditary) abnormality
  2. 2. • Minor anomalies• Major anomalies• Malformation• Disruptions• Deformations• Syndromes
  3. 3. - -(Developmental stage at the time of exposure) -(Dose and duration of exposure to a teratogen) - -
  4. 4.  Hereditary (Genetic) causes 15-18% Environmental factors 7-10% Multifactorial 25% Unknown 50%
  5. 5.  First week (Resistant period) Embryonic period  Maximum susceptibility (organ morphogenesis) Fetal Period  Lowered Susceptibility (functional derangement)
  6. 6. - •Numerical Chromosomal Anomalies Polyploidy • 69 Triploidy 92 Tetraploidy Aneuploidy • (Patau syndrome) Edwards syndrome Down syndrome Klinfelter syndrome-XXY Triple X (Superfemale) Turner syndrome- XO
  7. 7. Patau Syndrome 1/20000 cleft-lip-baby
  8. 8. Edwards Syndrome1/5000
  9. 9. Maternal nondisjunction (95%)MosaismTranslocation
  10. 10. •Monosomy•Nondisjunction in sperm80%•Struc X•Nondisjunction in mitosis(Mosaism)
  11. 11. - •Structural Chromosomal Anomalies •• Isochromosome• Crossing over : • Translocation 21,13,14, 15 in Down syndrome • Partial Deletion Cri du chat 5(microcephal, mental, cardiovas) • Microdeletion Angelman 15 (speech, mental, movement) Prader- willi 15 (fatty, mental, hypogonad) • Inversion
  12. 12. -3 •Gene Mutation Anomalies• Marphan syndrome• Crigler-Najjar syndrome• Roberts syndrome• Alport syndrome• Aarskog-Scott syndrome• Savant syndrome• treacher-collins syndrome• Niemann–Pick disease• Cystic Fibrosis• DMD
  13. 13. • Infectious Agents (& other disease)• Drugs Agents (& Hormonic Agents)• Chemical Agents• Physical Agents
  14. 14. • A) Viral infections • Rubella virus (German Measles) 1month-From placenta- atrioventricular septsl defect, cataract. Weight ↓ • Cytomegalovirus(CMV) From Placenta,Cervix,Vagina (& Lactation) - microephaly, deafness, mental retardation, hepatospleenomegally ,cardiac defect,cerebral calcification, blue spot on skin • Herpes simplex virus(HSV) From Placenta,Vagina(85%)- Defect in CNS,liver, pancreas,ren,suprarenal glands, infection on skin, Eyes or mouth – no treatment=40-50% death • Varicella-zoster virus(VZV) First 3 month-From Placenta- limb hypoplasia & parasis., hydrocephaly. Mental retardation, cataract • HIV After 35th week- Systematic Chronic infection(fangus,bacterial,viral,protozoan)
  15. 15. • B) Nonviral infections •Toxoplasma in each three munth - death,microcephaly,hydroceohaly,cerebral calcification •Treponema pallidum Syphilis, rhinitis,eye defect(cataract),icterus,abnormal teeth, splenohepatomegaly
  16. 16. • Desease •Diabetes Coudal disgenesis, death •PKU mental retardation, microcephaly, cardiac defect• Nutrient deficiency Iodine deficiency coused cretinism• Obesity ONTD, cardiac defect, …• Hypoxy
  17. 17. Drugs AgentsCategory X drugsCategory D drugs
  18. 18. Category X drugs Thalidomide  Clomiphen Aminopterin  Diethylstilbestrol methotrexate  Ethisterone Busulfan  Norethindrone Phenytoin  Nicotine Triazolam  Alcohol Warfarin Isotretinoin
  19. 19. Category X drugs Thalidomide    
  20. 20. Category X drugs Thalidomide
  21. 21. Category X drugs Aminopterin Methotrexate Busulfan Used in chemotererapy Dawerfism Myelomeningocele palate clef Growth retardation ophtalmic defect
  22. 22. Category X drugs Aminopterin Methotrexate Busulfan Used in chemotererapy Dawerfism Myelomeningocele palate clef Growth retardation ophtalmic defect
  23. 23. Category X drugs Phenytoin Antilepticdrug microcephaly Growth & mental retardation palate clef Finger & nail Hypoplesia Skull defect
  24. 24. Category X drugsWarfarin Anti couagulant drug Mental retardation microcephaly optic n. atrophy Fetal bleeding
  25. 25. Category X drugs Clomiphen Non-steroidal drug Used for stimulus ovulation Maybe Malformatin
  26. 26. Category X drugsRetinoids (vitamin A) isotretinoin, 13-cis-retinoic acid Used for Cystic akne severe craniofacial defects cardiac defects neural tube defects (NTD) Palate cleft tretinoin (Retin-A)
  27. 27. Category X drugsNicotine Mental retardation Wheight loss Fetal Hypoxy Premature Parturition
  28. 28. Category X drugsAlcohol Fetal Alcholic Syndrome (FAS) Mental retardation microcephaly Cardivascular defect Limb & Face malformation Hairsutism
  29. 29. Category D drugs Tetracycline  Valsuroic acid doxycycline  Diazepam Streptomycin  lorazepam Phenobarbital  Lithium Pentobarbital  Hydrochlorothiazide
  30. 30. Category D drugs Phenobarbital & Pentobarbital paliative drug Fetal malformation
  31. 31. Category D drugsDiazepam, Lorazepam , Chlorodiazepoxide antianxiety drug palate & lip clef specially in first 3 munth
  32. 32. Category D drugsLithium ,Phenothiazine Antiedepressive CardioVascular defect
  33. 33. Physical Agents
  34. 34. Male-mediated Teratogenesis Chromosomal defects & Mutation in germ cells Environmental agent : transmission of paternal mediated toxicity through seminal fluid
  35. 35.  Ultrasonography Maternal Serum Screening (AFP,hCG) AFP : Trisomy↓- NTD,GIT atresia,amniotic band↑ Amniocentesis Chorionic Villus Sampling (CVS)
  36. 36.  Fetal Transfusion Fetal Medical Treatment Fetal Surgery Stem Cell Transplantation and Gene Therapy Befor 18th week (activation of immune system)
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تراتوژن ها تراتولوژی زایمان تولد مادرزادی ابنورمالیتی آنومالی ارثی

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