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Birth defect Congenital malformation Congenital anomaly (Hereditary) abnormality.

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Presentation on theme: "Birth defect Congenital malformation Congenital anomaly (Hereditary) abnormality."— Presentation transcript:

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3 Birth defect Congenital malformation Congenital anomaly (Hereditary) abnormality

4 Malformation Disruptions Deformations Syndromes Minor anomalies Major anomalies

5 1- پاسخ (آسیب پذیری) جنین و مادر به عامل تراتوژن 2- مرحله تکاملی جنین (Developmental stage at the time of exposure) 3- دوز و مدت زمان تماس با عامل تراتوژن (Dose and duration of exposure to a teratogen) 4- طریقه عمل تراتوژن : تغییرات در سطح سلولی و مولکولی 5- نتیجه تراتوژن : مرگ، ناهنجاری، عقب ماندگی رشد، بیماری های عملکردی

6 Hereditary (Genetic) causes 15-18% Environmental factors 7-10% Multifactorial 25% Unknown 50%

7 First week (Resistant period) Embryonic period Maximum susceptibility (organ morphogenesis) Fetal Period Lowered Susceptibility (functional derangement)

8 1- اختلالات تعدادي كروموزوم (Numerical Chromosomal Anomalies) الف ) پلي پلوئيدی (Polyploidy) Triploidy 69 يك تخمك هاپلوئيد با دو اسپرم یا تخمک دیپلوئید با یک اسپرم Tetraploidy 92 اولين كليواژ ب ) آنوپلوئيدی (Aneuploidy) تريزومی تريزومي 13 (Patau syndrome) تريزومی 18 (Edwards syndrome) تریزومی 21 سندرم داون (Down syndrome) سندرم كلاين فلتر (Klinfelter syndrome-XXY) Triple X (Superfemale) مونوزمی سندرم ترنر (Turner syndrome- XO)

9 Patau Syndrome 1/20000 cleft-lip-baby

10 Edwards Syndrome 1/5000

11 Maternal nondisjunction (95%) Mosaism Translocation

12 Monosomy Nondisjunction in sperm 80% Struc X Nondisjunction in mitosis (Mosaism )

13 2- ناهنجاري هاي ساختماني كروموزوم (Structural Chromosomal Anomalies) Isochromosome Crossing over : Translocation 21,13,14, 15 in D own syndrome Partial Deletion Cri du chat 5 (microcephal, mental, cardiovas) Microdeletion Angelman 15 (speech, mental, movement) Prader- willi 15 (fatty, mental, hypogonad) Inversion

14 3- ناهنجاري هاي حاصل از جهش ژنی (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

15 Infectious Agents (& other disease) Drugs Agents (& Hormonic Agents) Chemical Agents Physical Agents

16 A) Viral infections Rubella virus (German Measles) ویروس سرخجه 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) آبله مرغان First 3 month-From Placenta- limb hypoplasia & parasis., hydrocephaly. Mental retardation, cataract HIV After 35 th week- Systematic Chronic infection(fangus,bacterial,viral,protozoan)

17 B) Nonviral infections Toxoplasma in each three munth - death,microcephaly,hydroceohaly,cerebral calcification Treponema pallidum Syphilis, rhinitis,eye defect(cataract),icterus,abnormal teeth, splenohepatomegaly

18 Desease Diabetes Coudal disgenesis, death PKU mental retardation, microcephaly, cardiac defect Nutrient deficiency Iodine deficiency coused cretinism Obesity ONTD, cardiac defect, … Hypoxy

19 Drugs Agents Category X drugs Category D drugs

20 Category X drugs  Thalidomide  Aminopterin  methotrexate  Busulfan  Phenytoin  Triazolam  Warfarin  Isotretinoin  Clomiphen  Diethylstilbestrol  Ethisterone  Norethindrone  Nicotine  Alcohol

21 Category X drugs

22  Thalidomide

23 Category X drugs  Aminopterin  Methotrexate  Busulfan Used in chemotererapy Dawerfism Myelomeningocele palate clef Growth retardation ophtalmic defect

24 Category X drugs  Aminopterin  Methotrexate  Busulfan Used in chemotererapy Dawerfism Myelomeningocele palate clef Growth retardation ophtalmic defect

25 Category X drugs  Phenytoin  Antileptic drug  microcephaly  Growth & mental retardation  palate clef  Finger & nail Hypoplesia  Skull defect

26 Category X drugs  Warfarin  Anti couagulant drug  Mental retardation  microcephaly  optic n. atrophy  Fetal bleeding

27 Category X drugs  Clomiphen  Non-steroidal drug  Used for stimulus ovulation  Maybe Malformatin

28 Category X drugs  Retinoids (vitamin A)  Used for Cystic akne  severe craniofacial defects  cardiac defects  neural tube defects (NTD)  Palate cleft tretinoin (Retin-A) isotretinoin, 13-cis-retinoic acid

29 Category X drugs  Nicotine  Mental retardation  Wheight loss  Fetal Hypoxy  Premature Parturition

30 Category X drugs  Alcohol  Fetal Alcholic Syndrome (FAS)  Mental retardation  microcephaly  Cardivascular defect  Limb & Face malformation  Hairsutism

31 Category D drugs  Tetracycline  doxycycline  Streptomycin  Phenobarbital  Pentobarbital  Valsuroic acid  Diazepam  lorazepam  Lithium  Hydrochlorothiazide

32 Category D drugs  Phenobarbital & Pentobarbital  paliative drug  Fetal malformation

33 Category D drugs  Diazepam, Lorazepam, Chlorodiazepoxide  antianxiety drug  palate & lip clef specially in first 3 munth

34 Category D drugs  Lithium,Phenothiazine  Antiedepressive  CardioVascular defect

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36 Physical Agents

37 Male-mediated Teratogenesis  Chromosomal defects & Mutation in germ cells  Environmental agent : transmission of paternal mediated toxicity through seminal fluid

38  Ultrasonography  Maternal Serum Screening (AFP,hCG) AFP : Trisomy ↓- NTD,GIT atresia,amniotic band ↑  Amniocentesis  Chorionic Villus Sampling (CVS)

39  Fetal Transfusion  Fetal Medical Treatment  Fetal Surgery  Stem Cell Transplantation and Gene Therapy Befor 18 th week (activation of immune system)

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