birth defect congenital malformation congenital anomaly (hereditary) abnormality
TRANSCRIPT
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Causes of Malformations(Teratogenesis or
Dismorphology)? ??
Presented by Dr Sadatinejad, Seyyed Mohsen,student of Medicine from Iran,Kashan 19/12/2012
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Birth defect
Congenital malformation
Congenital anomaly
(Hereditary) abnormality
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Types of Abnormalities :
• Malformation• Disruptions• Deformations• Syndromes
• Minor anomalies• Major anomalies
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Principles of Teratology
- پاسخ )آسیب پذیری( جنین و مادر به عامل تراتوژن1 - مرحله تکاملی جنین2
)Developmental stage at the time of exposure(- دوز و مدت زمان تماس با عامل تراتوژن3
(Dose and duration of exposure to a teratogen)- طریقه عمل تراتوژن : تغییرات در سطح سلولی و مولکولی4- نتیجه تراتوژن : مرگ، ناهنجاری، عقب ماندگی رشد، بیماری های 5
عملکردی
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Hereditary )Genetic( causes 15-18%Environmental factors 7-10%Multifactorial 25%Unknown 50%
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First week )Resistant period( Embryonic period
Maximum susceptibility )organ morphogenesis(
Fetal Period Lowered Susceptibility )functional derangement(
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Genetic factors- اختالالت تعدادي كروموزوم 1•
)Numerical Chromosomal Anomalies()Polyploidyالف) پلي پلوئيدی (•
Triploidy 69 يك تخمك هاپلوئيد با دو اسپرم یاتخمک دیپلوئید با یک اسپرم
Tetraploidy 92 اولين كليواژ
)Aneuploidyب) آنوپلوئيدی (•
تريزومی
)Patau syndrome (13تريزومي
)Edwards syndrome (18تريزومی (Down syndrome سندرم داون )21تریزومی
(Klinfelter syndrome-XXYسندرم كالين فلتر)Triple X )Superfemale(
مونوزمی )Turner syndrome- XOسندرم ترنر(
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Patau Syndrome
1/20000
cleft-lip-baby
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Edwards Syndrome
1/5000
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Maternal nondisjunction (95%)MosaismTranslocation
Down syndrome
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• Monosomy• Nondisjunction in sperm
80%• Struc X• Nondisjunction in mitosis
(Mosaism)
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ناهنجاري هاي ساختماني كروموزوم - 2••)Structural Chromosomal Anomalies(
• Isochromosome• Crossing over :
• Translocation21,13,14, 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
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- ناهنجاري هاي حاصل از جهش ژنی 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
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Environmental factors
• Infectious Agents (& other disease)
• Drugs Agents (& Hormonic Agents)
• Chemical Agents
• Physical Agents
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• A( Viral infections• Rubella virus )German Measles( سرخجه ویروس
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( مرغان آبلهFirst 3 month-From Placenta- limb hypoplasia & parasis., hydrocephaly. Mental retardation, cataract
• HIV After 35th week- Systematic Chronic
infection)fangus,bacterial,viral,protozoan(
Infectious Agents
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Infectious Agents• B( Nonviral infections
•Toxoplasma in each three munth -
death,microcephaly,hydroceohaly,cerebral calcification
•Treponema pallidum Syphilis, rhinitis,eye defect)cataract(,icterus,abnormal teeth,
splenohepatomegaly
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ناهنجاری با مرتبط مادری های بیماری• Desease
•Diabetes Coudal disgenesis, death
•PKUmental retardation, microcephaly, cardiac defect
• Nutrient deficiency Iodine deficiency coused cretinism
• ObesityONTD, cardiac defect, …
• Hypoxy
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Drugs AgentsCategory X drugs
Category D drugs
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Category X drugs
Thalidomide
Aminopterin
methotrexate
Busulfan
Phenytoin
Triazolam
Warfarin
Isotretinoin
Clomiphen
Diethylstilbestro
l
Ethisterone
Norethindrone
Nicotine
Alcohol
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Category X drugs Thalidomide
antinauseant drug داروی ضد تهوعlimb defect (Amelia,Meromelia)Cardiac defectGIT atresyOptic & otic defect
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Category X drugs Thalidomide
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Category X drugsAminopterin MethotrexateBusulfan
Used in chemotererapy Dawerfism Myelomeningocele palate clef Growth retardation ophtalmic defect
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Category X drugsAminopterin MethotrexateBusulfan
Used in chemotererapy Dawerfism Myelomeningocele palate clef Growth retardation ophtalmic defect
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Category X drugsPhenytoin
Antileptic drug microcephalyGrowth & mental retardationpalate clefFinger & nail HypoplesiaSkull defect
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Category X drugsWarfarin
Anti couagulant drug Mental retardation microcephaly optic n. atrophy Fetal bleeding
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Category X drugsClomiphen
Non-steroidal drug Used for stimulus ovulation
Maybe Malformatin
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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
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Category X drugs
Nicotine
Mental retardation Wheight loss Fetal Hypoxy Premature Parturition
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Category X drugs
Alcohol
Fetal Alcholic Syndrome (FAS) Mental retardation microcephaly Cardivascular defect Limb & Face malformation Hairsutism
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Category D drugs
Tetracycline
doxycycline
Streptomycin
Phenobarbital
Pentobarbital
Valsuroic acid
Diazepam
lorazepam
Lithium
Hydrochlorothiazid
e
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Category D drugs
Phenobarbital & Pentobarbital
paliative drug
Fetal malformation
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Category D drugs
Diazepam, Lorazepam ,
Chlorodiazepoxide
antianxiety drug palate & lip clef specially in first 3 munth
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Category D drugs
Lithium ,Phenothiazine
Antiedepressive
CardioVascular defect
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Chemical Agents(heavy metals)
Organic mercury
Blindness, deaf, cerebral pulsy (c.p)
Leadmental retardation, death of fetus
Poly chlorin biphenyil & Pentobarbital mental retardation, gingiva hyperplasia, exophthalmos, skull calcification, brown pigment in skin
Potassium iodideused as contrastment substance. mental retardation, goiter
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Physical AgentsIonizing Radiation
Acute high dose (over 250 rads)
Microcephay,spina bifida,palate cleft, limb defect
Hyperthermiaanencephaly,spina bifida, mental retardation,
facial malformation, cardiac defect, limb defect
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Male-mediated Teratogenesis
Chromosomal defects & Mutation in germ cells
Environmental agent : transmission of paternal mediated toxicity through seminal fluid
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Ultrasonography
Maternal Serum Screening )AFP,hCG(
AFP : Trisomy↓- NTD,GIT atresia,amniotic band↑
Amniocentesis
Chorionic Villus Sampling )CVS(
Prenatal Diagnosis
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Fetal Transfusion
Fetal Medical Treatment
Fetal Surgery
Stem Cell Transplantation and Gene Therapy
Befor 18th week )activation of immune system(
Fetal Therapy
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