This document discusses birth defects and congenital anomalies, their causes and classification. It notes that hereditary factors cause 15-18% of cases, environmental 7-10%, multifactorial 25% and unknown 50%. Major causes include genetic/chromosomal abnormalities, infections, drugs, chemicals and physical agents. Specific birth defects are associated with exposures to various infectious agents, drugs, chemicals and physical factors during critical periods of embryonic and fetal development. Prenatal screening and diagnostic tests as well as fetal treatments are mentioned.

3. Birth defect
Congenital malformation
Congenital anomaly
(Hereditary) abnormality

4. • Minor anomalies
• Major anomalies
• Malformation
• Disruptions
• Deformations
• Syndromes

5. -
-
(Developmental stage at the time of exposure)
-
(Dose and duration of exposure to a teratogen)
-
-

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. - •
Numerical Chromosomal Anomalies
Polyploidy •
69 Triploidy
92 Tetraploidy
Aneuploidy •
(Patau syndrome)
Edwards syndrome
Down syndrome
Klinfelter syndrome-XXY
Triple X (Superfemale)
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. - •
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

14. -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

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

16. • 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)

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  Clomiphen
 Aminopterin  Diethylstilbestrol
 methotrexate  Ethisterone
 Busulfan  Norethindrone
 Phenytoin
 Nicotine
 Triazolam
 Alcohol
 Warfarin
 Isotretinoin

21. Category X drugs
 Thalidomide





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

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  Valsuroic acid
 doxycycline  Diazepam
 Streptomycin  lorazepam
 Phenobarbital  Lithium
 Pentobarbital  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

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 18th week (activation of immune system)