1. Prevention of Birth Defects
TH Tulchinsky MD MPH
Braun School Public Health

2. Public Health Importance
Common
Neonatal and infant mortality
Progress made
Preventable
Education
Screening
Intervention
Human genome project

3. Program Approach Multiple causation Toxic Nutrition Physiologic
Infection
Genetic
Trauma

4. Non Genetic Maternal-Fetal Transmission
Physiologic
Rhesus hemolytic anemia (Rh syndrome)
Hemorrhagic disease of newborn (HDN)
Toxic
Thalidomide
Fetal alcohol syndrome
Crack babies

5. Birth Defects due to Genetic Disorders
PKU CH
Tay-Sachs
Sickle Cell
Cystic Fibrosis
Downs syndrome
Others

6. Toxicity and Physiologic Causes
Thalidomide
Crack babies
Fetal alcohol syndrome
Physiologic Rh
Hemorrhagic Disease of Newborn

7. Maternal Fetal Infectious Transmission
GC conjunctivitis
Syphilis TB
Cytomegalovirus
AIDS
Congenital rubella
Mumps

8. Preventing Infectious Disease Transmission, Mother to Child
Prevention of congenital rubella syndrome
immunize school girls
immunize total population (MMR)
Prevention of Syphilis, CMV and HIV
Education
Case find
Treat

9. MND Deficiency Iodine deficiency - cretinism Folic acid deficiency
NTDs
Down’s
Congenital heart
Low birth weight
Iron deficiency and anemia

10. Genetic Disorder
Transmission from one (dominant) or both parent (recessive) heterozygotes
Monozygotes (recessive)

11. GC Opthalmia Neonatorum
Common cause of blindness 19th C
Crede in Vienna experimented with many prophylactic preparations
Silver nitrate
Eradicated GC neonatorum blindness

12. Pre Pregnancy and Prenatal Prevention
Stop smoking, alcohol and drug intake to prevent fetal damage;
STD, HIV testing
Nutrition counselling
Genetic counselling to reduce consanguineous marriages

13. Pre Pregnancy and Prenatal Prevention
Avoid unnecessary medication
Physical fitness
General counseling
Iron, folic acid, iodine, multivitamins
Pregnancy risk assessment
Referral for high risk care
Prenatal care protocol starting in T1

14. Newborn Screening for Congenital Disorders and Followup Management
Sickle cell disease
Phenylketonuria
Hypothyroidism
Other metabolic disorders

15. A Program Preventive Approach to Birth Defects
Screening and Management
Genetic counselling
Education
Gov’t and voluntary organizations (March of Dimes)

16. Summary and Conclusion
Prevention of birth defects and congenital disorders involves wide range of public health and individual care measures.
Knowledge of genetic diseases from the Human Genome Project will increase potential for this field
MNDCs and prevention of birth defects and disorders cost effective
Genetic, toxic and nutritional factors all important for healthy of newborns