TH Tulchinsky MD MPH

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

• Toxic
• Thalidomide
• Crack babies
• Fetal alcohol syndrome
• Physiologic
• Rh
• Hemorrhagic Disease of Newborn

7
Maternal Fetal Infectious Transmission

• GC conjunctivitis
• Syphilis
• TB
• Syphilis
• 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
• Downs
• 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
• Govt 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