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

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

Program Approach Multiple causation Toxic Nutrition Physiologic Infection Genetic Trauma

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

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

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

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

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

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

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

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

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

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

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

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

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