Prevention of Birth Defects TH Tulchinsky MD MPH

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

Maternal Fetal Infectious Transmission • • • GC conjunctivitis Syphilis TB Syphilis 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 19 th 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 T 1

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