Birth Defects

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Birth Defects

  1. 1. Birth Defects Paul A. Romitti, Ph.D. The University of Iowa
  2. 2. Criteria Substantial public health burden Well-defined case definition Awareness of disease among relatives Accurately reported by family members Family history is established risk factor Effective interventions for primary and secondary prevention
  3. 3. Criteria Well-defined case definition Substantial public health burden Family history is established risk factor Awareness of disease among relatives Accurately reported by family members Effective interventions for primary prevention
  4. 4. Case Definition Birth Defect? A birth defect is an abnormality of structure or function present at birth that results in physical disability, mental disability or death
  5. 5. Case Definition Structural Defects – Brain/Spinal Cord – Ear – Eye Cleft lip and palate – Facial/Oral – Gastrointestinal – Genital/Urinary – Heart – Muscle/Skeletal Ventricular septal defect Child photo courtesy of NFFR
  6. 6. Cleft Lip +/- Palate DEFINITION -- incomplete closure of the lip; often accompanied by a maxillary alveolar (gum) defect and/or cleft palate ; maxillary alveolar defect may be a complete cleft that is continuous with the cleft palate, or it may be limited to a notch on the gum; cleft lip may be unilateral, bilateral, or median (distinguished from bilateral cleft lip by agenesis of premaxilla) Source: CDC
  7. 7. Cleft Lip +/- Palate COMPLETE CLEFT LIP--defect extends through the entirety of the lip and the nasal floor; may be unilateral or bilateral; usually associated with a more severe nasal deformation INCOMPLETE CLEFT LIP--defect of lip that does not extend into the nasal floor; may be unilateral or bilateral; there may be an incomplete cleft lip on one side and a complete cleft lip on the other side PSEUDOCLEFT LIP--abnormal linear thickening or depressed groove of skin, or subtle scar-like pigmentary difference paralleling the philtral ridge on the affected side; may be associated with slight notch of the vermillion or a mild slouching of the alar cartilage Source: CDC
  8. 8. Criteria Well-defined case definition Substantial public health burden
  9. 9. Public Health Burden – World Overall estimated 6% of births have defect of genetic or partially genetic origin Heart defects, neural tube defects and Down syndrome most common defects Estimated 3.3 million children under 5 years of age die annually from serious birth defects Highest totals of occurrence (94%) and deaths (95%) found in middle- and low-income countries Source: March of Dimes 2006
  10. 10. Source: March of Dimes 2006
  11. 11. Public Health Burden – US Overall estimated birth prevalence of 3-5% National estimates of 18 selected defects found highest prevalence for orofacial clefts and Down syndrome* Leading cause of infant mortality (1 in 5 deaths) On average, 18 babies die per day as result of birth defect Costs for care and treatment annually totals millions of dollars *Source: MMWR 2006
  12. 12. Public Health Burden
  13. 13. Criteria Well-defined case definition Substantial public health burden Family history is established risk factor
  14. 14. Established Risk Factor 20-30% due to known genetic factors 10% due to known environmental factors 60-70% due to unknown genetic and/or environmental factors
  15. 15. Criteria Well-defined case definition Substantial public health burden Family history is established risk factor Awareness of disease among relatives Accurately reported by family members
  16. 16. Awareness of Birth Defects Facial Cleft Child photo courtesy of NFFR
  17. 17. Awareness of Birth Defects Facial cleft? Cleft lip Cleft palate Harelip Bifid uvula Hole in palate
  18. 18. Awareness of Birth Defects Heart Defect ?
  19. 19. Awareness of Birth Defects Heart defect? Ventricular septal defect Heart murmur Heart on wrong side Hole in the heart Myxoma
  20. 20. Awareness of Birth Defects Birth Defect or Condition ?
  21. 21. Awareness of Birth Defects Birth defect or condition? Achondroplasia Arthritis Crossed eyes Cerebral palsy Left handed
  22. 22. Accurately Reported Goal: Evaluate the quality of case and control mother interview reports of birth defects among offspring 100 90 80 70 ? 60 50 = 40 30 20 10 0 Sensitivity Specificity Compared reports with data from Metropolitan Source: Rasmussen et al., 1989 Atlanta Congenital Defects Program
  23. 23. Accurately Reported Goal: Evaluate quality of case and control mother interview reports of birth defects (and cancer) among offspring and first-, second- and third-degree relatives ? = Compared maternal reports Compared reports with with relative self-reports Source: Romitti et al., 1997 Registry data
  24. 24. Accurately Reported 100 90 80 70 60 Ca-Sen 50 Co-Sen 40 Ca-Spec 30 Co-Spec 20 10 0 All Mat Mat - 1 Mat - 2 Pat Pat - 1 Pat - 2 Source: Romitti et al., 1997
  25. 25. Accurately Reported Maternal Family -Age -Number of relatives -Education -Gender of relatives -Family genealogy -Index child birth order -Social contact Investigated effects of selected family and maternal characteristics on quality of reports Source: Romitti et al., 1997
  26. 26. Accurately Reported Sensitivity of maternal reports differed by study group (ca>co) and type of relative (pat>mat) Specificity high for both study groups and each type of relative Mothers (ca and co) tended to over-report ear, face and neck defects and eye (ca) and genitourinary defects (co) Case status and participation in family genealogy were strongest predictors of concordance Source: Romitti et al., 1997
  27. 27. Preliminary Recommendations Self-administered questionnaire Modular design Specific, closed-ended items Systematic inquiries about family members
  28. 28. Orofacial Clefts Applied recommendations to two case-control studies Ongoing Iowa-based study Three-center pilot study (IA, AR, NY) in National Birth Defects Prevention Study
  29. 29. Criteria Well-defined case definition Substantial public health burden Family history is established risk factor Accurately reported by family members Awareness of disease among relatives Effective interventions for primary prevention
  30. 30. Primary Prevention Nutrition – Daily intake of multivitamin with folic acid – Healthy, balanced diet Behaviors – Avoid alcohol and tobacco – Avoid illicit drugs Medical/prenatal care – Pre-pregnancy planning including regular medical check-ups – Medication use (over-the-counter and prescription)
  31. 31. Primary Prevention Family history data collection – Tool for pediatric care – Tool for reproductive counseling Recurrence risks* – Five- to seven-fold risk for same defect in second child – Smaller but elevated risks for different defect in second child – More common recurring defects included orofacial clefts and central nervous system, limb and genitourinary defects *Sources: Lie et al., 1994; Basso et al., 1999
  32. 32. Birth Defects Well-defined case definition Substantial public health burden Family history is established risk factor ? Awareness of disease among relatives ? Accurately reported by family members Effective interventions for primary prevention

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