1. TM Centers for Disease Control and Prevention National Center on Birth Defects and Developmental Disabilities Centers for Disease Control and Prevention National Center on Birth Defects and Developmental Disabilities The Role of Vital Records in Birth Defects Surveillance Larry D. Edmonds, M.S.P.H.

2. TM Public Health Importance of Birth Defects  1 in every 33 babies is born with a major birth defect each year  30% of admissions to pediatric hospitals  17 most significant birth defects: $6 billion annually  Leading cause of infant mortality  Some causes entirely preventable

3. TM Source: Centers for Disease Control and Prevention, National Center for Health Statistics, National Vital Statistics Reports, Vol. 53, No. 17, March 7, 2005. Birth Defects: Impact Ten Leading Causes of Infant Deaths — United States, 2002 Birth Defects: Impact Ten Leading Causes of Infant Deaths — United States, 2002 Complications of placenta, cord, and membranes

4. TM 1960’s International Interest due to Thalidomide 1968 Metropolitan Atlanta Congenital Defects Program started at CDC 1974 3 State programs 1980’s Epidemiologic research and State surveillance programs 1996 NBDPN formed 2004 38 operational and 9 planning programs History of Birth Defects Surveillance

5. TM  Detect time trends, epidemics  Quantify morbidity or mortality  Evaluate community concerns  Stimulate epidemiological research  Evaluate the need for and facilitate access to services  Guide and assess the progress of intervention and prevention  Provide information for education and advocacy Purposes of a Birth Defects Surveillance Program

6. TM Data Sources for Surveillance Vital Records (births, deaths, fetal deaths) Hospital Records (Discharge summaries or disease indexes, nursery logs, NICU logs, specialty clinics) Administrative databases (Medicaid, state hospital discharges, HMO’s) Special Data Sources (Special Health Care Need Programs, specialty clinics) Prenatal Diagnosis Center Clinical Examination (CCP, hospital-based surveillance, special studies)

7. TM Method and SourceRate Birth Certificates*1.5% Newborn hospital discharge § 4.3 - 7.1% Mandatory hospital reporting ¶ 3.4% Linked data sources * * 4.7% Active hospital surveillance § § 3.2% Physical exam of infants ¶ ¶ 8.3% * Birth Certificates - 1996 § Florida 1996 ¶ New York - 1994-96 * * North Carolina - 1995-96 § § MACDP 1995-99 ¶ ¶ Collaborative Perinatal Project - 1959-96 Rates of Major Birth Defects Determined by Various Data Sources

8. TM CDC Recommended Congenital Anomalies to be Reported on U.S. Standard Birth Certificate Anencephaly Meningomyelocele / spina bifida Cyanotic congenital heart disease Congenital diaphragmatic hernia Omphalocele Gastroschisis Limb reduction defect Cleft lip with or without cleft palate Cleft palate alone Down syndrome Suspected chromosomal disorder Hypospadias Other congenital anomalies (specify)

9. TM Rates* of Specific Birth Defects Reported by Various Birth Defects Programs (per 10,000 live births) Surveillance Program Down Syndrome Spina Bifida Cleft Lip +/- Cleft Palate Gastroschisis Florida12.53.99.2--- Kentucky10.63.510.44.3 MACDP13.03.68.42.2 New York10.62.37.11.2 New U.S. Standard BC ???? *Overall rate for years 1997-2001; Birth Defects Research (Part A) 2004;70 (9 )

10. TM State Birth Defects Programs Operational (37 states and PR) Planning (8 states and DC) No program (5 states) September 2004

11. TM  Over 200 members from 50 states, DC, Puerto Rico, and several countries  Represented organizations: CDC, HRSA, MOD, SBAA, state health departments, universities, OTIS, parent groups National Birth Defects Prevention Network (NBDPN) Membership

12. TM  Annual Meetings  All programs represented  Over 200 participants  Birth Defects Prevention Month  Annual Report, published in BDRA NBDPN Projects

13. TM  Surveillance Guidelines & Standards Manual  Newsletter and website http://www.nbdpn.org  NTD Rapid Ascertainment Project NBDPN Projects

14. TM NBDPN NTD Ascertainment Project (Spina Bifida and Anencephaly) 24 population-based birth defects surveillance systems Population covers approximately 2 million births per year All programs ascertain cases from sources other than birth certificate data 9 programs collect prenatally diagnosed and electively terminated cases

15. TM Prevalence of Spina Bifida – Vital Statistics and NBDPN Data Rate per 10,000 Year

16. TM Prevalence of Anencephaly – Vital Statistics and NBDPN Data Year Rate per 10,000

17. TM CDC Birth Defects Cooperative Agreements  Improve quality and timely ascertainment of major birth defects  Improve access to care for children with birth defects  Improve timely ascertainment of NTD cases  Work on prevention and intervention programs  Encourage surveillance of prenatally diagnosed cases  Evaluate surveillance and intervention activities

18. TM Centers for Birth Defects Research Arizona Florida Illinois New Jersey New York Ohio Puerto Rico Vermont 2003-2008 Cooperative Agreements for Birth Defects Activities  Colorado Michigan Minnesota New Hampshire Oklahoma Rhode Island Virginia 2005-2010 Arkansas California CDC Iowa Massachusetts New York North Carolina Texas Utah         

19. TM Centers for Birth Defects Research and Prevention Participation in the National Birth Defects Prevention Study (NBDPS): largest population- based, case-control study to find causes of major birth defects Expansion of research capacity for genetic and environmental epidemiological studies Expansion and improvement of state birth defects surveillance systems

20. TM National Birth Defects Prevention Study (NBDPS)  Orofacial clefts  Craniosynostosis  Obstructive heart defects  Septal heart defects  Esophageal atresia Focuses on birth defects with unknown etiology Excludes chromosomal abnormalities and single- gene disorders Includes about 30 major types of birth defects including:  Microtia  Spina bifida  Gastroschisis  Omphalocele  Limb defects

21. TM Main Components of NBDPS Clinical database  Standard, detailed case definitions  Review of records by a clinical geneticist Maternal interview  Computer assisted telephone interview  Maternal health, medications, pregnancy history, nutrition, tobacco, alcohol, occupation, demographics, water, and family history Buccal cell (DNA) collection  Mother, father, infant

22. TM NBDPS Case Ascertainment  Cases identified through existing state surveillance systems. Each Center contributes 300 cases per year.  Controls randomly selected from vital records or birth hospitals. Live born with no birth defects. Each Center contributes 100 controls per year.  Clinical geneticists at each center review and classify clinical information for each case.

23. TM Current Status of NBDPS Completed over 19,000 maternal interviews Collected over 8,000 infant DNA samples Developed a comprehensive research agenda of over 200 proposed projects for combined NBDPS dataset Increased epidemiologic research capacity, and published over 100 manuscripts on local research projects

24. TM 199519961997 1998 19992000 2001 Year & quarter of birth Pre-fortificationOptional fort.Mandatory fortification 2002 Prevalence of spina bifida and anencephaly among all participating surveillance systems

25. TM Change in NTD prevalence* among all participating systems Pre- fortification Optional fort. Mandatory fort. PR (95% CI) % decline Spina bifida5.144.263.57 0.69 (0.65-0.74) 31% Anencephaly2.482.152.13 0.86 (0.78-0.94) 14% * Prevelance per 10,000