Monitoring Infants and Childrenwith Special Health NeedsBirth Defects Prevalence and Mortality inMichigan, 1992-2006A report prepared byMichigan Department of Community HealthBureau of Epidemiology2011 Annual Report

Birth Defects Program StaffDivision of Genomics, Perinatal Health, and Chronic Disease EpidemiologyJanice Bach, MS, CGCState Genetics CoordinatorJoan Ehrhardt, MS, CGCBirth Defects Program CoordinatorBethany Reimink, MPHBirth Defects EpidemiologistDivision of Vital Records and Health StatisticsGlenn Copeland, MBADirector, Michigan Birth Defects RegistryWon Silva, MAManager, Michigan Birth Defects RegistryLorrie Simmons, RHITQuality Improvement CoordinatorSupported by Cooperative Agreement #1U50DD000615-01 for Improving Birth Defects Surveillance inMichigan Through Enhanced Data Quality, from the Centers for Disease Control and Prevention (CDC),National Center on Birth Defects and Developmental Disabilities.For more information or to request additional copies of this report:(517) 335-8887 or Toll Free (866) dch, click on Statistics & Reports then Birth Defects2

AcknowledgementsState of MichiganGovernor, Rick SynderMichigan Department of Community HealthDirector, Olga DazzoPublic Health AdministrationDeputy Director, Jean C. ChabutBureau of EpidemiologyDirector, Corinne Miller, PhD, DDSDivision of Genomics, Perinatal Health, and Chronic Disease EpidemiologyDirector, Violanda Grigorescu, MD, MSPHWe would like to thank everyone from the MBDR staff, Lesa Feher, Charlotte Sanford, WendyStinnett, and JiQiang Xiu, for their assistance in maintaining the registry and the Vital Records andHealth Statistics staff, Maria Abrigo, Kay Bertrau, Kim Rohrbacher, Helen Sanders, and PhyllisStrong, for birth and death file linkages and coding and for EBC reporting. We thank all ofMichigan s reporting facilities hospitals, cytogenetic laboratories, and pediatric and reproductivegenetic centers for their time and effort to provide the case reports that are essential to the successof the registry.We thank the members of the MDCH Birth Defects Steering Committee and partner programs fortheir advice and counsel on registry goals, directions, and assistance and coordination with registryefforts:Children s Special Health Care ServicesEarly Hearing Detection and InterventionEarly On FAS Prevention ProjectNewborn ScreeningPregnancy Risk Assessment Monitoring SystemWIC Nutrition ProgramFetal & Infant Mortality ReviewWe would also like to thank Coleen Boyle, Adolfo Correa, Cara Mai, Leslie O Leary, and BillParadies from the National Center on Birth Defects and Developmental Disabilities for theirguidance and support and their work to provide coordination and focus to population-basedregistries throughout the country.3

Table of ContentsAcknowledgements3Executive Summary6Introduction8Public Health Impact of Birth Defects8Michigan s Birth Defects Program9Prevention9Monitoring9Follow-up12Technical Notes and Definitions14Technical Notes14Definitions15Birth Defect Prevalence and Trends16Selected Birth Defects Rates 1992-200619Neural Tube Defects20Orofacial Clefts22Down Syndrome24Fatality and Mortality in Children with Birth Defects26A Closer Look: Congenital Heart Defects28Studies and Publications33State and National Resources34References37Appendices394

Index of Tables & FiguresTables1. Audit results by facility type of reported cases: Retrospective facility audit, 2009-2010122. Prevalence of selected birth defects in Michigan, diagnosed by one year of age, 1992-2006193. Prevalence rate of neural tube defects stratified by selected demographic variables214. Prevalence rate of orofacial clefts stratified by selected demographic variables235. Prevalence rate of Down syndrome stratified by selected demographic variables256. Infant fatality and mortality rates for Michigan children with selected birth defects,2004-2006267. Prevalence rate of congenital heart defects by race29Figures1. Three year moving average of all birth defects reported to MBDR by one year of age,1992-2006162. Distribution of birth defect categories in Michigan, 2006163. Three year moving average of all birth defects reported by one year of age, by maternalrace/ethnicity174. Three year moving average of all birth defects reported by one year of age, by maternalrace/ethnicity and prematurity175. Three year moving prevalence rate of all birth defects reported by one year of age, bymaternal age186. Three year moving prevalence rate of all birth defects reported by one year of age, bymaternal age and prematurity187. NTDs: anencephaly, encephalocele, and spina bifida208. Three year moving prevalence rates of neural tube defects209. Cleft lip and cleft palate2210. Three year moving prevalence rates of orofacial clefts2211. Down syndrome2412. Three year moving prevalence rates of Down syndrome2413. Three year moving average of major congenital heart defects by race2814. Three year moving average of major congenital heart defects by maternal race and age3015. Three year moving average of major congenital heart defects by race and prematurity3116. Five year moving average of infant fatality rates for major CHD by race325

Executive SummaryThis report presents an overview of the Birth Defects Program at the Michigan Department ofCommunity Health (MDCH). The program aims to monitor trends, promote prevention, and linkfamilies to resources. Statewide surveillance data from the Michigan Birth Defects Registry (MBDR)are included for the birth cohort years of 1992 to 2006, along with in-depth analyses of neural tubedefects (NTD), orofacial clefts, Down syndrome (trisomy 21), and congenital heart defects (CHDs).Michigan s formalSurveillance surveillance system formonitoring the occurrence of birth defectsbegan in 1987 when the public health codewas amended by Act 48 (Public Act 368) torequire establishment of a birth defectsregistry. Case reporting began in 1992 andcontinues today as a passive system thatrelies on reporting from hospitals,cytogenetic laboratories and pediatricgenetics clinics for case ascertainment.Goals of the Michigan Birth Defects Registry1) Maintain, improve and expand Michigan spopulation-based birth defects surveillance system.2) Use surveillance data to plan and implementpopulation-based birth defects prevention activities.3) Use surveillance data to improve access tohealth services and early intervention programs forchildren with birth defects and their families.During 2006, there were 10,605 children with birth defects reported to MBDRPrevalence within the first year of life, which corresponds to an incidence rate of 831.5 casesper 10,000 resident live births, or approximately 8% of the annual birth cohort of 127,537 Michigannewborns. Anomalies of the heart and circulatory system constitute about 21% of the birth defectsreported to the MBDR, while anomalies of the musculoskeletal system make up 20%, and anomaliesof the genitourinary system make up 17% of the birth defects reported to the MBDR.Analysis of selected MBDR data to determine birth defect prevalence shows an overall rate of 6.3neural tube defects, 15.6 orofacial clefts, and 11.4 cases of Down syndrome, all per 10,000 live birthsfrom 1992 to 2006. Trends by birth year, sex, maternal age, and maternal race and ethnicity arepresented in this report.The infant death rate for children born from 2004 to 2006 with a reportable birthMortality defect was 35.6 deaths per 1,000 infants diagnosed with a birth defect. This comparesto an infant death rate of 7.6 deaths per 1,000 live births for all resident infants. The data highlightand reinforce the need to address birth defects as part of public health efforts aimed at reducinginfant mortality.The follow-up component of the Birth Defects Program helps to link families withFollow-Up available resources and support systems. Follow-up with families of infants withNTDs, in particular, helps to assure they receive available services and that mothers are aware of theincreased doses of folic acid needed to reduce the chance of recurrence of NTD in futurepregnancies. A list of available state and national resources for families of children with birthdefects is included at the end of this report.6

A closer look at congenital heart defects (CHDs) reveals that there is a disparityin the overall prevalence rate of CHDs in blacks compared to whites; the CHDrate is about 20% higher in blacks, compared to whites. From 1992 to 2006, the CHD rate in whiteswas about 145 cases per 10,000 live births, while for blacks, it was about 201 cases per 10,000 livebirths. Data from the MBDR reveal that some CHDs, such as ventricular septal defect (VSD),aortic valve stenosis, and transposition of great vessels, are more common in whites, while others,such as atrial septal defect (ASD), patent ductus arteriosus (PDA), and pulmonary artery anomalies,are more common in blacks. In the Closer Look section, prevalence rates of heart defects areanalyzed by race, maternal age, and preterm births and infant fatality CHD rates are analyzed byrace.A Closer LookIn the realm of birth defects, there are often more questions than answersPrevention concerning causality and prevention. However, certain strategies, such as maternalconsumption of folic acid before conception and early in pregnancy, or controlling blood sugarlevels for mothers with diabetes before and during pregnancy, are known to be effective in reducingthe risk of birth defects. The Birth Defects Program supports a variety of outreach activities to helpwomen of reproductive age know the importance of achieving and maintaining optimal health priorto conception in order to optimize babies health.The data, analyses and program information outlined in this report represent someA Sound of the endeavors undertaken by staff members over the past years. Birth defectsInvestment surveillance is a sound investment in the current and future health of all Michiganresidents. The MDCH Birth Defects Program will continue working to improve health outcomesfor Michigan babies by collecting and analyzing data to better understand causes and demographicpatterns; by decreasing preventable birth defects; and by linking affected children and their familiesto services.7

IntroductionThis third annual birth defects report is based on data collected by the Michigan Birth DefectsRegistry (MBDR) from 1992 to 2006. The registry covers more than 1,050 diagnoses reported onchildren from birth through two years of age. The annual report serves as a way to share MBDRfindings with partners and stakeholders concerned about Michigan infants and children with specialhealth needs. The first report, produced in 2005, reviews the history of the registry, provides a focuson neural tube defects, and highlights demographic data on orofacial clefts, Down syndrome, andcongenital heart defects. The second report, produced in 2006, provides a focus on infants withhearing loss, and demographic data on musculoskeletal defects, neural tube defects, orofacial clefts,and Prader-Willi syndrome. This third report provides a focus on the racial disparity in theprevalence of congenital heart defects and provides demographic data on neural tube defects,orofacial clefts, and Down syndrome. These reports can be accessed online under Statistics andReports at Birth Defects Team recognizes the support and direction provided by the Centers for DiseaseControl and Prevention (CDC), National Center on Birth Defects and Developmental Disabilities,which has done so much in advancing the development and sustaining of Michigan s birth defectssurveillance.Public Health Impact of Birth DefectsBirth defects are a serious public health problem in Michigan and across the nation. During 2006,there were 10,605 children with birth defects reported to the MBDR in the first year of life. Thiscorresponds to a prevalence of 831.5 cases per 10,000 resident live births, or approximately 8% ofthe 127,537 Michigan newborns in 2006.1 Birth defects contribute significantly to childhoodmortality, morbidity, and long-term disability. The infant fatality rate for children born in 2006 witha reportable birth defect was 32.8 deaths per 1,000 infants with a birth defect. This compares to aninfant death rate of 7.4 deaths per 1,000 live births for all resident infants born in Michigan for thesame year.2 Recent analysis of MBDR surveillance data reveals that children with birth defects are atmuch greater risk of death due to causes other than a birth defect (for example, accidental causes).3The total mortality rate over ten years of life, for those born in 1997 and reported to the MBDR,was 59.6 deaths per 1,000 children with a birth defect, compared to a rate of 10.5 deaths per 1,000resident live births overall. This is higher than the 1 in 5 infant deaths usually attributed to birthdefects based on death records alone and emphasizes the need for greater attention on the impact ofbirth defects as a cause of early childhood death.Children with birth defects often require highlyspecialized and expensive medical care. Support In 2006, the fatality rate was 32.8 deaths per1,000 babies reported with birth defects, comparedfor the family and affected child may beprovided not only by a primary care physician in to 7.4 deaths per 1,000 live births for all infants.a medical home and by a variety of medicalspecialists, but also by adjunct health services, the educational system, community and socialorganizations, and local or national programs. The ability to use comprehensive data on theincidence and types of birth defects affecting Michigan children will lead to a better understandingof total health care and educational costs for this population; prevention and intervention strategiesto reduce both the financial and emotional burden on families and society; and an improvement inthe quality of life for affected children and their families.8

Michigan s Birth Defects ProgramPREVENTIONData from the MBDR is used to effectively plan and implement prevention activities. Preventionactivities to promote good preconception health include: multivitamin distribution; creation anddistribution of teen related fact cards raising awareness of the risk of adverse birth outcomes relatedto having uncontrolled diabetes mellitus; partnering with other programs such as Michigan HealthyMothers, Healthy Babies, March of Dimes, and local public health; distribution of educationalmaterials; and participation in the National Birth Defects Prevention Network (NBDPN),promoting Birth Defects Prevention Month.From 2005 to 2007, the Birth Defects Program received a chapter communitygrant award from the March of Dimes, Michigan Chapter, to support a folicacid outreach initiative, with additional support from the Children s SpecialHealth Care Services Program to continue through 2008. The project, FolicAcid Outreach and Multivitamin Distribution in Selected Michigan Counties, providedmore than 40,000 bottles of free multivitamins with folic acid to low incomewomen participating in the Supplemental Nutrition Program for Women,Infant and Children (WIC) and Family Planning Programs in counties identifiedwith the highest rates of neural tube defects. As a result of this project, womenreported that they would likely continue multivitamin use (buy their own) afterfinishing their free supply.From 2008 to 2009, the Birth Defects Program received a March of Dimes chapter CommunityGrant for a project, Teens with Diabetes Mellitus: Promoting Preconception Care to Prevent Adverse PregnancyOutcomes. Surveys assessed teens and parents awareness and concerns with the risks of adversepregnancy outcomes related to having uncontrolled diabetes prior to pregnancy as well as routineactivities related to having diabetes (such as receiving diabetes information, frequency of doctorvisits). Health care providers were surveyed to assess visits with diabetic patients and informationgiven to patients. Results revealed that only about 45% of teens and 55% of parents who respondedwere aware of the risks of adverse birth outcomes related to uncontrolled diabetes. As a result, afact card directed at teens, The Birds and the Bees and Diabetes, was created in English and Spanish,and a preconception toolkit for health professionals was created to provide information onreproductive risks and birth defects, management guidelines before and during pregnancy, andprevention educational resources aimed at teens and women of child bearing age.MONITORINGStatewide monitoring of birth defects is conducted by the Michigan Birth Defects Registry (MBDR)in the Division of Vital Records and Health Statistics. The confidential registry is a passive systemof ascertainment that relies on reports submitted by all Michigan hospitals and cytogeneticlaboratories. Initiatives for voluntary case reporting to the MBDR by outpatient pediatric geneticclinics, and others, have contributed additional cases of birth defects that would otherwise havegone undetected. About 10,000 Michigan children are born annually with birth defects or otherreportable conditions. The MBDR currently contains about 450,000 reports on more than 141,000individual children born from 1992 to 2006. Epidemiology and vital records staff analyze registrydata and conduct special studies to better understand the impact of birth defects on public health.9

The Michigan Birth Defects Registry (MBDR)The purpose of the MBDR is to:Collect statistical data on the incidence of birth defects in Michigan.Conduct birth defects surveillance and epidemiologic studies on the causes of birth defects.Provide data for birth defect prevention and intervention efforts, program planning andevaluation.Assure that children with birth defects and their families receive appropriate support services.Examples of uses for MBDR data include monitoring the rate and types of birth defects in specificgeographic areas, planning and evaluating service delivery to children with special needs, targetingbirth defects prevention activities and conducting scientific research on the etiology of birth defects.Reportable ConditionsThe MBDR currently collects information on children from birth totwo years of age who have a reportable condition and were born inMichigan or were diagnosed or treated for the condition in Michigan.Reportable diagnoses include all congenital anomalies of consequence,genetic disorders presenting at birth or in early childhood, and selectedmaternal exposures to infectious disease and other teratogenic agents such as alcohol. The MBDRincludes in the case definitions all those birth defects identified in the NBDPN s Guidelines forConducting Birth Defects Surveillance Appendix 3.1, by ICD-9-CM code. Previously, only liveborn children were included in the registry, but since June 1, 2003, fetal deaths with any of theseconditions are also reportable to the registry. Condition coding is accomplished using the currentyear version of the Ninth Revision of the International Classification of Diseases: ClinicalModification (ICD-9-CM). A manual that includes a list of reportable ICD-9 codes, enablinglegislation and reporting instructions is provided to hospitals, cytogenetic laboratories and otherreporting facilities. A list of reportable ICD-9 codes by diagnostic category is included as AppendixB.Currently, the Birth Defects Team is working to update the rules regulating birth defect reporting.This includes establishing the authority to expand the range for age at diagnosis for selectedconditions, redefining what conditions are reportable by using terms rather than diagnostic codes,and expanding the ability of the MBDR to include specialized reporting sources and to designateagencies other than MDCH to act on behalf of the MBDR. These changes are expected to improvethe effectiveness of the registry as a monitoring system for conditions such as fetal alcoholsyndrome, autism, developmental delay, and others that typically become apparent later in childhoodand to enhance our ability for collaborative outreach efforts.Reporting MethodsSince the MBDR relies on data collected through passive case ascertainment, staff members helpfacilities to identify the reporting method best suited to their needs. Methods of reporting cases tothe registry include:Paper Abstract: This method uses a standardized form in paper abstract for hospitaladmissions and cytogenetic laboratory results.10

Electronic Submission: This method uses facility discharge data to create an electronicrecord of children admitted with reportable conditions.Electronic Birth Certificate (EBC): This method utilizes Genesis, the software commonlyused to create electronic birth records for children born at a facility.Roughly 85% of all reports are received in electronic form, with about half of those being receivedthrough EBC and half as hospital-specific data files. Report processing procedures include deduplicating and consolidating case reports, report review and query, coding and editing reportedinformation and linking case information to Michigan birth and death files. Data from all threesources (reports, births and deaths) are used to develop a complete record on each case.As an important public health indicator, birth defect reporting is mandated by state law and parentalconsent is not required in order to file a report. However, both law and rule establish that these dataare confidential. Privacy and security considerations are integral to all procedural steps to assureconfidentiality of information. Access to MBDR data is limited to essential registry personnel andother departmental staff whose programmatic use of the information has been approved by theDepartment director. Rules governing the MBDR specify the conditions and approval processesunder which this information may be released.Electronic Training ModuleA web-based training module was developed and implemented in January 2006 to assist staff intraining facility personnel who submit case reports. The Birth Defects Registry online trainingcourse discusses the value of the MBDR and teaches individuals how to complete both the paperbased and electronic reporting forms. Now, the training module has had more than 376 users and658 sessions have been logged. A link to the training module can be found uality AssuranceConcurrent internal monitoring assures that incoming reports are screened for missing and invalidinformation as they are processed into the registry. MBDR staff compares demographicinformation on birth defects reports with that in birth and death records. They may contactreporting facility staff to correct and complete all data before they are linked with birth and deathfiles. To further improve the accuracy and completeness of case ascertainment, the MBDR is linkedwith other public health program datasets. Linkages with the MBDR include: 1) data linkage withChildren s Special Health Care Services Program (CSHCS); 2) case sharing of hearing loss diagnoseswith the Early Hearing Detection and Intervention Program (EHDI); 3) acquiring confirmed casesfrom the Newborn Screening Program (NBS); 4) continued reporting from four pediatric geneticsclinics; and 5) voluntary reporting from Fetal and Infant Mortality Review Program (FIMR). Theselinkages help to assure that the MBDR is as complete and accurate as possible.Reporting facilities are monitored for method, accuracy, and completeness of case reporting.Unreported cases are identified and submitted to the MBDR. Subsequently, education and technicalsupport are provided to ensure reporting facilities are in compliance with legislative mandates.Retrospective facility audits are conducted every three to four years to assess statewide performancein the reporting of birth defects and to identify opportunities for improvement. In the 1999 audit,11

81.1% of the reported cases reviewed had information in the health record consistent with theinformation submitted to the registry, and in the 2003 audit, an accuracy rate of 95.0% was foundfor cases reviewed. The retrospective facility audit was conducted in 2009-2010, and includedreview of 550 case records from seven representative reporting facilities (Table 1). From this audit,71.6% of sampled reports were accurate but most errors were due to demographic discrepancies(n 97). A total of 33 false positives were found for a false detection rate of 6.0%.Besides quality improvement for birth defects reporting, an audit with on-site chart review allows forfurther investigation into issues affecting quality of life for children with birth defects, such aspatterns of referral to needed services and access to coordinated, comprehensive medical care. Moreinformation on these audits can be found in the inaugural MBDR Report: Birth Defects Prevalenceand Mortality in Michigan, 1992-2002.Table 1: Audit results by facility type for reported cases: Retrospective facility audit, emographic DiagnosticFalseReports AccurateSampledErrorsErrorsPositivesMinor Obstetrical18825613838316Major Obstetrical104126871511Regional NICU1208991016211Major s reviewed were from 2006 admission dates, except where it was necessary to pullfrom other admission years to get an adequate sample.Facility TypeMBDR EvaluationRecommendations for state birth defects surveillance systems are put forth by the National BirthDefects Prevention Network (NBDPN), Guidelines for Conducting Birth Defects Surveillance. 4An evaluation of the MBDR was conducted in 2005 to 2006, broadly following the UpdatedGuidelines for Evaluation of Public Health Surveillance Systems. 5 These guidelines suggestevaluation of the following system attributes: simplicity, flexibility, data quality, acceptability,sensitivity, positive predictive value (PPV), representativeness (how well cases reported represent thepopulation as a whole), timeliness of reporting, and stability of the system over time.6 Moreinformation on facility audits and the surveillance system evaluation can be found in prior MBDRreports: Birth Defects Prevalence and Mortality in Michigan, 1992-2002, and Birth DefectsPrevalence and Mortality in Michigan, 1992-2003 available online by clicking on Statistics andReports at: integral component of a comprehensive Birth DefectsSurveillance Program is follow-up to ensure that children areconnected with services and that the needs of families are met. Theprogram strives to: 1) identify the special needs of children withbirth defects, and 2) assure families are connected to resources andsupport systems. Providing information to families in a timelymanner, while preserving the privacy of birth defects data, is a12

priority. Among the key needs identified by families of children with birth defects are medicalinformation and services, family emotional and spiritual support, advocacy, and preventioninformation.Starting in 2004, the Birth Defects Program developed a follow-upplan for infants with neural tube defects (NTD) and their families.Additionally, MBDR data is used to identify children with hearing loss.Inter-program cooperation with the MDCH Early Hearing Detectionand Intervention (EHDI) Program allows for review of hearing losscases reported to the MBDR. The EHDI program is then able tofollow-up with confirmed cases by referring diagnostic andintervention services.A pilot project using MBDR data to identify children who might benefit from early interventionservices and were not enrolled in Early On , Michigan s early intervention system for young childrenfrom birth to three years of age, was conducted in 2007. These activities make use of surveillancedata to provide assistance to children and families.To help all families of children with birth defects locate the resources they need, theprogram maintains a Genetics Resource Center that includes a support group directory,located at A pamphlet, Resources for Families of Infantsand Toddlers with Special Health Needs, is available at no cost to hospitals, healthprofessionals, and families. Registry staff identified gaps in existing referral systems andas a result, staff developed a Birth Defects Referral Toolkit for health care providerscontaining comprehensive information about the resources and services available forfamilies of children with birth defects and genetic conditions. Also, staff participates inthe development and presentation of Genetics Trainings for parents and healthproviders through the Michigan Family to Family Health Information & EducationCenter.13

Technical N otes and DefinitionsTechnical NotesImportant factors to consider when viewing MBDR dataAnalyses presented in the body of this report are based on cases reported to the MBDR with atleast one reportable birth defect alone, by one year of age.Frequencies include all children reported with a birth defect who were born in Michigan andwhose mother was a resident of Michigan at the time of birth. This enables the calculation ofbirth defects prevalence rates.Columns do not add to diagnostic group totals nor column totals due to cases with multiplediagnosed conditions that cross diagnostic groupings.Conditions are reportable if identified within the first two years of a child s life.Diagnoses are coded using the 9th revision to the International Classification of DiseasesICD-9-CM.Diagnostic Code Groupings used for congenital anomaly codes are as those used by the Centersof Disease Control and Prevention (CDC).Case AscertainmentThe MBDR relies on a passive system of reporting. Birth defects casesare reported by independent sources, that is, medical facilities andlaboratories. The medical information obtained in the form of a casereport generally is accepted as reported. In an active surveillancesy

Glenn Copeland, MBA Director, Michigan Birth Defects Registry Won Silva, MA Manager, Michigan Birth Defects Registry Lorrie Simmons, RHIT Quality Improvement Coordinator For more information or to request additional copies of this report: (517) 335-8887 or Toll Free (866) 852-1247 [email protected]