10115510730290Birth Defects Res A Clin Mol TeratolBirth Defects Res. Part A Clin. Mol. Teratol.Birth defects research. Part A, Clinical and molecular teratology1542-07521542-076024265125463600410.1002/bdra.23198HHSPA702834ArticleSelected Birth Defects Data from Population-Based Birth Defects Surveillance Programs in the United States, 2006 to 2010: Featuring Trisomy ConditionsMaiCara T.1*KucikJames E.1IsenburgJennifer2FeldkampMarcia L.3MarengoLisa K.4BugenskeErin M.2ThorpePhoebe G.1JacksonJodi M.1CorreaAdolfo5RickardRussel6AlversonC.J.1KirbyRussell S.7for the National Birth Defects Prevention NetworkNational Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, GeorgiaCarter Consulting, Atlanta, GeorgiaDivision of Medical Genetics, Department of Pediatrics, University of Utah Health Sciences Center, Salt Lake City, UtahBirth Defects Epidemiology and Surveillance Branch, Texas Department of State Health Services, Austin, TexasUniversity of Mississippi Medical Center, Jackson, MississippiColorado Department of Public Health and Environment, Denver, ColoradoCollege of Public Health, University of South Florida, Tampa, FloridaCorrespondence to: Cara Mai, National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, GA. CWM7@cdc.gov26102015112013061120159711709725INTRODUCTION

The annual National Birth Defects Prevention Network (NBDPN) Congenital Malformations Surveillance Report includes state-level data on major birth defects (i.e., conditions present at birth that cause adverse structural changes in one or more parts of the body) and a directory of population-based birth defects surveillance systems in the United States. Beginning in 2012, these annually updated data and directory information are available in an electronic format accompanied by a data brief. This year’s report includes data from 41 population-based birth defects surveillance programs and a data brief highlighting the more common trisomy conditions (i.e., disorders characterized by an additional chromosome): trisomy 21 (commonly referred to as Down syndrome), trisomy 18, and trisomy 13.

State-Specific Data Collection and Presentation for Selected Birth DefectsData collection

The NBDPN Data Committee, in collaboration with the Centers for Disease Control and Prevention (CDC), invited population-based birth defects surveillance programs in the United States to submit data on major birth defects affecting central nervous, eye, ear, cardiovascular, orofacial, gastrointestinal, genitourinary, and musculoskeletal systems, as well as trisomies, amniotic bands, and fetal alcohol syndrome. Table 1 lists these 47 conditions and their diagnostic codes (International Classification of Diseases, 9th Revision, Clinical Modification [ICD-9-CM]; and Centers for Disease Control and Prevention/British Pediatric Association Classification of Diseases [CDC/BPA]).

Participating state birth defects programs provided counts of all cases of the birth defects listed in Table 1 as well as counts of live births and male live births in their catchment areas for births occurring from January 1, 2006 through December 31, 2010. The cases for all defects were reported by maternal census race/ethnic categories: White non-Hispanic, Black/African-American non-Hispanic, Hispanic, Asian/Pacific Islander non-Hispanic, American Indian/Alaska Native non-Hispanic. Additionally, trisomy cases were provided by six categories of maternal age at delivery: less than 20 years, 20 to 24 years, 25 to 29 years, 30 to 34 years, 35 to 39 years, and 40+ years.

Data presentation

State-specific data from 41 population-based birth defects surveillance programs in the United States are available on-line S1-S121. Similar to the previous NBDPN annual reports, the data for each program are presented by 5 maternal racial/ethnic categories for all reported defects and by 2 maternal age categories (less than 35 years, 35+ years) for Down syndrome, trisomy 18, and trisomy 13. Prevalence for each condition was calculated from the following formula to obtain the prevalence per 10,000 live births: (total birth defect cases for any pregnancy outcome for × years/total live births for × years) * 10,000 (Mason et al., 2005). The total live birth denominator is used for all reported birth defects except for hypospadias, which is calculated using a denominator of total male live births.

This data report attempts to present state surveillance data that was uniformly collected; however, differences in program methodology for case ascertainment can be expected, such as the use of different diagnostic coding systems to classify birth defects and varying administrative data sources. Some of these state-specific methods are included in the footnotes of the accompanying tables, but a more detailed description is provided in the state birth defects surveillance program directory, available on-line S122-S172.

Highlighting Trisomies

This year’s data brief focuses on the three most common aneuploidies (Down syndrome, trisomy 18, and trisomy 13). Trisomy occurs when there is an extra chromosome resulting in 47 chromosomes instead of 46. Most cases of trisomy involve an extra chromosome in all cells (full trisomy), but sometimes the extra chromosome is only contained in some cells (mosaic trisomy) or just a part of the extra chromosome is present in the affected cells (partial trisomy) (Sherman et al., 2007).

Down syndrome is the most common of these three aneuploidies, occurring in approximately 1 in 691 live births in the United States (Parker et al., 2010). This is followed by trisomy 18, affecting approximately 1 in 3762 live births and trisomy 13, affecting approximately 1 in 7906 live births (Parker et al., 2010).

Ascertainment of trisomy cases among the population-based birth defects surveillance systems includes a range of prenatal and postnatal data sources. These can include administrative databases, such as hospital discharge data, vital records, and Medicaid databases; in-patient and out-patient medical records; and specialty facilities, such as cytogenetic laboratories and prenatal diagnostic facilities. Approximately one-third of the birth defects programs use trained staff or abstractors who review medical records for case finding (active case-finding) while approximately two-thirds rely on hospital reporting and/or administrative databases (passive case-finding). Some of the programs with passive case-finding methodology engage in follow-up activities to confirm the reported cases. State-specific data sources and methodologies are included in the state birth defects surveillance program directory, available on-line S122-S172.

Trisomy Data Presentation

Table 2 presents the counts and live birth prevalence for Down syndrome by six maternal age categories (Table 2a) and by maternal race/ethnicity (Table 2b). The list of states is grouped by pregnancy outcomes reported: live births only, live births and stillbirths, or all pregnancy outcomes. The same stratifications are presented for trisomy 18 and 13 in Tables 3 and 4, respectively. A graphical presentation of the pooled prevalence of state programs by pregnancy outcomes and maternal age group for the trisomies is presented in Figures 13. The states that contributed to the pooled prevalence are listed in Tables 2 to 4.

Table 5 highlights the change in prevalence of Down syndrome, trisomy 18 and trisomy 13 by pregnancy outcome during this data reporting period (2006–2010) compared with an earlier reporting period (2000–2004), as published in the 2007 NBDPN Annual Report (NBDPN, 2007).

DISCUSSIONData Sources

Variability in the observed prevalence of trisomies across states could be due to true differences; however, other reasons may account for the differences observed, including case ascertainment methodology, ability of a surveillance system to capture all affected cases, and state variations for risk factors such as the distribution of maternal age in these populations. State programs vary in the number and type of data sources used to capture cases. The NBDPN data request stipulated that the birth defect counts provided for the report must be based on multiple data sources (not just vital records); however, the number of additional data sources can differ depending on state legislation, data access, and resources. Cragan and Gilboa (2009) noted that the inclusion of prenatal records from perinatal offices and maternal-fetal medicine departments increased the prevalence of chromosomal abnormalities by over 30%. Similarly, Tao et al. (2013) reported an increase of nearly 8% of all cases of chromosomal abnormalities for the reporting years 2008– 2010 in the New York surveillance registry by including cytogenetic laboratory reports.

Pregnancy Outcomes

In addition to data sources, another possible variation in the reported prevalence is the inclusion of different pregnancy outcomes in the case definition. Approximately one-third of the birth defects programs ascertain cases among live births only, one-third ascertain cases among live births and still births, and the remaining one-third capture cases for all pregnancy outcomes. Several factors affect a program’s decision to identify cases among pregnancy ending in nonlive births, such as program purpose, legal authority, and the availability of data. For example, a program designed to provide follow-up services for affected individuals might only ascertain cases among live births.

However, to understand the full impact of trisomies on the population, it is important to consider all pregnancy outcomes. The pooled prevalence from states with all pregnancy outcomes consistently show a higher prevalence, as presented in Figures 13, than the pooled prevalence from states with live births only or states with live births and stillbirths. Crider et al. (2008) reported a prevalence of trisomy 18 among live births only at 1.16 cases per 10,000 live births; among all pregnancy outcomes combined (live births, stillbirths, and elective terminations), the prevalence increased to 4.01 cases per 10,000 live births. Similarly, the prevalence of trisomy 13 changed from 0.63 per 10,000 live births for live births only to 1.57 per 10,000 live births for all pregnancy outcomes combined. Jackson et al. (2013) also reported a shift in the prevalence of Down syndrome from 11.5 per 10,000 live births for cases among live births only to 16.3 per 10,000 live births for cases among all pregnancy outcomes.

Prenatal Testing

Prenatal testing allows for a more accurate ascertainment of cases by surveillance systems, especially if they are diagnosed and captured in medical records. Prenatal diagnostic testing and elective termination have been shown to affect the live birth prevalence of Down syndrome (Mikkelsen, 1992; Cornel et al., 1993; Krivchenia et al., 1993; Bishop et al., 1997; Forrester and Merz, 1999) and of trisomies 18 and 13 (Crider et al., 2008). Noninvasive screening methods such as maternal protein serum assays and ultrasound have become more accurate and are being used with increasing frequency (Baker et al., 2004; Benn et al., 2004; Ekelund et al., 2008; Nakata et al., 2010). Additionally, a recent method of noninvasive prenatal testing that uses cell free fetal DNA collected from maternal blood has recently been used to screen for Down syndrome, trisomy 18, and trisomy 13 (Langlois et al., 2013). This method shows much promise as a screening tool and will likely result in a change in prevalence if early terminations are missed by states that capture all pregnancy outcomes. The data presented in this data report are not affected by cell free fetal DNA analysis because this screening tool was not commonly used/ employed until recently; however, as all noninvasive prenatal screening and testing methods increase in use, the effect on prevalence estimates derived from population-based birth defects surveillance systems will need to be monitored. The frequency with which prenatal detection results in elective pregnancy termination varies among states; opinions about and the use of elective pregnancy termination have been shown to differ by age, race/ethnicity, religion, socioeconomic status, marital status, and type of health insurance (Harris and Mills, 1985; Jones et al., 2010; Pazol et al., 2011).

Maternal Age

Maternal age is the most consistent risk factor associated with increased prevalence (Hecht and Hook, 1996; Mikkelsen, 1985). As expected, the prevalence consistently increases by maternal age as shown in Figures 13. However, surveillance systems that do not collect cases from all pregnancy outcomes are more likely to under-ascertain cases in the older maternal age groups than in the younger groups; this is more pronounced for trisomy 18 and 13 than for Down syndrome. The data suggest that pregnancy loss (e.g., stillbirths, terminations) is more common among advanced maternal age groups. Previous studies have shown an increased risk of stillbirths as well as increased usage of prenatal testing in women 35 years and older (Reddy et al., 2006; Crider et al., 2008; Jackson et al., 2011).

The maternal age distribution in the United States has shifted toward older ages over the past few decades (Martin et al., 2012); however, during the birth period included in this report (2006–2010), this trend has remained relatively stable. Although advanced maternal age is a known risk factor for trisomy, advanced paternal age has not been observed to be an independent risk factor after adjusting for maternal age (Janerich and Bracken, 1986; De Souza and Morris, 2010).

Maternal Race/Ethnicity

There appears to be modest variation in the prevalence of trisomy 13 and 18 by race/ethnicity, but previous reports have not been consistent. Crider et al. (2008) found the highest prevalence for each among non-Hispanic whites, but others found a lower or no difference in prevalence among non-Hispanic whites compared with Hispanics and non-Hispanic blacks (Canfield et al., 2006; Kucik et al., 2012). Variation in prevalence of Down syndrome by race/ethnicity has been more consistently reported. The prevalence among Hispanics is significantly higher than among non-Hispanic whites, particularly among births to mothers 35 years or older (CDC, 1994; Canfield et al., 2006; Agopian et al., 2012; Kucik et al., 2012), while non-Hispanic black women have the lowest observed prevalence. These differences may be related to differential use of prenatal diagnostic services (Kupper-mann et al., 1996, 2006). Jackson et al. (2013) suggest that biological causes, such as maternal age, as well as social factors, such as attitudes regarding elective termination and access to care, might contribute to the race/ethnicity differences observed in the prevalence of Down syndrome.

Trends in Prevalence and Survival

Information on trends in prevalence of trisomy 18 and 13 is sparse (Crider et al., 2008), but the increasing prevalence of Down syndrome has been documented previously (Shin et al., 2009; Cocchi et al., 2010). This report provides evidence that this trend continues for Down syndrome, trisomy 18, and trisomy 13. Compared with birth prevalence estimates reported in the 2007 Annual report of the NBDPN, an increase in the pooled prevalence was noted for all three trisomy groups as reported by state programs that included all pregnancy outcomes and by those that reported live births and still births (Table 5) (NBDPN, 2007). The pooled prevalence among states that reported only live births increased for Down syndrome and trisomy 18 but declined slightly for trisomy 13. From 1979 to 2003, Shin et al. (2009) reported an increase in the live birth prevalence for Down syndrome from 9.0 to 11.8 per 10,000 live births, so the live birth prevalence in this report supports a continuing increase.

Although trisomy 13 and 18 are nearly always fatal (Rasmussen et al., 2003; Vendola et al., 2010), the improved survival of those born live with Down syndrome has been previously documented (Kucik et al., 2013; Zhu et al., 2013) with the most recent 1-year survival probability (birth period 1997–2003) estimated as high as 94% (Kucik et al., 2013). The greatest survival improvement has been observed among those individuals with Down syndrome born of low birth weight or with a co-occurring congenital heart defect (Kucik et al., 2013; Zhu et al., 2013), which is the leading cause of death among infants and children with Down syndrome (Shin et al. 2007; Zhu et al., 2013).

CONCLUSIONS

This data report provides state-specific birth defects data from 41 population-based birth defects surveillance programs in the United States and continues to be an important data source to understand the impact of these conditions. The focus on trisomy conditions highlights continuing trends and underscores the importance of accounting for differences in ascertainment and reporting practices to fully understand the variation in prevalence by state. With the increasing prevalence of trisomies and improved survival of affected individuals, this report serves as an important notice to clinicians, health officials, and health care planners of the growing public health importance of trisomies; additionally, it suggests the need for more research on the role of prenatal detection in improving postnatal health and health service planning that addresses the lifetime needs of a growing population.

Supplementary Material

Additional Supporting Information may be found in the online version of this article.

ACKNOWLEDGMENTS

We thank the state birth defects surveillance programs that submitted data for this report: Alaska Birth Defects Registry; Arkansas Reproductive Health Monitoring System; Arizona Birth Defects Monitoring Program; California Birth Defects Monitoring Program; Colorado Responds To Children With Special Needs; Delaware Birth Defects Surveillance Project; United State Department of Defense (DoD) Birth and Infant Health Registry; Florida Birth Defects Registry; Metropolitan Atlanta Congenital Defects Program; Iowa Registry For Congenital and Inherited Disorders; Illinois Adverse Pregnancy Outcomes Reporting System; Indiana Birth Defects & Problems Registry; Kansas Birth Defects Information System; Kentucky Birth Surveillance Registry; Louisiana Birth Defects Monitoring Network; Massachusetts Center for Birth Defects Research and Prevention; Maryland Birth Defects Reporting and Information System; Maine Birth Defects Program; Michigan Birth Defects Registry; Minnesota Birth Defects Information System; Missouri Birth Defects Surveillance System; Mississippi Birth Defects Registry; North Carolina Birth Defects Monitoring Program; North Dakota Birth Defects Monitoring System; Nebraska Birth Defects Registry; New Hampshire Birth Conditions Program; New Jersey Special Child Health Services Registry; Nevada Birth Outcomes Monitoring System; New York State Congenital Malformations Registry; Ohio Connections for Children with Special Needs; Oklahoma Birth Defects Registry; Puerto Rico Birth Defects Surveillance and Prevention System; Rhode Island Birth Defects Program; South Carolina Birth Defects Program; Tennessee Birth Defects Registry; Texas Birth Defects Epidemiology and Surveillance Branch; Utah Birth Defect Network; Virginia Congenital Anomalies Reporting and Education System; Vermont Birth Information Network; Washington State Birth Defects Surveillance System; Wisconsin Birth Defects Registry; and West Virginia Congenital Abnormalities Registry, Education and Surveillance System. The findings and conclusions in this report are those of the authors and do not necessarily represent the official position of the Centers for Disease Control and Prevention.

REFERENCESAgopianAJMarengoLKMitchellLEPredictors of trisomy 21 in the offspring of older and younger womenBirth Defects Res A Clin Mol Teratol201294313522125229BakerDTeklehaimanotSHassanRGuzeCA look at a Hispanic and African American population in an urban prenatal diagnostic center: referral reasons, amniocentesis acceptance, and abnormalities detectedGenet Med2004621121815266209BennPAEganJFFangMSmith-BindmanRChanges in the utilization of prenatal diagnosisObstet Gynecol20041031255126015172861BishopJHuetherCATorfsCEpidemiologic study of Down syndrome in a racially diverse California population, 1989–1991Am J Epidemiol19971451341479006310CDCDown syndrome prevalence at birth-United States, 1983–1990MMWR Morb Mortal Wkly Rep1994436176228065293CanfieldMAHoneinMAYuskivNNational estimates and race/ethnic-specific variation of selected birth defects in the United States, 1999–2001Birth Defects Res A Clin Mol Teratol20067674775617051527CocchiGGualdiSBowerCInternational trends of Down syndrome 1993–2004: Births in relation to maternal age and terminations of pregnanciesBirth Defects Res A Clin Mol Teratol20108847447920589916CornelMCBreedASBeekhuisJRDown syndrome: effects of demographic factors and prenatal diagnosis on the future livebirth prevalenceHum Genet1993921631688370583CraganJDGilboaSMIncluding prenatal diagnoses in birth defects monitoring: experience of the Metropolitan Atlanta Congenital Defects ProgramBirth Defects Res A Clin Mol Teratol200985202919089857CriderKSOlneyRSCraganJDTrisomies 13 and 18: population prevalences, characteristics, and prenatal diagnosis, metropolitan Atlanta, 1994–2003Am J Med Genet A200814682082618348276De SouzaEMorrisJKEUROCAT Working GroupCase-control analysis of paternal age and trisomic anomaliesArch Dis Child20109589389720584846EkelundCKJorgensenFSPetersenOBImpact of a new national screening policy for Down’s syndrome in Denmark: population based cohort studyBMJ2008337a254719039015ForresterMBMerzRDPrenatal diagnosis and elective termination of Down syndrome in a racially mixed population in Hawaii, 1987–1996Prenat Diagn19991913614110215071HarrisRJMillsEWReligion, values and attitudes toward abortionJ Sci Study Relig198524119236HechtCAHookEBRates of Down syndrome at livebirth by one-year maternal age intervals in studies with apparent close to complete ascertainment in populations of European origin: A proposed revised rate schedule for use in genetic and prenatal screeningAm J Med Genet1996623763858723068JacksonJMCriderKSRasmussenSATrends in cytogenetic testing and identification of chromosomal abnormalities among pregnancies and children with birth defects, Metropolitan Atlanta, 1968–2005Genet Med2011158A116123JacksonJMCriderKSRasmussenSAFrequency of prenatal cytogenetic diagnosis and pregnancy outcomes by maternal race-ethnicity and the effect on the prevalence of trisomy 21, Metropolitan Atlanta, 1996–2005Am J Med Genetin pressJonesRKFinerLBSinghSCharacteristics of U.S. abortion patients, 20082010New York, NYGuttmacher InstituteJanerichDTBrackenMBEpidemiology of trisomy 21: a review and theoretical analysisJ Chronic Dis198639107910932947908KucikJEShinMSiffelCCongenital Anomaly Multistate Prevalence and Survival CollaborativeTrends in survival among children with Down syndrome in 10 regions of the United StatesPediatrics2013131e27e3623248222KucikJEAlversonCJGilboaSMCorreaARacial/ethnic variations in the prevalence of selected major birth defects, metropolitan Atlanta, 1994–2005Public Health Rep2012127526122298922KrivcheniaEHuetherCAEdmondsLDComparative epidemiology of Down syndrome in two United States population, 1970–1989Am J Epidemiol19931378158288484373KuppermannMGatesEWashingtonAERacial-ethnic differences in prenatal diagnostic test use and outcomes: Preferences, socioeconomics, or patient knowledge?Obstet Gynecol1996876756828677066KuppermannMLearmanLAGatesEBeyond race or ethnicity and socioeconomic status: predictors of prenatal testing for Down syndromeObstet Gynecol20061071087109716648415LangloisSBrockJAGenetics CommitteeCurrent status in non-invasive prenatal detection of Down syndrome, trisomy 18, and trisomy 13 using cell-free DNA in maternal plasmaJ Obstet Gynaecol Can20133517718123470070MasonCAKirbyRSSeverLELangloisPHPrevalence is the preferred measure of frequency of birth defectsBirth Defects Res A Clin Mol Teratol20057369069216240384MartinJAHamiltonBEVenturaSJBirths: Final data for 20102012National Center for Health StatisticsMikkelsenMBergKDown anomaly: new research of an old and well known syndromeMedical genetics: past, present, future1985New YorkAlan R. LissMikkelsenMThe impact of prenatal diagnosis on the incidence of Down syndrome in DenmarkBirth Defects Orig Artic Ser19922844511489956NakataNWangYBhattSTrends in prenatal screening and diagnostic testing among women referred for advanced maternal agePrenat Diagn20103019820620063323NBDPNPopulation-based birth defects surveillance data from selected states, 2000–2004Birth Defects Res A Clin Mol Teratol20077987494218064710ParkerSEMaiCTCanfieldMAUpdated national birth prevalence estimates for selected birth defects in the United States, 2004–2006Birth Defects Res A Clin Mol Teratol2010881008101620878909PazolKZaneSParkerWYAbortion surveillance - United States, 2007MMWR Surveill Summ201160142RasmussenSAWongLYYangQPopulation-based analyses of mortality in trisomy 13 and trisomy 18Pediatrics2003111Pt 177778412671111ReddyUMKoCWWillingerMMaternal age and the risk of stillbirth throughout pregnancy in the United StatesAm J Obstet Gynecol200619576477016949411ShermanSLAllenEGBeanLHFreemanSBEpidemiology of Down syndromeMent Retard Dev Disabil Res Rev20071322122717910090ShinMBesserLMKucikJECongenital anomaly multistate prevalence and survival collaborative. Prevalence of Down syndrome among children and adolescents in 10 regions of the United StatesPediatrics20091241565157119948627ShinMKucikJECorreaACauses of death and case fatality rates among infants with down syndrome in metropolitan AtlantaBirth Defects Res A Clin Mol Teratol20077977578017990337TaoZWangYDicesareDKElectronic clinical laboratory reports as a source for ascertaining and confirming chromosomal anomalies reported to the New York State Congenital Malformations RegistryJ Public Health Manag Pract201319E17E2423358302VendolaCCanfieldMDaigerSPSurvival of Texas infants born with trisomies 21, 18, and 13Am J Med Genet A2010152A36036620082470ZhuJLHasleHCorreaASurvival among people with Down syndrome: a nationwide population-based study in DenmarkGenet Med201315646922878506

Pooled prevalence (per 10,000 live births) of Down syndrome by maternal age (years).

Pooled prevalence (per 10,000 live births) of trisomy 18 by maternal age (years).

Pooled prevalence (per 10,000 live births) of trisomy 13 by maternal age (years).

ICD-9-CM and CDC/BPA Codes for 47 Birth Defects Reported in the NBDPN Annual Report

Birth defectsICD-9-CM codesCDC/BPA codes
Central nervous system
    Anencephalus740.0 – 740.1740.00 – 740.10
    Spina bifida without anencephalus741.0 – 741.9741.00 – 741.99
w/o 740.0 – 740.10w/o 740.0 – 740.10
    Hydrocephalus without spina bifida742.3 w/o 741.0, 741.9742.30 – 742.39
w/o 741.00 – 741.99
    Encephalocele742.0742.00 – 742.09
    Microcephalus742.1742.10
Eye
    Anophthalmia/microphthalmia743.0, 743.1743.00 – 743.10
    Congenital cataract743.30 – 743.34743.32
    Aniridia743.45743.42
Ear
    Anotia/microtia744.01, 744.23744.01, 744.21
Cardiovascular
    Common truncus745.0745.00
    Transposition of great arteries745.10, .11, .12, .19 (For CCHDscreening*, 745.10 only)745.10–745.19 (exclude 745.13, 745.15,745.18) (For CCHD screening*, only745.10, 745.11, 745.14, 745.19)
    Tetralogy of Fallot745.2745.20 – 745.21, 747.31
    Ventricular septal defect745.4745.40 – 745.49(exclude 745.487, 745.498)
    Atrial septal defect745.5745.51 – 745.59
    Atrioventricular septal defect (endocardial cushion defect)745.60, .61, .69745.60 – 745.69, 745.487
    Pulmonary valve atresia and stenosis746.01, 746.02746.00 – 746.01
(For CCHD screening*, 746.01 only)(For CCHD screening*, 746.00 only)
    Tricuspid valve atresia and stenosis746.1746.10 (exclude 746.105) (For CCHDscreening*, 746.10 exclude 746.105 and746.106)
    Ebstein anomaly746.2746.20
    Aortic valve stenosis746.3746.30
    Hypoplastic left heart syndrome746.7746.70
    Patent ductus arteriosus747.0747.00
    Coarctation of aorta747.10747.10 – 747.19
    Total anomalous pulmonary
    venous return (TAPVR)747.41747.42
Orofacial
    Cleft palate without cleft lip749.0749.00 – 749.09
    Cleft lip with and without cleft palate749.1, 749.2749.10 – 749.29
    Choanal atresia748.0748.0
Gastrointestinal
    Esophageal atresia/tracheoesophageal fistula750.3750.30 – 750.35
    Rectal and large intestinal atresia/stenosis751.2751.20 – 751.24
    Pyloric stenosis750.5750.51
Hirschsprung disease (congenital megacolon)751.3751.30 – 751.34
    Biliary atresia751.61751.65
Genitourinary
    Renal agenesis/hypoplasia753.0753.00 – 753.01
    Bladder exstrophy753.5753.50
    Obstructive genitourinary defect753.2, 753.6753.20–29 and 753.60–69
    Hypospadias752.61752.60 – 752.62 (exclude 752.61 and 752.621)
    Epispadias752.62752.61
Musculoskeletal
    Reduction deformity, upper limbs755.20 – 755.29755.20 – 755.29
    Reduction deformity, lower limbs755.30 – 755.39755.30 – 755.39
    Gastroschisis756.79756.71
    Omphalocele756.79756.70
    Congenital hip dislocation754.30, .31, .35754.30
    Diaphragmatic hernia756.6756.61
Chromosomal
    Trisomy 13758.1758.10 – 758.19
    Down syndrome (trisomy 21)758.0758.00 – 758.09
    Trisomy 18758.2758.20 – 758.29
Other
    Fetus or newborn affected by maternal alcohol use760.71760.71
    Amniotic bandsNo code658.80

ICD-9-CM, International Classification of Diseases, 9th Revision, Clinical Modification; CDC/BPA, Centers for Disease Control and Prevention/British Pediatric Association Classification of Diseases; NBDPN, National Birth Defects Protection Network; w/o, without; CCHD, critical congenital heart defect.

The primary targets for critical congenital heart defect (CCHD) screening include hypoplastic left heart syndrome, pulmonary atresia with intact septum, tetralogy of Fallot, total anomalous pulmonary venous return, dextro-Transposition of great arteries (d-TGA), tricuspid atresia, and truncus arteriosus.

a Down Syndrome Counts and Prevalence by Maternal Age, 2006 to 2010 (Prevalence per 10,000 Live Births)
Maternal age (years)

State<2020–2425–2930–3435–39401Total*Notes
Live births
Alaskap71511162117871
12.99.26.714.639.1121.315.6
Department of Defensep201651561671601128046
6.58.68.916.737.7125.414.1
Floridap842222072694003011483
7.27.66.610.830.091.513.0
Indianap3259881191199851510
6.94.96.813.531.9106.911.9
Louisianaa11233035423717812
6.15.37.814.939.7157.313.1
Minnesotaa692239594818316
4.84.86.511.834.3110.515.3
Nevadap13243542624625823
4.46.06.210.129.089.013.3
New Jerseyp17546814019615467222
5.05.74.88.520.766.012.2
New Yorkp521511973124143581484
6.26.16.19.721.970.612.2
Vermontp23761293930
8.94.27.97.428.391.612.3
Washingtonp......46131
......13.0
West Virginiap211811867032
1.53.52.76.110.952.26.9
Live births and stillbirths
Arizonaa3568891221371215723
6.15.46.612.128.091.311.8
Delawarea06413910435
0.06.73.916.122.3112.212.0
Illinoisp6111815521731024911219
7.26.26.49.928.199.712.9
Kansasp8323834403620311
3.95.86.28.223.197.610.2
Kentuckyp193850568447303
5.24.56.110.637.990.910.7
Marylandp244645751169340114
7.55.84.47.620.864.810.5
Massachusettsa16425510514612248613
7.06.95.99.020.971.712.8
Mainep41418132398115
7.58.29.18.530.456.012.2
Michiganp4599147176205127821
7.56.88.312.431.487.913.5
Mississippip83536534616194
2.24.85.915.833.556.48.8
Missourip3472891081376850817
9.37.89.216.848.8117.315.7
North Dakotap24712874119
6.13.54.512.521.391.49.2
Nebraskap5254653504822720
4.67.610.617.339.5182.617.0
Ohiop151939233930165
9.24.88.97.326.9102.411.1
Tennesseep46971099714493586
8.67.89.212.240.4128.214.0
Virginiap27837613914712573229
6.36.85.210.621.174.013.8
Wisconsinp17415811511485430
5.95.35.514.031.8113.412.8
All Pregnancy Outcomes
Arkansasa1739464552392382
5.95.98.113.839.8150.811.9
Coloradop3158981302211537154
9.77.410.215.349.1150.420.6
Georgia/CDCa265071110163965357
12.48.910.215.740.294.320.0
Iowaa1932575580552998
11.06.48.612.444.9150.615.0
North Carolinaa5510611815220513277118
7.66.26.810.930.393.912.1
New Hampshirea21413181477021
4.810.16.79.414.432.410.2
Oklahomaa21596048766733224
5.86.97.610.640.7174.012.3
Puerto Ricoa29564659785632425
7.17.77.816.250.1161.614.2
Rhode Islandp28121324168426
3.86.57.98.929.586.014.6
South Carolinaa16253326543518927
6.94.76.47.232.9101.110.3
Texasa173302338436570390220928
7.96.87.713.436.7119.313.7
Utaha145573859579401
8.07.87.713.943.7188.214.8
b Down Syndrome Counts and Prevalence by Maternal Race/Ethnicity, 2006 to 2010 (Prevalence per 10,000 Live Births)
Maternal race/ethnicity

StateWhitenon-HispanicBlacknon-HispanicHispanicAsian andPacific IslandersNon-HispanicAmerican Indian/Alaska NativeNon-HispanicTotal*Notes
Live births
Alaskap44...28871
13.0...20.015.6
Department of Defensep550105903598046
14.612.914.213.68.614.1
Floridap6673144234541483
13.212.712.914.617.913.0
Indianap403375315151510
12.66.613.715.512.811.9
Louisianaa1065498<517812
15.09.912.931.7.13.1
Minnesotaa89452515318316
14.120.317.99.919.915.3
Nevadap842412517125823
10.313.716.711.14.413.3
New Jerseyp30710220038367222
12.012.314.07.048.112.2
New Yorkp7352633579211484
12.413.312.97.34.312.2
Vermontp3611003930
12.026.726.20.00.012.3
Washingtonp.....46131
.....13.0
West Virginiap4830007032
5.18.20.00.00.06.9
Live births and stillbirths
Arizonaa2391925316355713
11.79.812.210.211.511.8
Delawarea287440435
14.67.37.425.40.012.0
Illinoisp75314916539111219
16.49.87.98.48.112.9
Kansasp1306365020311
9.24.311.08.80.010.2
Kentuckyp248281741303
10.510.811.810.229.710.7
Marylandp1991124526140114
11.38.88.810.012.310.5
Massachusettsa315537528348613
12.315.913.99.738.412.8
Mainep7113018115
11.55.829.30.017.812.2
Michiganp57813639313821
13.712.48.814.610.513.6
Mississippip10077911194
9.17.812.04.36.58.8
Missourip395484018450817
16.19.822.223.027.015.7
North Dakotap3510204119
9.813.90.033.20.09.2
Nebraskap16310425122720
16.511.520.616.04.817.0
Ohiop12627831165
11.110.911.69.646.311.1
Tennesseep39311664100586
14.013.316.512.20.014.0
Virginiap32211411343073229
10.69.916.211.70.013.8
Wisconsinp3072665275430
12.37.419.319.19.212.8
All pregnancy outcomes
Arkansasa1762633302382
13.16.715.56.90.011.9
Coloradop295301691717154
14.319.415.714.64.020.6
Georgia/CDCa1731651272525357
23.016.120.215.478.120.0
Iowaa2378381002998
14.19.623.320.60.015.0
North Carolinaa434143143261477118
12.29.513.813.116.012.1
New Hampshirea4911317021
7.98.812.812.464.510.2
Oklahomaa203246763233224
11.89.818.99.910.612.3
Puerto Ricoa003240032425
..14.2..14.2
Rhode Islandp48516208426
13.410.113.47.90.014.6
South Carolinaa10952214018927
10.68.712.412.80.010.3
Texasa7031821232673220928
12.79.915.311.210.313.7
Utaha285584143401
13.719.419.315.58.814.8

Total includes unknown maternal age.

Active case-finding

Passive case-finding (with or without case confirmation).

Total includes unknown race.

active case-finding

passive-case finding (with or without case confirmation).

a Trisomy 18 Counts and Prevalence by Maternal Age, 2006 to 2010 (Prevalence per 10,000 Live Births)
Maternal Age (Years)

State<2020–2425–2930–3435–39401Total*Notes
Live births
Alaskap<6<6<6<6<6<6101
......1.8
Department of Defensep51427141816996
1.60.71.51.44.217.91.7
Floridap124334394049217
1.01.51.11.63.014.91.9
Indianap3512118135310
0.60.40.91.22.114.21.2
Louisianaa<5<57<55<52412
..1.8.4.7.1.8
Minnesotaa3133682416
2.40.50.90.93.518.42.0
Nevadap4354293223
1.40.70.91.00.917.41.7
New Jerseyp1961117135722
0.31.00.40.71.85.61.0
New Yorkp51922194239146
0.60.80.70.62.27.71.2
Vermontp020001330
0.02.80.00.00.010.20.9
West Virginiap1131031132
0.80.31.00.60.026.11.1
Live births and stillbirths
Arizonaa31523171218893
0.51.21.71.72.413.61.8
Delawarea112123105
2.81.12.01.25.033.72.8
Illinoisp723272751381929
0.81.21.11.24.615.22.2
Kansasp0445572611
0.00.70.71.22.919.01.3
Kentuckyp153414645
0.30.60.40.86.311.61.6
Marylandp4101420233610814
1.21.31.42.04.125.12.8
Massachusettsa41171010206213
1.71.80.70.91.411.71.6
Michiganp62128252028132
1.01.41.61.83.119.42.2
Mississippip17787232
0.31.01.22.45.17.01.5
Missourip517141318168317
1.41.91.42.06.427.62.6
North Dakotap031010519
0.02.60.60.02.70.01.1
Nebraskap27117884320
1.82.12.52.36.330.43.2
Ohiop222161023
1.20.50.50.34.134.11.5
Tennesseep918174181076
1.71.51.40.55.013.81.8
Virginiap4772119178929
0.90.60.51.62.710.11.7
Wisconsinp661513101666
2.10.81.41.62.821.32.0
All pregnancy outcomes
Arkansasa66991114552
2.10.91.62.88.454.12.7
Coloradop617193144391644
1.92.22.03.79.838.34.7
Georgia/CDCa213111436531317
1.02.31.62.08.952.14.9
Iowaa7413161712698
4.10.82.03.69.532.93.5
North Carolinaa16362226433618118
2.22.11.31.96.425.62.8
New Hampshirea0122151121
0.00.71.01.01.023.11.6
Oklahomaa6131010985624
1.71.51.32.24.820.82.1
Puerto Ricoa1311161022118325
3.21.52.72.714.131.73.6
Rhode Islandp1223541926
1.91.61.32.06.221.53.3
South Carolinaa65928114127
2.60.91.70.64.931.82.2
Texasa327366701139444828
1.51.61.52.27.328.82.8
Utaha4122219222099
2.31.72.33.110.147.63.7
b Trisomy 18 Counts and Prevalence by Maternal Race/Ethnicity, 2006–2010 (Prevalence per 10,000 Live Births)
Maternal race/ethnicity

StateWhitenon-HispanicBlacknon-HispanicHispanicAsian andPacific IslandersAmerican Indian/Alaska NativeTotal*Notes
Live births
Alaskap<6...<6101
.....1.8
Department of Defensep7091450996
1.91.12.21.90.01.7
Floridap80675960217
1.62.71.81.90.01.9
Indianap3795105310
1.21.61.31.00.01.2
Louisianaa155<5<502412
2.10.9..0.01.8
Minnesotaa1181402416
1.73.60.72.60.02.0
Nevadap9119203223
1.10.62.51.30.01.7
New Jerseyp201517505722
0.81.81.20.90.01.0
New Yorkp543841100146
0.91.91.50.80.01.2
Vermontp30000330
1.00.00.00.00.00.9
West Virginiap910001132
1.02.70.00.00.01.1
Live births and stillbirths
Arizonaa36335510893
1.81.51.73.23.31.8
Delawarea43210105
2.13.13.76.40.02.8
Illinoisp10935361101929
2.42.31.72.40.02.2
Kansasp1419002611
1.00.72.70.00.01.3
Kentuckyp40130045
1.70.42.10.00.01.6
Marylandp5921156010814
3.41.62.92.30.02.8
Massachusettsa291115406213
1.13.32.81.40.01.6
Michiganp8633530132
2.03.01.11.40.02.2
Mississippip161320032
1.51.32.70.00.01.5
Missourip61127208317
2.52.43.92.60.02.6
North Dakotap40010519
1.10.00.016.60.01.1
Nebraskap3155014320
3.15.72.50.04.83.2
Ohiop15800023
1.33.20.00.00.01.5
Tennesseep5114101076
1.81.62.61.20.01.8
Virginiap43177708929
1.41.51.01.90.01.7
Wisconsinp50762066
2.02.01.81.40.02.0
All pregnancy outcomes
Arkansasa3811600552
2.82.82.80.00.02.7
Coloradop35333501644
1.71.93.14.30.04.7
Georgia/CDCa4733171011317
6.33.22.76.239.14.9
Iowaa536810698
3.27.24.92.10.03.5
North Carolinaa99382510218118
2.82.52.45.02.32.8
New Hampshirea600001121
1.00.00.00.00.01.6
Oklahomaa3792175624
2.13.70.61.62.32.1
Puerto Ricoa0083008325
..3.6..3.6
Rhode Islandp1114001926
3.12.03.40.00.03.3
South Carolinaa22136004127
2.12.23.50.00.02.2
Texasa1474922322044828
2.72.72.83.70.02.8
Utaha755151199
3.619.43.41.12.93.7

Total includes unknown maternal age.

active case-finding

passive case-finding (with or without case confirmation).

Total includes unknown race.

active case-finding

passive case-finding (with or without case confirmation).

a Trisomy 13 Counts and Prevalence by Maternal Age, 2006 to 2010 (Prevalence per 10,000 Live Births)
Maternal age (years)

State<2020–2425–2930–3435–3940+Total*Notes
Live births
Alaskap<6<6<6<6<6<671
......1.3
Department of Defensep419171664686
1.31.01.01.61.44.51.2
Floridap52021202113100
0.40.70.70.81.64.00.9
Indianap0548512310
0.00.40.30.91.31.10.5
Louisianaa<5<5<500<5912
...0.00.0.0.7
Minnesotaa0411411116
0.02.10.30.32.32.30.9
Nevadap1403111223
0.31.00.00.70.51.90.6
New Jerseyp1225431722
0.30.20.10.30.41.30.3
New Yorkp4212216131490
0.50.80.70.50.72.80.7
Vermontp000100130
0.00.00.01.20.00.00.3
West Virginiap011010632
0.00.30.30.01.40.00.6
Live births and stillbirths
Arizonaa513118106533
0.91.00.80.82.04.51.1
Delawarea00001015
0.00.00.00.02.50.00.3
Illinoisp71819262571069
0.81.00.81.22.32.81.2
Kansasp0231301311
0.00.40.50.21.70.00.7
Kentuckyp311612125
0.81.30.70.20.91.90.9
Marylandp325119104014
0.90.30.51.11.67.01.0
Massachusettsa2452852613
0.90.70.50.21.12.90.7
Michiganp41016145557
0.70.70.91.00.83.50.9
Mississippip30481016
0.80.00.72.40.70.00.7
Missourip41097844217
1.11.10.91.12.96.91.3
Nebraskap1495212220
0.91.22.11.61.63.81.6
Ohiop03331212
0.00.80.70.90.76.80.8
Tennesseep391156135
0.60.70.90.61.71.40.8
Virginiap4871011115429
0.90.70.50.81.66.51.0
Wisconsinp22867227
0.70.30.80.72.02.70.8
All pregnancy outcomes
Arkansasa256621222
0.70.81.11.81.53.91.1
Coloradop28829307894
0.61.00.83.46.76.92.6
Georgia/CDCa17713116457
0.51.21.01.92.75.91.7
Iowaa0514545338
0.01.02.11.12.213.71.7
North Carolinaa81714171377618
1.11.00.81.21.95.01.2
New Hampshirea000112521
0.00.00.00.51.09.30.7
Oklahomaa19113523124
0.31.01.40.72.75.21.2
Puerto Ricoa3646833025
0.70.80.71.65.18.71.3
Rhode Islandp0211501026
0.01.60.70.76.20.01.7
South Carolinaa3364222027
1.30.61.21.11.25.81.1
Texasa15464035342119128
0.71.00.91.12.26.41.2
Utaha212101413556
1.11.71.12.36.011.92.1
b Trisomy 13 Counts and Prevalence by Maternal Race/Ethnicity, 2006 to 2010 (Prevalence per 10,000 Live Births)
Maternal race/ethnicity

StateWhitenon-HispanicBlacknon-HispanicHispanicAsian andPacific IslandersNon-HispanicAmerican Indian/Alaska NativeNon-HispanicTotal*Notes
Live births
Alaskap<6...<671
.....1.3
Department of Defensep4019710686
1.12.31.10.40.01.2
Floridap42322300100
0.81.30.70.00.00.9
Indianap1445002310
0.40.71.30.00.00.5
Louisianaa<5<5<500912
...0.00.00.7
Minnesotaa254001116
0.32.32.90.00.00.9
Nevadap515001223
0.60.60.70.00.00.6
New Jerseyp546101722
0.20.50.40.20.00.3
New Yorkp4218228090
0.70.90.80.60.00.7
Vermontp10000130
0.30.00.00.00.00.3
West Virginiap30000632
0.30.00.00.00.00.6
Live births and stillbirths
Arizonaa1642472533
0.82.11.24.50.71.1
Delawarea1000015
0.50.00.00.00.00.3
Illinoisp701912401069
1.51.30.60.90.01.2
Kansasp402201311
0.30.00.63.50.00.7
Kentuckyp18230025
0.80.82.10.00.00.9
Marylandp21133204014
1.21.00.60.80.01.0
Massachusettsa1835002613
0.70.90.90.00.00.7
Michiganp371232057
0.91.10.70.90.00.9
Mississippip6901016
0.50.90.04.30.00.7
Missourip2686204217
1.11.63.32.60.01.3
Nebraskap1425002220
1.42.32.50.00.01.6
Ohiop10200012
0.90.80.00.00.00.8
Tennesseep171231035
0.61.40.81.20.00.8
Virginiap17711105429
0.60.61.60.30.01.0
Wisconsinp20331027
0.80.90.90.70.00.8
All pregnancy outcomes
Arkansasa164200222
1.21.00.90.00.01.1
Coloradop2211411894
1.10.61.30.94.02.6
Georgia/CDCa1324300457
1.72.30.50.00.01.7
Iowaa241410338
1.41.22.52.10.01.7
North Carolinaa342314217618
1.01.51.31.01.11.2
New Hampshirea31000521
0.58.80.00.00.00.7
Oklahomaa2042053124
1.21.60.60.01.71.2
Puerto Ricoa0030003025
..1.3..1.3
Rhode Islandp223101026
0.64.02.53.90.01.7
South Carolinaa8101002027
0.81.70.60.00.01.1
Texasa63239410019128
1.11.31.21.70.01.2
Utaha372161056
1.87.83.71.10.02.1

Total includes unknown maternal age.

active case-finding

passive case-finding (with or without case confirmation).

Total includes unknown race.

active case-finding

passive case-finding (with or without case confirmation).

Change in Prevalencea of Down Syndrome, Trisomy 18, and Trisomy 13 by Pregnancy Outcomes

State categoryby pregnancyoutcomesDown syndrome (Trisomy 21)
Trisomy 18
Trisomy 13
2000–2004b2006–2010PR(95% CI)2000–2004b2006–2010PR (95% CI)2000–2004b2006–2010PR (95% CI)
Live births onlyc(n56)12.1712.331.01 (0.97,1.06)1.231.411.15 (1.01,1.32)0.870.700.80 (0.67,0.96)
Live births andstillbirthsd(n59)11.9612.841.07 (1.03,1.12)1.651.931.17 (1.05,1.30)0.850.971.13 (0.97,1.32)
All pregnancyoutcomese(n59)13.3614.441.08 (1.04,1.12)2.513.191.27 (1.17,1.38)1.251.421.14 (1.01,1.28)

PR, prevalence ratio; CI, confidence intervals.

Prevalence per 10,000 live births.

Only states that reported for both periods were included. See footnotes 3–5 for the specific states. Source: NBDPN. Population-based Birth Defects Surveillance Data from Selected States, 2000–2004. Birth Defects Res A Clin Mol Teratol. 2007 Dec;79(12):874–942.

States included Alaska, Florida, Indiana, New Jersey, New York, and West Virginia.

States included Arizona, Delaware, Illinois, Massachusetts, Michigan, Mississippi, Tennessee, Virginia, and Wisconsin.

States included Arkansas, Colorado, CDC/Georgia, Iowa, North Carolina, Oklahoma, Puerto Rico, Texas, and Utah.