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. Author manuscript; available in PMC: 2015 Nov 6.
Published in final edited form as: Birth Defects Res A Clin Mol Teratol. 2013 Nov;97(11):709–725. doi: 10.1002/bdra.23198

Selected Birth Defects Data from Population-Based Birth Defects Surveillance Programs in the United States, 2006 to 2010: Featuring Trisomy Conditions

Cara T Mai 1,*, James E Kucik 1, Jennifer Isenburg 2, Marcia L Feldkamp 3, Lisa K Marengo 4, Erin M Bugenske 2, Phoebe G Thorpe 1, Jodi M Jackson 1, Adolfo Correa 5, Russel Rickard 6, CJ Alverson 1, Russell S Kirby 7; for the National Birth Defects Prevention Network
PMCID: PMC4636004  NIHMSID: NIHMS702834  PMID: 24265125

INTRODUCTION

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 Defects

Data 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]).

Table 1.

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

Birth defects ICD-9-CM codes CDC/BPA codes
Central nervous system
    Anencephalus 740.0 – 740.1 740.00 – 740.10
    Spina bifida without anencephalus 741.0 – 741.9 741.00 – 741.99
w/o 740.0 – 740.10 w/o 740.0 – 740.10
    Hydrocephalus without spina bifida 742.3 w/o 741.0, 741.9 742.30 – 742.39
w/o 741.00 – 741.99
    Encephalocele 742.0 742.00 – 742.09
    Microcephalus 742.1 742.10
Eye
    Anophthalmia/microphthalmia 743.0, 743.1 743.00 – 743.10
    Congenital cataract 743.30 – 743.34 743.32
    Aniridia 743.45 743.42
Ear
    Anotia/microtia 744.01, 744.23 744.01, 744.21
Cardiovascular
    Common truncus 745.0 745.00
    Transposition of great arteries 745.10, .11, .12, .19 (For CCHD
screening*, 745.10 only)		 745.10–745.19 (exclude 745.13, 745.15,
745.18) (For CCHD screening*, only
745.10, 745.11, 745.14, 745.19)
    Tetralogy of Fallot 745.2 745.20 – 745.21, 747.31
    Ventricular septal defect 745.4 745.40 – 745.49
(exclude 745.487, 745.498)
    Atrial septal defect 745.5 745.51 – 745.59
    Atrioventricular septal defect (endocardial cushion defect) 745.60, .61, .69 745.60 – 745.69, 745.487
    Pulmonary valve atresia and stenosis 746.01, 746.02 746.00 – 746.01
(For CCHD screening*, 746.01 only) (For CCHD screening*, 746.00 only)
    Tricuspid valve atresia and stenosis 746.1 746.10 (exclude 746.105) (For CCHD
screening*, 746.10 exclude 746.105 and
746.106)
    Ebstein anomaly 746.2 746.20
    Aortic valve stenosis 746.3 746.30
    Hypoplastic left heart syndrome 746.7 746.70
    Patent ductus arteriosus 747.0 747.00
    Coarctation of aorta 747.10 747.10 – 747.19
    Total anomalous pulmonary
    venous return (TAPVR) 747.41 747.42
Orofacial
    Cleft palate without cleft lip 749.0 749.00 – 749.09
    Cleft lip with and without cleft palate 749.1, 749.2 749.10 – 749.29
    Choanal atresia 748.0 748.0
Gastrointestinal
    Esophageal atresia/tracheoesophageal fistula 750.3 750.30 – 750.35
    Rectal and large intestinal atresia/stenosis 751.2 751.20 – 751.24
    Pyloric stenosis 750.5 750.51
Hirschsprung disease (congenital megacolon) 751.3 751.30 – 751.34
    Biliary atresia 751.61 751.65
Genitourinary
    Renal agenesis/hypoplasia 753.0 753.00 – 753.01
    Bladder exstrophy 753.5 753.50
    Obstructive genitourinary defect 753.2, 753.6 753.20–29 and 753.60–69
    Hypospadias 752.61 752.60 – 752.62 (exclude 752.61 and 752.621)
    Epispadias 752.62 752.61
Musculoskeletal
    Reduction deformity, upper limbs 755.20 – 755.29 755.20 – 755.29
    Reduction deformity, lower limbs 755.30 – 755.39 755.30 – 755.39
    Gastroschisis 756.79 756.71
    Omphalocele 756.79 756.70
    Congenital hip dislocation 754.30, .31, .35 754.30
    Diaphragmatic hernia 756.6 756.61
Chromosomal
    Trisomy 13 758.1 758.10 – 758.19
    Down syndrome (trisomy 21) 758.0 758.00 – 758.09
    Trisomy 18 758.2 758.20 – 758.29
Other
    Fetus or newborn affected by maternal alcohol use 760.71 760.71
    Amniotic bands No code 658.80
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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.

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 1–3. The states that contributed to the pooled prevalence are listed in Tables 2 to 4.

Table 2.

a Down Syndrome Counts and Prevalence by Maternal Age, 2006 to 2010 (Prevalence per 10,000 Live Births)
Maternal age (years)
State <20 20–24 25–29 30–34 35–39 401 Total* Notes
Live births
Alaskap 7 15 11 16 21 17 87 1
12.9 9.2 6.7 14.6 39.1 121.3 15.6
Department of Defensep 20 165 156 167 160 112 804 6
6.5 8.6 8.9 16.7 37.7 125.4 14.1
Floridap 84 222 207 269 400 301 1483
7.2 7.6 6.6 10.8 30.0 91.5 13.0
Indianap 32 59 88 119 119 98 515 10
6.9 4.9 6.8 13.5 31.9 106.9 11.9
Louisianaa 11 23 30 35 42 37 178 12
6.1 5.3 7.8 14.9 39.7 157.3 13.1
Minnesotaa 6 9 22 39 59 48 183 16
4.8 4.8 6.5 11.8 34.3 110.5 15.3
Nevadap 13 24 35 42 62 46 258 23
4.4 6.0 6.2 10.1 29.0 89.0 13.3
New Jerseyp 17 54 68 140 196 154 672 22
5.0 5.7 4.8 8.5 20.7 66.0 12.2
New Yorkp 52 151 197 312 414 358 1484
6.2 6.1 6.1 9.7 21.9 70.6 12.2
Vermontp 2 3 7 6 12 9 39 30
8.9 4.2 7.9 7.4 28.3 91.6 12.3
Washingtonp . . . . . . 461 31
. . . . . . 13.0
West Virginiap 2 11 8 11 8 6 70 32
1.5 3.5 2.7 6.1 10.9 52.2 6.9
Live births and stillbirths
Arizonaa 35 68 89 122 137 121 572 3
6.1 5.4 6.6 12.1 28.0 91.3 11.8
Delawarea 0 6 4 13 9 10 43 5
0.0 6.7 3.9 16.1 22.3 112.2 12.0
Illinoisp 61 118 155 217 310 249 1121 9
7.2 6.2 6.4 9.9 28.1 99.7 12.9
Kansasp 8 32 38 34 40 36 203 11
3.9 5.8 6.2 8.2 23.1 97.6 10.2
Kentuckyp 19 38 50 56 84 47 303
5.2 4.5 6.1 10.6 37.9 90.9 10.7
Marylandp 24 46 45 75 116 93 401 14
7.5 5.8 4.4 7.6 20.8 64.8 10.5
Massachusettsa 16 42 55 105 146 122 486 13
7.0 6.9 5.9 9.0 20.9 71.7 12.8
Mainep 4 14 18 13 23 9 81 15
7.5 8.2 9.1 8.5 30.4 56.0 12.2
Michiganp 45 99 147 176 205 127 821
7.5 6.8 8.3 12.4 31.4 87.9 13.5
Mississippip 8 35 36 53 46 16 194
2.2 4.8 5.9 15.8 33.5 56.4 8.8
Missourip 34 72 89 108 137 68 508 17
9.3 7.8 9.2 16.8 48.8 117.3 15.7
North Dakotap 2 4 7 12 8 7 41 19
6.1 3.5 4.5 12.5 21.3 91.4 9.2
Nebraskap 5 25 46 53 50 48 227 20
4.6 7.6 10.6 17.3 39.5 182.6 17.0
Ohiop 15 19 39 23 39 30 165
9.2 4.8 8.9 7.3 26.9 102.4 11.1
Tennesseep 46 97 109 97 144 93 586
8.6 7.8 9.2 12.2 40.4 128.2 14.0
Virginiap 27 83 76 139 147 125 732 29
6.3 6.8 5.2 10.6 21.1 74.0 13.8
Wisconsinp 17 41 58 115 114 85 430
5.9 5.3 5.5 14.0 31.8 113.4 12.8
All Pregnancy Outcomes
Arkansasa 17 39 46 45 52 39 238 2
5.9 5.9 8.1 13.8 39.8 150.8 11.9
Coloradop 31 58 98 130 221 153 715 4
9.7 7.4 10.2 15.3 49.1 150.4 20.6
Georgia/CDCa 26 50 71 110 163 96 535 7
12.4 8.9 10.2 15.7 40.2 94.3 20.0
Iowaa 19 32 57 55 80 55 299 8
11.0 6.4 8.6 12.4 44.9 150.6 15.0
North Carolinaa 55 106 118 152 205 132 771 18
7.6 6.2 6.8 10.9 30.3 93.9 12.1
New Hampshirea 2 14 13 18 14 7 70 21
4.8 10.1 6.7 9.4 14.4 32.4 10.2
Oklahomaa 21 59 60 48 76 67 332 24
5.8 6.9 7.6 10.6 40.7 174.0 12.3
Puerto Ricoa 29 56 46 59 78 56 324 25
7.1 7.7 7.8 16.2 50.1 161.6 14.2
Rhode Islandp 2 8 12 13 24 16 84 26
3.8 6.5 7.9 8.9 29.5 86.0 14.6
South Carolinaa 16 25 33 26 54 35 189 27
6.9 4.7 6.4 7.2 32.9 101.1 10.3
Texasa 173 302 338 436 570 390 2209 28
7.9 6.8 7.7 13.4 36.7 119.3 13.7
Utaha 14 55 73 85 95 79 401
8.0 7.8 7.7 13.9 43.7 188.2 14.8
b Down Syndrome Counts and Prevalence by Maternal Race/Ethnicity, 2006 to 2010 (Prevalence per 10,000 Live Births)
Maternal race/ethnicity
State White
non-Hispanic		 Black
non-Hispanic		 Hispanic Asian and
Pacific Islanders
Non-Hispanic		 American Indian/
Alaska Native
Non-Hispanic		 Total* Notes
Live births
Alaskap 44 . . . 28 87 1
13.0 . . . 20.0 15.6
Department of Defensep 550 105 90 35 9 804 6
14.6 12.9 14.2 13.6 8.6 14.1
Floridap 667 314 423 45 4 1483
13.2 12.7 12.9 14.6 17.9 13.0
Indianap 403 37 53 15 1 515 10
12.6 6.6 13.7 15.5 12.8 11.9
Louisianaa 106 54 9 8 <5 178 12
15.0 9.9 12.9 31.7 . 13.1
Minnesotaa 89 45 25 15 3 183 16
14.1 20.3 17.9 9.9 19.9 15.3
Nevadap 84 24 125 17 1 258 23
10.3 13.7 16.7 11.1 4.4 13.3
New Jerseyp 307 102 200 38 3 672 22
12.0 12.3 14.0 7.0 48.1 12.2
New Yorkp 735 263 357 92 1 1484
12.4 13.3 12.9 7.3 4.3 12.2
Vermontp 36 1 1 0 0 39 30
12.0 26.7 26.2 0.0 0.0 12.3
Washingtonp . . . . . 461 31
. . . . . 13.0
West Virginiap 48 3 0 0 0 70 32
5.1 8.2 0.0 0.0 0.0 6.9
Live births and stillbirths
Arizonaa 239 19 253 16 35 571 3
11.7 9.8 12.2 10.2 11.5 11.8
Delawarea 28 7 4 4 0 43 5
14.6 7.3 7.4 25.4 0.0 12.0
Illinoisp 753 149 165 39 1 1121 9
16.4 9.8 7.9 8.4 8.1 12.9
Kansasp 130 6 36 5 0 203 11
9.2 4.3 11.0 8.8 0.0 10.2
Kentuckyp 248 28 17 4 1 303
10.5 10.8 11.8 10.2 29.7 10.7
Marylandp 199 112 45 26 1 401 14
11.3 8.8 8.8 10.0 12.3 10.5
Massachusettsa 315 53 75 28 3 486 13
12.3 15.9 13.9 9.7 38.4 12.8
Mainep 71 1 3 0 1 81 15
11.5 5.8 29.3 0.0 17.8 12.2
Michiganp 578 136 39 31 3 821
13.7 12.4 8.8 14.6 10.5 13.6
Mississippip 100 77 9 1 1 194
9.1 7.8 12.0 4.3 6.5 8.8
Missourip 395 48 40 18 4 508 17
16.1 9.8 22.2 23.0 27.0 15.7
North Dakotap 35 1 0 2 0 41 19
9.8 13.9 0.0 33.2 0.0 9.2
Nebraskap 163 10 42 5 1 227 20
16.5 11.5 20.6 16.0 4.8 17.0
Ohiop 126 27 8 3 1 165
11.1 10.9 11.6 9.6 46.3 11.1
Tennesseep 393 116 64 10 0 586
14.0 13.3 16.5 12.2 0.0 14.0
Virginiap 322 114 113 43 0 732 29
10.6 9.9 16.2 11.7 0.0 13.8
Wisconsinp 307 26 65 27 5 430
12.3 7.4 19.3 19.1 9.2 12.8
All pregnancy outcomes
Arkansasa 176 26 33 3 0 238 2
13.1 6.7 15.5 6.9 0.0 11.9
Coloradop 295 30 169 17 1 715 4
14.3 19.4 15.7 14.6 4.0 20.6
Georgia/CDCa 173 165 127 25 2 535 7
23.0 16.1 20.2 15.4 78.1 20.0
Iowaa 237 8 38 10 0 299 8
14.1 9.6 23.3 20.6 0.0 15.0
North Carolinaa 434 143 143 26 14 771 18
12.2 9.5 13.8 13.1 16.0 12.1
New Hampshirea 49 1 1 3 1 70 21
7.9 8.8 12.8 12.4 64.5 10.2
Oklahomaa 203 24 67 6 32 332 24
11.8 9.8 18.9 9.9 10.6 12.3
Puerto Ricoa 0 0 324 0 0 324 25
. . 14.2 . . 14.2
Rhode Islandp 48 5 16 2 0 84 26
13.4 10.1 13.4 7.9 0.0 14.6
South Carolinaa 109 52 21 4 0 189 27
10.6 8.7 12.4 12.8 0.0 10.3
Texasa 703 182 1232 67 3 2209 28
12.7 9.9 15.3 11.2 10.3 13.7
Utaha 285 5 84 14 3 401
13.7 19.4 19.3 15.5 8.8 14.8
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*

Total includes unknown maternal age.

a

Active case-finding

p

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

*

Total includes unknown race.

a

active case-finding

p

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

Table 3.

a Trisomy 18 Counts and Prevalence by Maternal Age, 2006 to 2010 (Prevalence per 10,000 Live Births)
Maternal Age (Years)
State <20 20–24 25–29 30–34 35–39 401 Total* Notes
Live births
Alaskap <6 <6 <6 <6 <6 <6 10 1
. . . . . . 1.8
Department of Defensep 5 14 27 14 18 16 99 6
1.6 0.7 1.5 1.4 4.2 17.9 1.7
Floridap 12 43 34 39 40 49 217
1.0 1.5 1.1 1.6 3.0 14.9 1.9
Indianap 3 5 12 11 8 13 53 10
0.6 0.4 0.9 1.2 2.1 14.2 1.2
Louisianaa <5 <5 7 <5 5 <5 24 12
. . 1.8 . 4.7 . 1.8
Minnesotaa 3 1 3 3 6 8 24 16
2.4 0.5 0.9 0.9 3.5 18.4 2.0
Nevadap 4 3 5 4 2 9 32 23
1.4 0.7 0.9 1.0 0.9 17.4 1.7
New Jerseyp 1 9 6 11 17 13 57 22
0.3 1.0 0.4 0.7 1.8 5.6 1.0
New Yorkp 5 19 22 19 42 39 146
0.6 0.8 0.7 0.6 2.2 7.7 1.2
Vermontp 0 2 0 0 0 1 3 30
0.0 2.8 0.0 0.0 0.0 10.2 0.9
West Virginiap 1 1 3 1 0 3 11 32
0.8 0.3 1.0 0.6 0.0 26.1 1.1
Live births and stillbirths
Arizonaa 3 15 23 17 12 18 89 3
0.5 1.2 1.7 1.7 2.4 13.6 1.8
Delawarea 1 1 2 1 2 3 10 5
2.8 1.1 2.0 1.2 5.0 33.7 2.8
Illinoisp 7 23 27 27 51 38 192 9
0.8 1.2 1.1 1.2 4.6 15.2 2.2
Kansasp 0 4 4 5 5 7 26 11
0.0 0.7 0.7 1.2 2.9 19.0 1.3
Kentuckyp 1 5 3 4 14 6 45
0.3 0.6 0.4 0.8 6.3 11.6 1.6
Marylandp 4 10 14 20 23 36 108 14
1.2 1.3 1.4 2.0 4.1 25.1 2.8
Massachusettsa 4 11 7 10 10 20 62 13
1.7 1.8 0.7 0.9 1.4 11.7 1.6
Michiganp 6 21 28 25 20 28 132
1.0 1.4 1.6 1.8 3.1 19.4 2.2
Mississippip 1 7 7 8 7 2 32
0.3 1.0 1.2 2.4 5.1 7.0 1.5
Missourip 5 17 14 13 18 16 83 17
1.4 1.9 1.4 2.0 6.4 27.6 2.6
North Dakotap 0 3 1 0 1 0 5 19
0.0 2.6 0.6 0.0 2.7 0.0 1.1
Nebraskap 2 7 11 7 8 8 43 20
1.8 2.1 2.5 2.3 6.3 30.4 3.2
Ohiop 2 2 2 1 6 10 23
1.2 0.5 0.5 0.3 4.1 34.1 1.5
Tennesseep 9 18 17 4 18 10 76
1.7 1.5 1.4 0.5 5.0 13.8 1.8
Virginiap 4 7 7 21 19 17 89 29
0.9 0.6 0.5 1.6 2.7 10.1 1.7
Wisconsinp 6 6 15 13 10 16 66
2.1 0.8 1.4 1.6 2.8 21.3 2.0
All pregnancy outcomes
Arkansasa 6 6 9 9 11 14 55 2
2.1 0.9 1.6 2.8 8.4 54.1 2.7
Coloradop 6 17 19 31 44 39 164 4
1.9 2.2 2.0 3.7 9.8 38.3 4.7
Georgia/CDCa 2 13 11 14 36 53 131 7
1.0 2.3 1.6 2.0 8.9 52.1 4.9
Iowaa 7 4 13 16 17 12 69 8
4.1 0.8 2.0 3.6 9.5 32.9 3.5
North Carolinaa 16 36 22 26 43 36 181 18
2.2 2.1 1.3 1.9 6.4 25.6 2.8
New Hampshirea 0 1 2 2 1 5 11 21
0.0 0.7 1.0 1.0 1.0 23.1 1.6
Oklahomaa 6 13 10 10 9 8 56 24
1.7 1.5 1.3 2.2 4.8 20.8 2.1
Puerto Ricoa 13 11 16 10 22 11 83 25
3.2 1.5 2.7 2.7 14.1 31.7 3.6
Rhode Islandp 1 2 2 3 5 4 19 26
1.9 1.6 1.3 2.0 6.2 21.5 3.3
South Carolinaa 6 5 9 2 8 11 41 27
2.6 0.9 1.7 0.6 4.9 31.8 2.2
Texasa 32 73 66 70 113 94 448 28
1.5 1.6 1.5 2.2 7.3 28.8 2.8
Utaha 4 12 22 19 22 20 99
2.3 1.7 2.3 3.1 10.1 47.6 3.7
b Trisomy 18 Counts and Prevalence by Maternal Race/Ethnicity, 2006–2010 (Prevalence per 10,000 Live Births)
Maternal race/ethnicity
State White
non-Hispanic		 Black
non-Hispanic		 Hispanic Asian and
Pacific Islanders		 American Indian/
Alaska Native		 Total* Notes
Live births
Alaskap <6 . . . <6 10 1
. . . . . 1.8
Department of Defensep 70 9 14 5 0 99 6
1.9 1.1 2.2 1.9 0.0 1.7
Floridap 80 67 59 6 0 217
1.6 2.7 1.8 1.9 0.0 1.9
Indianap 37 9 5 1 0 53 10
1.2 1.6 1.3 1.0 0.0 1.2
Louisianaa 15 5 <5 <5 0 24 12
2.1 0.9 . . 0.0 1.8
Minnesotaa 11 8 1 4 0 24 16
1.7 3.6 0.7 2.6 0.0 2.0
Nevadap 9 1 19 2 0 32 23
1.1 0.6 2.5 1.3 0.0 1.7
New Jerseyp 20 15 17 5 0 57 22
0.8 1.8 1.2 0.9 0.0 1.0
New Yorkp 54 38 41 10 0 146
0.9 1.9 1.5 0.8 0.0 1.2
Vermontp 3 0 0 0 0 3 30
1.0 0.0 0.0 0.0 0.0 0.9
West Virginiap 9 1 0 0 0 11 32
1.0 2.7 0.0 0.0 0.0 1.1
Live births and stillbirths
Arizonaa 36 3 35 5 10 89 3
1.8 1.5 1.7 3.2 3.3 1.8
Delawarea 4 3 2 1 0 10 5
2.1 3.1 3.7 6.4 0.0 2.8
Illinoisp 109 35 36 11 0 192 9
2.4 2.3 1.7 2.4 0.0 2.2
Kansasp 14 1 9 0 0 26 11
1.0 0.7 2.7 0.0 0.0 1.3
Kentuckyp 40 1 3 0 0 45
1.7 0.4 2.1 0.0 0.0 1.6
Marylandp 59 21 15 6 0 108 14
3.4 1.6 2.9 2.3 0.0 2.8
Massachusettsa 29 11 15 4 0 62 13
1.1 3.3 2.8 1.4 0.0 1.6
Michiganp 86 33 5 3 0 132
2.0 3.0 1.1 1.4 0.0 2.2
Mississippip 16 13 2 0 0 32
1.5 1.3 2.7 0.0 0.0 1.5
Missourip 61 12 7 2 0 83 17
2.5 2.4 3.9 2.6 0.0 2.6
North Dakotap 4 0 0 1 0 5 19
1.1 0.0 0.0 16.6 0.0 1.1
Nebraskap 31 5 5 0 1 43 20
3.1 5.7 2.5 0.0 4.8 3.2
Ohiop 15 8 0 0 0 23
1.3 3.2 0.0 0.0 0.0 1.5
Tennesseep 51 14 10 1 0 76
1.8 1.6 2.6 1.2 0.0 1.8
Virginiap 43 17 7 7 0 89 29
1.4 1.5 1.0 1.9 0.0 1.7
Wisconsinp 50 7 6 2 0 66
2.0 2.0 1.8 1.4 0.0 2.0
All pregnancy outcomes
Arkansasa 38 11 6 0 0 55 2
2.8 2.8 2.8 0.0 0.0 2.7
Coloradop 35 3 33 5 0 164 4
1.7 1.9 3.1 4.3 0.0 4.7
Georgia/CDCa 47 33 17 10 1 131 7
6.3 3.2 2.7 6.2 39.1 4.9
Iowaa 53 6 8 1 0 69 8
3.2 7.2 4.9 2.1 0.0 3.5
North Carolinaa 99 38 25 10 2 181 18
2.8 2.5 2.4 5.0 2.3 2.8
New Hampshirea 6 0 0 0 0 11 21
1.0 0.0 0.0 0.0 0.0 1.6
Oklahomaa 37 9 2 1 7 56 24
2.1 3.7 0.6 1.6 2.3 2.1
Puerto Ricoa 0 0 83 0 0 83 25
. . 3.6 . . 3.6
Rhode Islandp 11 1 4 0 0 19 26
3.1 2.0 3.4 0.0 0.0 3.3
South Carolinaa 22 13 6 0 0 41 27
2.1 2.2 3.5 0.0 0.0 2.2
Texasa 147 49 223 22 0 448 28
2.7 2.7 2.8 3.7 0.0 2.8
Utaha 75 5 15 1 1 99
3.6 19.4 3.4 1.1 2.9 3.7
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*

Total includes unknown maternal age.

a

active case-finding

p

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

*

Total includes unknown race.

a

active case-finding

p

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

Table 4.

a Trisomy 13 Counts and Prevalence by Maternal Age, 2006 to 2010 (Prevalence per 10,000 Live Births)
Maternal age (years)
State <20 20–24 25–29 30–34 35–39 40+ Total* Notes
Live births
Alaskap <6 <6 <6 <6 <6 <6 7 1
. . . . . . 1.3
Department of Defensep 4 19 17 16 6 4 68 6
1.3 1.0 1.0 1.6 1.4 4.5 1.2
Floridap 5 20 21 20 21 13 100
0.4 0.7 0.7 0.8 1.6 4.0 0.9
Indianap 0 5 4 8 5 1 23 10
0.0 0.4 0.3 0.9 1.3 1.1 0.5
Louisianaa <5 <5 <5 0 0 <5 9 12
. . . 0.0 0.0 . 0.7
Minnesotaa 0 4 1 1 4 1 11 16
0.0 2.1 0.3 0.3 2.3 2.3 0.9
Nevadap 1 4 0 3 1 1 12 23
0.3 1.0 0.0 0.7 0.5 1.9 0.6
New Jerseyp 1 2 2 5 4 3 17 22
0.3 0.2 0.1 0.3 0.4 1.3 0.3
New Yorkp 4 21 22 16 13 14 90
0.5 0.8 0.7 0.5 0.7 2.8 0.7
Vermontp 0 0 0 1 0 0 1 30
0.0 0.0 0.0 1.2 0.0 0.0 0.3
West Virginiap 0 1 1 0 1 0 6 32
0.0 0.3 0.3 0.0 1.4 0.0 0.6
Live births and stillbirths
Arizonaa 5 13 11 8 10 6 53 3
0.9 1.0 0.8 0.8 2.0 4.5 1.1
Delawarea 0 0 0 0 1 0 1 5
0.0 0.0 0.0 0.0 2.5 0.0 0.3
Illinoisp 7 18 19 26 25 7 106 9
0.8 1.0 0.8 1.2 2.3 2.8 1.2
Kansasp 0 2 3 1 3 0 13 11
0.0 0.4 0.5 0.2 1.7 0.0 0.7
Kentuckyp 3 11 6 1 2 1 25
0.8 1.3 0.7 0.2 0.9 1.9 0.9
Marylandp 3 2 5 11 9 10 40 14
0.9 0.3 0.5 1.1 1.6 7.0 1.0
Massachusettsa 2 4 5 2 8 5 26 13
0.9 0.7 0.5 0.2 1.1 2.9 0.7
Michiganp 4 10 16 14 5 5 57
0.7 0.7 0.9 1.0 0.8 3.5 0.9
Mississippip 3 0 4 8 1 0 16
0.8 0.0 0.7 2.4 0.7 0.0 0.7
Missourip 4 10 9 7 8 4 42 17
1.1 1.1 0.9 1.1 2.9 6.9 1.3
Nebraskap 1 4 9 5 2 1 22 20
0.9 1.2 2.1 1.6 1.6 3.8 1.6
Ohiop 0 3 3 3 1 2 12
0.0 0.8 0.7 0.9 0.7 6.8 0.8
Tennesseep 3 9 11 5 6 1 35
0.6 0.7 0.9 0.6 1.7 1.4 0.8
Virginiap 4 8 7 10 11 11 54 29
0.9 0.7 0.5 0.8 1.6 6.5 1.0
Wisconsinp 2 2 8 6 7 2 27
0.7 0.3 0.8 0.7 2.0 2.7 0.8
All pregnancy outcomes
Arkansasa 2 5 6 6 2 1 22 2
0.7 0.8 1.1 1.8 1.5 3.9 1.1
Coloradop 2 8 8 29 30 7 89 4
0.6 1.0 0.8 3.4 6.7 6.9 2.6
Georgia/CDCa 1 7 7 13 11 6 45 7
0.5 1.2 1.0 1.9 2.7 5.9 1.7
Iowaa 0 5 14 5 4 5 33 8
0.0 1.0 2.1 1.1 2.2 13.7 1.7
North Carolinaa 8 17 14 17 13 7 76 18
1.1 1.0 0.8 1.2 1.9 5.0 1.2
New Hampshirea 0 0 0 1 1 2 5 21
0.0 0.0 0.0 0.5 1.0 9.3 0.7
Oklahomaa 1 9 11 3 5 2 31 24
0.3 1.0 1.4 0.7 2.7 5.2 1.2
Puerto Ricoa 3 6 4 6 8 3 30 25
0.7 0.8 0.7 1.6 5.1 8.7 1.3
Rhode Islandp 0 2 1 1 5 0 10 26
0.0 1.6 0.7 0.7 6.2 0.0 1.7
South Carolinaa 3 3 6 4 2 2 20 27
1.3 0.6 1.2 1.1 1.2 5.8 1.1
Texasa 15 46 40 35 34 21 191 28
0.7 1.0 0.9 1.1 2.2 6.4 1.2
Utaha 2 12 10 14 13 5 56
1.1 1.7 1.1 2.3 6.0 11.9 2.1
b Trisomy 13 Counts and Prevalence by Maternal Race/Ethnicity, 2006 to 2010 (Prevalence per 10,000 Live Births)
Maternal race/ethnicity
State White
non-Hispanic		 Black
non-Hispanic		 Hispanic Asian and
Pacific Islanders
Non-Hispanic		 American Indian/
Alaska Native
Non-Hispanic		 Total* Notes
Live births
Alaskap <6 . . . <6 7 1
. . . . . 1.3
Department of Defensep 40 19 7 1 0 68 6
1.1 2.3 1.1 0.4 0.0 1.2
Floridap 42 32 23 0 0 100
0.8 1.3 0.7 0.0 0.0 0.9
Indianap 14 4 5 0 0 23 10
0.4 0.7 1.3 0.0 0.0 0.5
Louisianaa <5 <5 <5 0 0 9 12
. . . 0.0 0.0 0.7
Minnesotaa 2 5 4 0 0 11 16
0.3 2.3 2.9 0.0 0.0 0.9
Nevadap 5 1 5 0 0 12 23
0.6 0.6 0.7 0.0 0.0 0.6
New Jerseyp 5 4 6 1 0 17 22
0.2 0.5 0.4 0.2 0.0 0.3
New Yorkp 42 18 22 8 0 90
0.7 0.9 0.8 0.6 0.0 0.7
Vermontp 1 0 0 0 0 1 30
0.3 0.0 0.0 0.0 0.0 0.3
West Virginiap 3 0 0 0 0 6 32
0.3 0.0 0.0 0.0 0.0 0.6
Live births and stillbirths
Arizonaa 16 4 24 7 2 53 3
0.8 2.1 1.2 4.5 0.7 1.1
Delawarea 1 0 0 0 0 1 5
0.5 0.0 0.0 0.0 0.0 0.3
Illinoisp 70 19 12 4 0 106 9
1.5 1.3 0.6 0.9 0.0 1.2
Kansasp 4 0 2 2 0 13 11
0.3 0.0 0.6 3.5 0.0 0.7
Kentuckyp 18 2 3 0 0 25
0.8 0.8 2.1 0.0 0.0 0.9
Marylandp 21 13 3 2 0 40 14
1.2 1.0 0.6 0.8 0.0 1.0
Massachusettsa 18 3 5 0 0 26 13
0.7 0.9 0.9 0.0 0.0 0.7
Michiganp 37 12 3 2 0 57
0.9 1.1 0.7 0.9 0.0 0.9
Mississippip 6 9 0 1 0 16
0.5 0.9 0.0 4.3 0.0 0.7
Missourip 26 8 6 2 0 42 17
1.1 1.6 3.3 2.6 0.0 1.3
Nebraskap 14 2 5 0 0 22 20
1.4 2.3 2.5 0.0 0.0 1.6
Ohiop 10 2 0 0 0 12
0.9 0.8 0.0 0.0 0.0 0.8
Tennesseep 17 12 3 1 0 35
0.6 1.4 0.8 1.2 0.0 0.8
Virginiap 17 7 11 1 0 54 29
0.6 0.6 1.6 0.3 0.0 1.0
Wisconsinp 20 3 3 1 0 27
0.8 0.9 0.9 0.7 0.0 0.8
All pregnancy outcomes
Arkansasa 16 4 2 0 0 22 2
1.2 1.0 0.9 0.0 0.0 1.1
Coloradop 22 1 14 1 1 89 4
1.1 0.6 1.3 0.9 4.0 2.6
Georgia/CDCa 13 24 3 0 0 45 7
1.7 2.3 0.5 0.0 0.0 1.7
Iowaa 24 1 4 1 0 33 8
1.4 1.2 2.5 2.1 0.0 1.7
North Carolinaa 34 23 14 2 1 76 18
1.0 1.5 1.3 1.0 1.1 1.2
New Hampshirea 3 1 0 0 0 5 21
0.5 8.8 0.0 0.0 0.0 0.7
Oklahomaa 20 4 2 0 5 31 24
1.2 1.6 0.6 0.0 1.7 1.2
Puerto Ricoa 0 0 30 0 0 30 25
. . 1.3 . . 1.3
Rhode Islandp 2 2 3 1 0 10 26
0.6 4.0 2.5 3.9 0.0 1.7
South Carolinaa 8 10 1 0 0 20 27
0.8 1.7 0.6 0.0 0.0 1.1
Texasa 63 23 94 10 0 191 28
1.1 1.3 1.2 1.7 0.0 1.2
Utaha 37 2 16 1 0 56
1.8 7.8 3.7 1.1 0.0 2.1
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*

Total includes unknown maternal age.

a

active case-finding

p

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

*

Total includes unknown race.

a

active case-finding

p

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

Figure 1.

Figure 1

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

Figure 3.

Figure 3

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

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).

Table 5.

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

State category
by pregnancy
outcomes		 Down syndrome (Trisomy 21)
Trisomy 18
 Trisomy 13
2000–2004b 2006–2010 PR(95% CI) 2000–2004b 2006–2010 PR (95% CI) 2000–2004b 2006–2010 PR (95% CI)
Live births onlyc
(n56)		 12.17 12.33 1.01 (0.97,1.06) 1.23 1.41 1.15 (1.01,1.32) 0.87 0.70 0.80 (0.67,0.96)
Live births and
stillbirthsd
(n59)		 11.96 12.84 1.07 (1.03,1.12) 1.65 1.93 1.17 (1.05,1.30) 0.85 0.97 1.13 (0.97,1.32)
All pregnancy
outcomese
(n59)		 13.36 14.44 1.08 (1.04,1.12) 2.51 3.19 1.27 (1.17,1.38) 1.25 1.42 1.14 (1.01,1.28)
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PR, prevalence ratio; CI, confidence intervals.

a

Prevalence per 10,000 live births.

b

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.

c

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

d

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

e

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

DISCUSSION

Data 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 1–3, 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 1–3. 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

Supplement

Figure 2.

Figure 2

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

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.

Footnotes

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

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