Skip to main content
. Author manuscript; available in PMC: 2022 Mar 11.
Published in final edited form as: Birth Defects Res. 2022 Jan 19;114(2):45–56. doi: 10.1002/bdr2.1980

TABLE 4.

Co-occurring cardiovascular and chromosomal birth defects for critical congenital heart defect cases (CCHDs) from 9 active case-finding population-based surveillance programs that ascertained more than live births,a 2014-2018

Critical Congenital Heart Defects (CCHDs)b (n=7,726)
 Coarctation of aorta (n=2,074)
 Common truncus (truncus arteriosus or TA) (n=249)
 Dextro-Transposition of great arteries(d-TGA) (n=942)
 Double outlet right ventricle (DORV) (n=907)
 Ebstein anomaly (n=283)
 Hypoplastic left heartsyndrome (n=948)
Variable values Count Percent 95% CIc Count Percent 95% CIc Count Percent 95% CIc Count Percent 95% CIc Count Percent 95% CIc Count Percent 95% CIc Count Percent 95% CIc
Cardiovascular (745-747, Q20-28)
Aortic valve stenosis 247 3.2 2.8-3.6 172 8.3 7.1-9.6 4 1.6 0.4-4.1 17 1.8 1.1-2.9 25 2.8 1.8-4.0 3 1.1 0.2-3.1 10 1.1 0.5-1.9
Atrial septal defectd 2,440 38.9 37.7-40.1 583 35.9 33.5-38.2 86 42.0 35.1-49.0 368 47.0 43.5-50.6 310 43.1 39.4-46.8 84 37.5 31.1-44.2 308 41.2 37.7-44.9
Atrioventricular septal defect 499 6.5 5.9-7.0 113 5.4 4.5-6.5 10 4.0 1.9-7.3 71 7.5 5.9-9.4 135 14.9 12.6-17.4 2 0.7 0.1-2.5 49 5.2 3.8-6.8
Coarctation of aorta --g -- 4 1.6 0.4-4.1 99 10.5 8.6-12.6 119 13.1 11.0-15.5 9 3.2 1.5-6.0 220 23.2 20.6-26.0
Common truncus (truncus arteriosus or TA) --g 4 0.2 0.1-0.5 -- 5 0.5 0.2-1.2 1 0.1 0.0-0.6 0 2 0.2 0.0-0.8
Dextro-Transposition of great arteries (d-TGA) --g 99 4.8 3.9-5.8 5 2.0 0.7-4.6 -- 47 5.2 3.8-6.8 5 1.8 0.6-4.1 14 1.5 0.8-2.5
Double outlet right ventricle (DORV) --g 119 5.7 4.8-6.8 1 0.4 0.0-2.2 47 5.0 3.7-6.6 -- 4 1.4 0.4-3.6 79 8.3 6.7-10.3
Ebstein anomaly --g 9 0.4 0.2-0.8 0 5 0.5 0.2-1.2 4 0.4 0.1-1.1 -- 1 0.1 0.0-0.6
Hypoplastic left heart syndrome --g 220 10.6 9.3-12.0 2 0.8 0.1-2.9 14 1.5 0.8-2.5 79 8.7 7.0-10.7 1 0.4 0.0-2.0 --
Interrupted aortic arch (IAA) --g 28 1.4 0.9-1.9 24 9.6 6.3-14.0 23 2.4 1.6-3.6 26 2.9 1.9-4.2 2 0.7 0.1-2.5 20 2.1 1.3-3.2
Pulmonary valve atresia --g 4 0 0.1-0.5 5 2.0 0.7-4.6 58 6.2 4.7-7.9 100 11.0 9.1-13.2 32 11.3 7.9-15.6 9 0.9 0.4-1.8
Single ventricle --g 40 1.9 1.4-2.6 2 0.8 0.1-2.9 81 8.6 6.9-10.6 64 7.1 5.5-8.9 3 1.1 0.2-3.1 18 1.9 1.1-3.0
Tetralogy of Fallot (TOF) --g 8 0.4 0.2-0.8 6 2.4 0.9-5.2 27 2.9 1.9-4.1 112 12.3 10.3-14.7 8 2.8 1.2-5.5 1 0.1 0.0-0.6
Total anomalous pulmonary venous connection(TAPVC) --g 30 1.4 1.0-2.1 3 1.2 0.2-3.5 35 3.7 2.6-5.1 80 8.8 7.1-10.9 0 29 3.1 2.1-4.4
Tricuspid valve atresia --g 35 1.7 1.2-2.3 3 1.2 0.2-3.5 62 6.6 5.1-8.4 26 2.9 1.9-4.2 3 1.1 0.2-3.1 8 0.8 0.4-1.7
Ventricular septal defecte 1,494 21.7 20.7-22.6 634 34.0 31.8-36.2 101 44.5 37.9-51.2 196 23.0 20.2-26.0 294 37.5 34.1-41.0 37 14.7 10.6-19.7 129 15.3 12.9-17.9
Chromosomal (758, Q90-99) 1,218 15.8 15.0-16.6 318 15.3 13.8-17.0 65 26.1 20.8-32.0 55 5.8 4.4-7.5 152 16.8 14.4-19.4 21 7.4 4.7-11.1 127 13.4 11.3-15.7
Deletion 22q 11.2e 144 2.5 2.1-2.9 1 0.1 0.0-0.4 25 13.7 9.1-19.6 0 5 0.7 0.2-1.7 0 0
Trisomy 13 82 1.1 0.8-1.3 16 0.8 0.4-1.2 4 1.6 0.4-4.1 3 0.3 0.1-0.9 20 2.2 1.4-3.4 0 13 1.4 0.7-2.3
Trisomy 18 132 1.7 1.4-2.0 25 1.2 0.8-1.8 0 2 0.2 0.0-0.8 51 5.6 4.2-7.3 0 21 2.2 1.4-3.4
Trisomy 21 (Down syndrome) 282 3.7 3.2-4.1 81 3.9 3.1-4.8 3 1.2 0.2-3.5 3 0.3 0.1-0.9 15 1.7 0.9-2.7 11 3.9 2.0-6.8 4 0.4 0.1-1.1
Turner syndromef 70 1.0 0.8-1.3 57 3.1 2.3-3.9 0 0 0 0 18 2.1 1.3-3.3
Interrupted aortic arch (IAA) (n=298)
 Pulmonary valve atresia (n=555)
 Single ventricle (n=278)
 Tetralogy of Fallot (TOF) (n=1,850)
 Total anomalous pulmonary venous connection(TAPVC) (n=585)
 Tricuspid valve atresia (n=392)
Variable values Count Percent 95% CIc Count Percent 95% CIc Count Percent 95% CIc Count Percent 95% CIc Count Percent 95% CIc Count Percent 95% CIc
Cardiovascular (745-747, Q20-28)
Aortic valve stenosis 36 12.1 8.6-16.3 7 1.3 0.5-2.6 8 2.9 1.3-5.6 6 0.3 0.1-0.7 7 1.2 0.5-2.4 9 2.3 1.1-4.3
Atrial septal defectd 141 47.3 41.5-53.2 169 38.5 33.9-43.2 104 41.6 35.4-48.0 516 32.3 30.0-34.6 245 51.3 46.7-55.8 161 47.5 42.1-53.0
Atrioventricular septal defect 11 3.7 1.9-6.5 90 16.2 13.2-19.6 57 20.5 15.9-25.7 93 5.0 4.1-6.1 99 16.9 14.0-20.2 29 7.4 5.0-10.5
Coarctation of aorta 28 9.4 6.3-13.3 4 1 0.2-1.8 40 14.4 10.5-19.1 8 0.4 0.2-0.9 30 5.1 3.5-7.2 35 8.9 6.3-12.2
Common truncus (truncus arteriosus or TA) 24 8.1 5.2-11.7 5 0.9 0.3-2.1 2 0.7 0.1-2.6 6 0.3 0.1-0.7 3 0.5 0.1-1.5 3 0.8 0.2-2.2
Dextro-Transposition of great arteries (d-TGA) 23 7.7 5.0-11.4 58 10.5 8.0-13.3 81 29.1 23.9-34.9 27 1.5 1.0-2.1 35 6.0 4.2-8.2 62 15.8 12.3-19.8
Double outlet right ventricle (DORV) 26 8.7 5.8-12.5 100 18.0 14.9-21.5 64 23.0 18.2-28.4 112 6.1 5.0-7.2 80 13.7 11.0-16.7 26 6.6 4.4-9.6
Ebstein anomaly 2 0.7 0.1-2.4 32 5.8 4.0-8.0 3 1.1 0.2-3.1 8 0.4 0.2-0.9 0 3 0.8 0.2-2.2
Hypoplastic left heart syndrome 20 6.7 4.1-10.2 9 1.6 0.7-3.1 18 6.5 3.9-10.0 1 0.1 0.0-0.3 29 5.0 3.3-7.0 8 2.0 0.9-4.0
Interrupted aortic arch (IAA) -- 0 14 5.0 2.8-8.3 3 0.2 0.0-0.5 1 0 0.0-0.9 13 3.3 1.8-5.6
Pulmonary valve atresia 0 -- 52 18.7 14.3-23.8 --g 60 10.3 7.9-13.0 81 20.7 16.8-25.0
Single ventricle 14 4.7 2.6-7.8 52 9.4 7.1-12.1 -- 18 1.0 0.6-1.5 41 7.0 5.1-9.4 35 8.9 6.3-12.2
Tetralogy of Fallot (TOF) 3 1.0 0.2-2.9 --g 18 6.5 3.9-10.0 -- 11 1.9 0.9-3.3 26 6.6 4.4-9.6
Total anomalous pulmonary venous connection(TAPVC) 1 0 0.0-1.9 60 10.8 8.4-13.7 41 14.7 10.8-19.5 11 0.6 0.3-1.1 -- 13 3.3 1.8-5.6
Tricuspid valve atresia 13 4.4 2.3-7.3 81 14.6 11.8-17.8 35 12.6 8.9-17.1 26 1.4 0.9-2.1 13 2.2 1.2-3.8 --
Ventricular septal defecte 172 64.7 58.6-70.4 --g 60 23.3 18.2-28.9 --g 49 9.6 7.2-12.5 139 39.3 34.1-44.6
Chromosomal (758, Q90-99) 91 30.5 25.4-36.1 34 7.2 5.0-9.9 24 8.6 5.6-12.6 423 22.9 21.0-24.8 38 6.5 4.6-8.8 48 12.2 9.2-15.9
Deletion 22q 11.2e 49 21.9 16.6-27.9 53 9.5 7.2-12.3 0 63 4.5 3.5-5.8 0 1 0.4 0.0-2.4
Trisomy 13 2 0.7 0.1-2.4 2 0.5 0.1-1.9 1 0.4 0.0-2.0 30 1.6 1.1-2.3 0 3 0.8 0.2-2.2
Trisomy 18 5 1.7 0.5-3.9 5 0.9 0.3-2.1 3 1.1 0.2-3.1 30 1.6 1.1-2.3 0 9 2.3 1.1-4.3
Trisomy 21 (Down syndrome) 4 1.3 0.4-3.4 1 0.2 0.0-1.0 6 2.2 0.8-4.6 159 8.6 7.4-10.0 2 0.3 0.0-1.2 5 1.3 0.4-3.0
Turner syndromef 2 0.8 0.1-2.7 10 2 0.9-3.3 0 0 1 0.2 0.0-1.1 1 0 0.0-1.6
a

Programs with active case-finding methodology that ascertained more than live births: Arizona, California, Delaware, Georgia (Metropolitan Atlanta), North Carolina, Puerto Rico, South Carolina, Texas, Utah. Programs provided the code ranges used to define each birth defect where they differed from those requested by the National Birth Defects Prevention Network (NBDPN) [appendix 3.1]. If a program defined a birth defect using a different code range then the created estimates use the program-specific code range, when no alternate code range was specified the NBDPN code range was used. Cases were included when gestational age was greater than or equal to 20 completed weeks gestation. If gestational age was missing birth weight was used as a proxy.

b

The CCHDs column displays a count, prevalence, and CI for cases with any of the individual CCHDs presented in the table. Cases with more than one CCHD code were counted only once in this summarized category.

c

CI: Confidence interval calculated using exact binomial methodology.

d

Excludes Arizona and Utah.

e

Excludes Arizona.

f

Excludes Arizona. Percent co-occurring is calculated as female and unknown cases of Turner syndrome divided by female cases of each CCHD.

g

Cells are left blank where the NBDPN case definition stipulates that the two birth defects cannot be reported together or where one condition is considered part of another.