TABLE IV.
Major Defects Seen Among CasesWith Laterality Defects, National Birth Defects Prevention Study, 1998–2007
| All laterality defects (N =517)
|
Heterotaxy (N = 378)
|
Situs InversusTotalis (N = 139)
|
Fisher’s Exact Test, Two-sided P-valuea | ||||
|---|---|---|---|---|---|---|---|
| Congenital heart defects. total cases | 425 | 82.2 | 365 | 96.6 | 60 | 43.2 | *** |
| Single ventricle, total | 61 | 11.8 | 53 | 14.0 | 8 | 5.8 | |
| DIRV, DILV | 25 | 4.8 | 22 | 5.8 | 3 | 2.2 | |
| Single ventricle indeterminate, unspecified | 36 | 7.0 | 31 | 8.2 | 5 | 3.6 | |
| Conotruncal | 204 | 39.5 | 179 | 47.4 | 25 | 18.0 | |
| Truncusarteriosus | 4 | 0.8 | 4 | 1.1 | 0 | 0 | |
| TOF | 20 | 3.9 | 16 | 4.2 | 4 | 2.9 | |
| d-loop TGA (includesTGA with VSD) | 72 | 13.9 | 62 | 16.4 | 10 | 7.2 | |
| Double outlet right ventricle | 108 | 20.9 | 97 | 25.7 | 11 | 7.9 | *** |
| l-loop TGA, not single ventricle | 36 | 7.0 | 26 | 6.9 | 10 | 7.2 | |
| AVCD (AVSD), complete | 190 | 36.8 | 183 | 48.4 | 7 | 5.0 | *** |
| Left-sided obstructive defects | 26 | 5.0 | 22 | 6.3 | 2 | 1.4 | |
| Aortic stenosis | 10 | 1.9 | 10 | 2.6 | 0 | 0 | |
| Coarctation | 2 | 0.4 | 2 | 0.5 | 0 | 0 | |
| Hypoplastic left heart syndrome | 14 | 2.7 | 12 | 3.2 | 2 | 1.4 | |
| Right-sided defects | 173 | 33.5 | 153 | 40.5 | 20 | ||
| Ebstein anomaly | 2 | 0.4 | 1 | 0.3 | 1 | 0.7 | |
| Pulmonary stenosis | 82 | 15.9 | 73 | 19.3 | 9 | 6.5 | *** |
| Pulmonary atresia with intact septum | 16 | 3.1 | 14 | 3.7 | 2 | 1.4 | |
| Non-TOF pulmonary atresia with VSD | 73 | 14.1 | 65 | 17.2 | 8 | 5.8 | *** |
| TAPVR | 121 | 23.4 | 118 | 31.2 | 3 | 2.2 | *** |
| PAVPR | 34 | 6.6 | 33 | 8.7 | 1 | 0.7 | *** |
| Ventricular septal defects, total | 63 | 12.2 | 45 | 11.9 | 18 | 12.9 | *** |
| VSD membranous | 25 | 4.8 | 15 | 4.0 | 10 | 7.2 | |
| VSD malalignment-type | 38 | 7.4 | 30 | 7.9 | 8 | 5.8 | |
| Atrial septal defects | 119 | 23.0 | 100 | 26.5 | 19 | 13.7 | *** |
| ASD secundum | 82 | 15.9 | 68 | 18.0 | 14 | 10.1 | |
| ASD NOS | 30 | 5.8 | 25 | 6.6 | 5 | 3.6 | |
| ASD other | 7 | 1.4 | 7 | 1.9 | 0 | 0.0 | |
| Absent right AV valve (e.g. tricuspid atresia) | 9 | 1.7 | 8 | 2.1 | 1 | 0.7 | |
| Absent left AV valve (e.g., mitral atresia) | 26 | 5.0 | 20 | 5.3 | 6 | 4.3 | |
| Vena cava, OS (e.g., interrupted IVC) | 161 | 31.1 | 153 | 40.5 | 8 | 5.8 | *** |
| SVC/persistent left or bilateral | 145 | 28.0 | 137 | 36.2 | 8 | 5.8 | *** |
| Visceral defects, total casesb,c | 517 | 378 | 139 | ||||
| Situs inversus totalis | 163 | 31.5 | 24 | 6.3 | 139 | 100.0 | |
| Situs ambiguous, right isomerism | 66 | 12.8 | 66 | 17.5 | 0 | 0.0 | |
| Situs ambiguous, left isomerism | 70 | 13.5 | 70 | 18.5 | 0 | 0.0 | |
| Situs ambiguous, sidedness unclear, or NOS | 169 | 32.7 | 169 | 44.7 | 0 | 0.0 | |
| Heterotaxy NOS | 104 | 20.1 | 104 | 27.5 | 0 | 0.0 | |
| Spleen anomalies | 240 | 46.4 | 230 | 60.8 | 10 | 7.2 | |
| Asplenia (absent spleen) | 149 | 28.8 | 144 | 38.1 | 5 | 3.6 | |
| Polysplenia | 77 | 14.9 | 72 | 19.0 | 5 | 3.6 | |
| Right-sided spleen | 14 | 2.7 | 14 | 3.7 | 0 | 0.0 | |
| Malrotation | 147 | 28.4 | 136 | 36.0 | 11 | 7.9 | |
| Extracardiac defects, total cases | 41 | 33 | 8 | ||||
| Central nervous system, all | 7 | 1.4 | 5 | 1.3 | 2 | 1.4 | |
| Neural tube defects, all | 2 | 0.4 | 2 | 0.5 | 0 | 0.0 | |
| Anencephaly and craniorachischisis | 1 | 0.2 | 1 | 0.3 | 0 | 0.0 | |
| Spina bifida | 1 | 0.2 | 1 | 0.3 | 0 | 0.0 | |
| Central nervous system, not NTD | 5 | 1.0 | 3 | 0.8 | 2 | 1.4 | |
| Holoprosencephaly | 1 | 0.2 | 1 | 0.3 | 0 | 0.0 | |
| Hydrocephaly | 1 | 0.2 | 1 | 0.3 | 0 | 0.0 | |
| Dandy-Walker malformation | 3 | 0.6 | 1 | 0.3 | 2 | 1.4 | |
| Craniosynostosis | 1 | 0.2 | 1 | 0.3 | 0 | 0.0 | |
| Orofacial clefts | 5 | 1.0 | 5 | 1.3 | 0 | 0.0 | |
| Cleft lip +/− cleft palate | 2 | 0.4 | 2 | 0.5 | 0 | 0.0 | |
| Cleft palate | 3 | 0.6 | 3 | 0.8 | 0 | 0.0 | |
| Anotia/microtia | 4 | 0.8 | 2 | 0.5 | 2 | 1.4 | |
| Esophageal atresia | 3 | 0.6 | 3 | 0.8 | 0 | 0.0 | |
| Bowel atresia/all | 7 | 1.4 | 7 | 1.9 | 0 | 0.0 | |
| Intestinal atresia/stenosis | 2 | 0.4 | 2 | 0.5 | 0 | 0.0 | |
| Anorectal atresia/stenosis | 5 | 1.0 | 5 | 1.3 | 0 | 0.0 | |
| Diaphragmatic hernia | 4 | 0.8 | 3 | 0.8 | 1 | 0.7 | |
| Sacral agenesis or caudal dysplasia | 5 | 1.0 | 3 | 0.8 | 2 | 1.4 | |
| Omphalocele | 3 | 0.6 | 3 | 0.8 | 0 | 0.0 | |
| Hypospadias second/third degree | 1 | 0.2 | 1 | 0.3 | 0 | 0.0 | |
| Bilateral renal agenesis or hypoplasia | 2 | 0.4 | 1 | 0.3 | 1 | 0.7 | |
| Cloacalextrophy | 2 | 0.4 | 2 | 0.5 | 0 | 0.0 | |
| Biliary atresia | 2 | 0.4 | 2 | 0.5 | 0 | 0.0 | |
| Transverse limb deficiency | 1 | 0.2 | 0 | 0.0 | 1 | 0.7 | |
| Intercalary limb deficiency | 1 | 0.2 | 0 | 0.0 | 1 | 0.7 | |
ASD, atrial septal defect; AV, atrioventricular; AVCD (AVSD), atrioventricular canal defect (atrioventricularseptal defect); DIRV, DILV, double inlet right ventricle, double inlet left ventricle; IVC, inferior vena cava; NOS, not otherwise specified; NTD, neural tube defect; OS, other specified; SVC, superior vena cava; T/PAPVR, totally/partially anomalous pulmonary venous return; TGA, transposition of the great arteries; TOF, tetralogy of Fallot; VSD, ventricular septal defect.
For congenital heart defects, significance is indicated by two asterisks for <0.01, three for 0.001.
For all extracardiacdefects, the Chi-square test, P-value was 0.3207, not significant; we did not calculate this for individual defect types because of small numbers.
For Heterotaxy or situs inversus totalis, there were no cases of encephalocele, anophthalmos/microphthalmos, cataracts, choanal atresia, duodenal atresia/stenosis, gastroschisis, or bladder exstrophy.