Table 4.
Yield of testing by cardiac lesion
| Lesion | n | Karyotype | Abn | 22q | Abn | CMA | Abn |
|---|---|---|---|---|---|---|---|
| APVR | 29 | 1 | 0 | 0 | 0 | 10 | 0 |
| AVSD | 97 | 39 | 33 (87%) | 1 | 0 | 12 | 3 (25%) |
| Complex | 60 | 25 | 5 (25%) | 21 | 0 | 29 | 6 (24%) |
| Conotruncal | 277 | 117 | 17 (14.5%) | 139 | 27 (19%) | 132 | 31 (23%) |
| Heterotaxy | 52 | 28 | 0 | 21 | 0 | 38 | 6 (16%) |
| LVOTO | 195 | 77 | 11 (14%) | 50 | 1 (2%) | 92 | 21 (23%) |
| RVOTO | 53 | 20 | 2 (10%) | 20 | 0 | 32 | 8 (25%) |
| Septal | 93 | 22 | 12 (55%) | 9 | 1 (11%) | 27 | 13 (48%) |
| Other | 35 | 11 | 1 (9%) | 5 | 0 | 14 | 3 (21%) |
| Total | 891 | 340 | 81 (24%) | 266 | 29 (11%) | 386 | 91 (24%) |
This table demonstrates the yield of testing by National Birth Defect Prevention Study cardiac lesion classification. Karyotypes were most often abnormal in the AVSD group, followed by the septal group. 22q testing was abnormal most commonly in patients with conotruncal lesions. There were no statistically significant differences in CMA yield based on cardiac lesion with one exception. Patients with septal lesions were significantly more likely (p = 0.0005) to have an abnormal microarray when compared to other groups
Abn abnormal, APVR anomalous pulmonary venous return, AVSD atrioventricular septal defect, CMA chromosomal microarray, LVOTO left ventricular outflow tract obstruction, RVOTO right ventricular outflow tract obstruction, 22q = 22q11.2 deletion Testing