Association between congenital abnormalities and acute leukemia among children with Down syndrome
| . | Controls . | Combined cases . | . | ALL . | . | AML . | . | |||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| . | n (%) . | n (%) . | OR* (95% CI) . | n (%) . | OR* (95% CI) . | n (%) . | OR* (95% CI) . | |||||||
| At least one abnormality | ||||||||||||||
| No | 41 (24%) | 48 (31%) | 1.00 | 31 (32%) | 1.00 | 17 (28%) | 1.00 | |||||||
| Yes | 132 (76%) | 109 (69%) | 0.74 (0.45-1.23) | 66 (68%) | 0.67 (0.38-1.20) | 43 (72%) | 1.03 (0.49-2.16) | |||||||
| Number of abnormalities† | ||||||||||||||
| 0 | 41 (24%) | 48 (31%) | 1.00 | 31 (32%) | 1.00 | 17 (28%) | 1.00 | |||||||
| 1 | 74 (43%) | 56 (36%) | 0.66 (0.38-1.16) | 34 (35%) | 0.60 (0.31-1.14) | 22 (37%) | 0.92 (0.40-2.12) | |||||||
| ≥2 | 58 (34%) | 53 (34%) | 0.84 (0.47-1.51) | 32 (33%) | 0.78 (0.40-1.53) | 21 (35%) | 1.15 (0.50-2.67) | |||||||
| Ptrend = 0.55 | Ptrend = 0.38 | Ptrend = 0.63 | ||||||||||||
| Microcephaly | ||||||||||||||
| No | 165 (95%) | 151 (96%) | 1.00 | 93 (96%) | 1.00 | 58 (97%) | 1.00 | |||||||
| Yes | 8 (5%) | 6 (4%) | 0.73 (0.24-2.22) | 4 (4%) | 0.99 (0.28-3.50) | 2 (3%) | 0.50 (0.09-2.70) | |||||||
| Cleft lip or palate | ||||||||||||||
| No | 171 (99%) | 156 (99%) | 1.00 | 97 (100%) | 59 (98%) | 1.00 | ||||||||
| Yes | 2 (1%) | 1 (1%) | 0.60 (0.05-6.86) | 0 (0%) | 1 (2%) | 13.00 (0.65-262.16) | ||||||||
| Spina bifida/other spinal defect | ||||||||||||||
| No | 172 (99%) | 157 (100%) | 97 (100%) | 60 (100%) | ||||||||||
| Yes | 1 (1%) | 0 (0%) | 0 (0%) | 0 (0%) | ||||||||||
| Hemihypertrophy | ||||||||||||||
| No | 172 (99%) | 156 (99%) | 1.00 | 96 (99%) | 1.00 | 60 (100%) | ||||||||
| Yes | 1 (1%) | 1 (1%) | 1.37 (0.08-22.53) | 1 (1%) | 1.78 (0.11-30.11) | 0 (0%) | ||||||||
| Heart defect | ||||||||||||||
| No | 74 (43%) | 69 (44%) | 1.00 | 47 (48%) | 1.00 | 22 (37%) | 1.00 | |||||||
| Yes | 99 (57%) | 88 (56%) | 0.97 (0.62-1.53) | 50 (52%) | 0.83 (0.49-1.40) | 38 (63%) | 1.43 (0.73-2.81) | |||||||
| Pancreas/digestive tract defect | ||||||||||||||
| No | 155 (90%) | 145 (92%) | 1.00 | 89 (92%) | 1.00 | 56 (93%) | 1.00 | |||||||
| Yes | 18 (10%) | 12 (8%) | 0.82 (0.37-1.79) | 8 (8%) | 0.86 (0.35-2.11) | 4 (7%) | 0.73 (0.22-2.44) | |||||||
| Kidney/bladder/sex organ defect | ||||||||||||||
| No | 158 (91%) | 147 (94%) | 1.00 | 93 (96%) | 1.00 | 54 (90%) | 1.00 | |||||||
| Yes | 15 (9%) | 10 (6%) | 0.73 (0.31-1.72) | 4 (4%) | 0.45 (0.14-1.45) | 6 (10%) | 1.37 (0.44-4.28) | |||||||
| Hernia | ||||||||||||||
| No | 149 (86%) | 130 (83%) | 1.00 | 79 (81%) | 1.00 | 51 (85%) | 1.00 | |||||||
| Yes | 24 (14%) | 27 (17%) | 1.37 (0.74-2.54) | 18 (19%) | 1.56 (0.78-3.11) | 9 (15%) | 1.25 (0.50-3.13) | |||||||
| Deafness/hearing impairment | ||||||||||||||
| No | 159 (92%) | 148 (94%) | 1.00 | 93 (96%) | 1.00 | 55 (92%) | 1.00 | |||||||
| Yes | 14 (8%) | 9 (6%) | 0.61 (0.25-1.50) | 4 (4%) | 0.44 (0.13-1.43) | 5 (8%) | 0.88 (0.28-2.80) | |||||||
| Blindness/vision problems | ||||||||||||||
| No | 151 (87%) | 142 (90%) | 1.00 | 86 (89%) | 1.00 | 56 (93%) | 1.00 | |||||||
| Yes | 22 (13%) | 15 (10%) | 0.78 (0.38-1.63) | 11 (11%) | 0.83 (0.36-1.88) | 4 (7%) | 0.73 (0.21-2.56) | |||||||
| Other chromosomal abnormalities‡ | ||||||||||||||
| No | 171 (99%) | 156 (99%) | 1.00 | 96 (99%) | 1.00 | 60 (100%) | ||||||||
| Yes | 2 (1%) | 1 (1%) | 0.57 (0.05-6.66) | 1 (1%) | 1.19 (0.10-14.27) | 0 (0%) | ||||||||
| Large/multiple birthmarks | ||||||||||||||
| No | 171 (99%) | 150 (96%) | 1.00 | 93 (96%) | 1.00 | 57 (95%) | 1.00 | |||||||
| Yes | 2 (1%) | 7 (4%) | 2.60 (0.51-13.35) | 4 (4%) | 2.29 (0.38-13.93) | 3 (5%) | 4.39 (0.48-39.84) | |||||||
| . | Controls . | Combined cases . | . | ALL . | . | AML . | . | |||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| . | n (%) . | n (%) . | OR* (95% CI) . | n (%) . | OR* (95% CI) . | n (%) . | OR* (95% CI) . | |||||||
| At least one abnormality | ||||||||||||||
| No | 41 (24%) | 48 (31%) | 1.00 | 31 (32%) | 1.00 | 17 (28%) | 1.00 | |||||||
| Yes | 132 (76%) | 109 (69%) | 0.74 (0.45-1.23) | 66 (68%) | 0.67 (0.38-1.20) | 43 (72%) | 1.03 (0.49-2.16) | |||||||
| Number of abnormalities† | ||||||||||||||
| 0 | 41 (24%) | 48 (31%) | 1.00 | 31 (32%) | 1.00 | 17 (28%) | 1.00 | |||||||
| 1 | 74 (43%) | 56 (36%) | 0.66 (0.38-1.16) | 34 (35%) | 0.60 (0.31-1.14) | 22 (37%) | 0.92 (0.40-2.12) | |||||||
| ≥2 | 58 (34%) | 53 (34%) | 0.84 (0.47-1.51) | 32 (33%) | 0.78 (0.40-1.53) | 21 (35%) | 1.15 (0.50-2.67) | |||||||
| Ptrend = 0.55 | Ptrend = 0.38 | Ptrend = 0.63 | ||||||||||||
| Microcephaly | ||||||||||||||
| No | 165 (95%) | 151 (96%) | 1.00 | 93 (96%) | 1.00 | 58 (97%) | 1.00 | |||||||
| Yes | 8 (5%) | 6 (4%) | 0.73 (0.24-2.22) | 4 (4%) | 0.99 (0.28-3.50) | 2 (3%) | 0.50 (0.09-2.70) | |||||||
| Cleft lip or palate | ||||||||||||||
| No | 171 (99%) | 156 (99%) | 1.00 | 97 (100%) | 59 (98%) | 1.00 | ||||||||
| Yes | 2 (1%) | 1 (1%) | 0.60 (0.05-6.86) | 0 (0%) | 1 (2%) | 13.00 (0.65-262.16) | ||||||||
| Spina bifida/other spinal defect | ||||||||||||||
| No | 172 (99%) | 157 (100%) | 97 (100%) | 60 (100%) | ||||||||||
| Yes | 1 (1%) | 0 (0%) | 0 (0%) | 0 (0%) | ||||||||||
| Hemihypertrophy | ||||||||||||||
| No | 172 (99%) | 156 (99%) | 1.00 | 96 (99%) | 1.00 | 60 (100%) | ||||||||
| Yes | 1 (1%) | 1 (1%) | 1.37 (0.08-22.53) | 1 (1%) | 1.78 (0.11-30.11) | 0 (0%) | ||||||||
| Heart defect | ||||||||||||||
| No | 74 (43%) | 69 (44%) | 1.00 | 47 (48%) | 1.00 | 22 (37%) | 1.00 | |||||||
| Yes | 99 (57%) | 88 (56%) | 0.97 (0.62-1.53) | 50 (52%) | 0.83 (0.49-1.40) | 38 (63%) | 1.43 (0.73-2.81) | |||||||
| Pancreas/digestive tract defect | ||||||||||||||
| No | 155 (90%) | 145 (92%) | 1.00 | 89 (92%) | 1.00 | 56 (93%) | 1.00 | |||||||
| Yes | 18 (10%) | 12 (8%) | 0.82 (0.37-1.79) | 8 (8%) | 0.86 (0.35-2.11) | 4 (7%) | 0.73 (0.22-2.44) | |||||||
| Kidney/bladder/sex organ defect | ||||||||||||||
| No | 158 (91%) | 147 (94%) | 1.00 | 93 (96%) | 1.00 | 54 (90%) | 1.00 | |||||||
| Yes | 15 (9%) | 10 (6%) | 0.73 (0.31-1.72) | 4 (4%) | 0.45 (0.14-1.45) | 6 (10%) | 1.37 (0.44-4.28) | |||||||
| Hernia | ||||||||||||||
| No | 149 (86%) | 130 (83%) | 1.00 | 79 (81%) | 1.00 | 51 (85%) | 1.00 | |||||||
| Yes | 24 (14%) | 27 (17%) | 1.37 (0.74-2.54) | 18 (19%) | 1.56 (0.78-3.11) | 9 (15%) | 1.25 (0.50-3.13) | |||||||
| Deafness/hearing impairment | ||||||||||||||
| No | 159 (92%) | 148 (94%) | 1.00 | 93 (96%) | 1.00 | 55 (92%) | 1.00 | |||||||
| Yes | 14 (8%) | 9 (6%) | 0.61 (0.25-1.50) | 4 (4%) | 0.44 (0.13-1.43) | 5 (8%) | 0.88 (0.28-2.80) | |||||||
| Blindness/vision problems | ||||||||||||||
| No | 151 (87%) | 142 (90%) | 1.00 | 86 (89%) | 1.00 | 56 (93%) | 1.00 | |||||||
| Yes | 22 (13%) | 15 (10%) | 0.78 (0.38-1.63) | 11 (11%) | 0.83 (0.36-1.88) | 4 (7%) | 0.73 (0.21-2.56) | |||||||
| Other chromosomal abnormalities‡ | ||||||||||||||
| No | 171 (99%) | 156 (99%) | 1.00 | 96 (99%) | 1.00 | 60 (100%) | ||||||||
| Yes | 2 (1%) | 1 (1%) | 0.57 (0.05-6.66) | 1 (1%) | 1.19 (0.10-14.27) | 0 (0%) | ||||||||
| Large/multiple birthmarks | ||||||||||||||
| No | 171 (99%) | 150 (96%) | 1.00 | 93 (96%) | 1.00 | 57 (95%) | 1.00 | |||||||
| Yes | 2 (1%) | 7 (4%) | 2.60 (0.51-13.35) | 4 (4%) | 2.29 (0.38-13.93) | 3 (5%) | 4.39 (0.48-39.84) | |||||||
Adjusted for child's reference age (continuous), maternal age (<35 versus ≥ 35 y), maternal race (white versus non-white), and maternal education (≤high school versus some post–high school versus college graduate).
Total count of birth defects within an individual (range, 0 ≤ number of birth defects ≤12).
For example, Turner's syndrome, Klinefelter's syndrome, trisomy 18, trisomy 13.