Patient characteristics
| Demographics . | Infants who received a transplant . | Infants enrolled . |
|---|---|---|
| n | 44 | 54 |
| Sex, no. | ||
| Male | 26 | 32 |
| Female | 18 | 22 |
| Race, no. | ||
| White | 32 | 40 |
| Black | 9 | 10 |
| Asian | 3 | 4 |
| Hispanic ethnicity, no. | 8 | 10 |
| Median age at time of consent, mo (range) | 3 (0.8-12.6) | 2.3 (0.8-12.6) |
| Genetic or syndromic associations, no./total (%) | ||
| 22q11 hemizygosity | 21/44 (48) | 28/54 (52) |
| CHARGE | 11/44 (25) | 14/54 (26) |
| Infant of diabetic mother | 8/44 (18) | 8/54 (15) |
| Ectodermal dysplasia | 1/44 (2) | 1/54 (2) |
| No genetic or syndromic associations,* no./total (%) | 3/44 (7) | 3/54 (6) |
| Type of complete DiGeorge anomaly, no./total (%) | ||
| Typical† | 30/44 (68) | 37/54 (69) |
| Atypical (with rash and lymphadenopathy) | 12/44 (32) | 17/54 (31) |
| Other clinical conditions, no./total (%) | ||
| Hypocalcemia requiring supplementation | 36/44 (82) | 44/54 (81) |
| Heart defect requiring surgery‡ | 22/44 (50) | 31/54 (57) |
| Conotruncal heart defects | ||
| In all subjects | 12/44 (27) | 17/54 (31) |
| In subjects with 22q11 hemizygosity | 8/21 (38) | 13/28 (46) |
| In subjects without 22q11 hemizygosity | 4/23 (17) | 4/26 (15) |
| Demographics . | Infants who received a transplant . | Infants enrolled . |
|---|---|---|
| n | 44 | 54 |
| Sex, no. | ||
| Male | 26 | 32 |
| Female | 18 | 22 |
| Race, no. | ||
| White | 32 | 40 |
| Black | 9 | 10 |
| Asian | 3 | 4 |
| Hispanic ethnicity, no. | 8 | 10 |
| Median age at time of consent, mo (range) | 3 (0.8-12.6) | 2.3 (0.8-12.6) |
| Genetic or syndromic associations, no./total (%) | ||
| 22q11 hemizygosity | 21/44 (48) | 28/54 (52) |
| CHARGE | 11/44 (25) | 14/54 (26) |
| Infant of diabetic mother | 8/44 (18) | 8/54 (15) |
| Ectodermal dysplasia | 1/44 (2) | 1/54 (2) |
| No genetic or syndromic associations,* no./total (%) | 3/44 (7) | 3/54 (6) |
| Type of complete DiGeorge anomaly, no./total (%) | ||
| Typical† | 30/44 (68) | 37/54 (69) |
| Atypical (with rash and lymphadenopathy) | 12/44 (32) | 17/54 (31) |
| Other clinical conditions, no./total (%) | ||
| Hypocalcemia requiring supplementation | 36/44 (82) | 44/54 (81) |
| Heart defect requiring surgery‡ | 22/44 (50) | 31/54 (57) |
| Conotruncal heart defects | ||
| In all subjects | 12/44 (27) | 17/54 (31) |
| In subjects with 22q11 hemizygosity | 8/21 (38) | 13/28 (46) |
| In subjects without 22q11 hemizygosity | 4/23 (17) | 4/26 (15) |
The diagnosis in these cases was made based on cardiac, parathyroid, and T-cell findings.
One of these infants presented with graft-versus-host disease from a blood transfusion.
Of 31 infants requiring heart surgery, 17 had conotruncal defects as follows: 3 with truncus arteriosus, 3 with interrupted aortic arch type B, 2 with both truncus arteriosus and interrupted aortic arch type B, 8 with tetralogy of Fallot, and 1 with a conoventricular ventricular septal defect (VSD). Of the 31 infants requiring heart surgery, the 14 non-conotruncal defects included 2 patent ductus arteriosus (PDAs), 1 PDA with atrial septal defect (ASD), 1 PDA with VSD, 1 PDA with a vascular ring, 1 AV, 1 vascular ring, 1 AV canal with pulmonary atresia, 2 VSDs, 1 VSD with pulmonary atresia, 1 VSD with a vascular ring, 1 VSD with an ASD, and 1 VSD with a coarctation.