Table.
Prenatal diagnosis (%) |
Late detection (%) |
|||||||
---|---|---|---|---|---|---|---|---|
Location, study years | Utah, 1997–200722 | Multiple sites, 1998–200524 | Northern California 2004–200525 |
Massachusetts, 2004–200926 |
Southern California, 2005–201023 |
Multiple sites, 1998–200931 |
Florida, 1998–200733 | Massachusetts, 2004–200926 |
Definition of prenatal diagnosis/late detection |
Abnormal fetal ultrasound |
Maternal report of abnormal fetal ultrasound/ echocardiogram |
Parental report of prenatal diagnosis (+terminations) |
Documented in maternal and/or infant medical record |
Abnormal fetal ultrasound/ echocardiogram |
Fetal echocardiogram >3 days of birth |
Diagnosis after birth/transfer hospital discharge |
Diagnosis after birth/ transfer hospital discharge |
Primary CCHD screening targets | ||||||||
Dextro- transposition of the great arteries |
13a | 17 | 17 (19)b | 60 | 71c | 14 | 10 | 0 |
Hypoplastic left heart syndrome |
70 | 53 | 56 (61) | 88 | 100d | 13 | 12 | 0 |
Pulmonary atresia | 26 | 44 | 43 (50)e | 77 | – | 8 | 23 | 0 |
Total anomalous pulmonary venous return |
6 | 1 | 0 (0) | 25 | 0 | 41 | 40 | 23 |
Tetralogy of Fallot | 26f | 18 | 18 (31) | 58 | 69 | 28 | 25 | 11 |
Tricuspid atresia | 52 | – | 25 (25)g | 89 | 100 | 12 | 16 | 0 |
Truncus arteriosus | 24 | – | 50 (50) | 54 | – | 31 | 32 | 8 |
Secondary CCHD screening targets | ||||||||
Coarctation of the aorta |
19 | 11 | – | 37 | 33 | 62 | 37h | 30 |
Double-outlet right ventricle |
89i | – | 18 (25) | 83 | 100d | 31 | 29 | 2 |
Ebstein anomaly | 43 | 22 | – | 80 | – | 21 | 13 | 0 |
Single ventricle complex |
100j | 56 (64) | 92 | 100d | 22 | 25 | 0 |
d-Transposition of the great arteries (d-TGA) with intact ventricular septum.
d- and l-Transposition of the great arteries.
Transposition of the great arteries.
Includes single ventricle, double outlet right ventricle, and hypoplastic left heart syndrome.
Pulmonary stenosis or atresia with intact ventricular septum.
Tetralogy of Fallot with pulmonary stenosis.
Tricuspid valve anomalies.
Coarctation/hypoplasia of the aortic arch.
Estimate for double outlet right ventricle (DORV) not otherwise specified; for DORV with normal arteries: 71%; for DORV with transposition of the great arteries: 58%.
Single ventricle, not otherwise specified.