Table 2 Structural abnormalities for T18 and T13 cohorts
Trisomy 18 (N = 46) | Trisomy 13 (N = 24) | |
|---|---|---|
Cardiac | ||
Ventricular septal defect | 16 (35%) | 5 (21%) |
Transposition of Great Arteries | 1 (2%) | 2 (8%) |
Patent ductus arteriosus | 1 (2%) | 1 (4%) |
Cerebral | ||
Holoprosencephaly | 0 | 7 (29%) |
Cerebral ventriculomegaly | 4 (9%) | 3 (13%) |
Microcephaly | 1 (2%) | 3 (13%) |
Dandy Walker variant | 1 (2%) | 2 (8%) |
Structural | ||
Cleft lip/palate | 4 (9%) | 11 (46%) |
Talipes/rockerbottom feet | 10 (22%) | 6 (25%) |
Clenched hands | 9 (20%) | 1 (4%) |
Polydactyly | 0 | 5 (21%) |
Low set ears | 2 (4%) | 4 (17%) |
Short long bones | 4 (9%) | 0 |
Overlapping fingers | 3 (7%) | 1 (4%) |
Micrognathia | 3 (7%) | 0 |
Ocular hypotelorism | 1 (2%) | 2 (8%) |
Syndactyly | 2 (4%) | 0 |
Clinodactyly | 1 (2%) | 1 (4%) |
Prominent forehead | 1 (2%) | 1 (4%) |
Gastrointestinal | ||
Small/absent stomach | 6 (13%) | 2 (8%) |
Omphalocele | 6 (13%) | 0 |
Echogenic bowel | 1 (2%) | 3 (13%) |
Umbilical herniation | 1 (2%) | 1 (4%) |
Respiratory | ||
Pleural effusion | 4 (9%) | 0 |
Diaphragmatic hernia | 4 (9%) | 0 |
Renal | ||
Enlarged/cystic kidneys | 4 (9%) | 5 (21%) |