Table 2.
Genetic abnormalities in 64 specimens of pregnancy loss determined by chromosomal microarray analysis, according to developmental stage at time of pregnancy loss
|
Developmental stage |
|||
|---|---|---|---|
| Abnormality | Pre-embryonic (n = 11) | Embryonic (n = 26) | Fetal (n = 27) |
| Overall prevalence of abnormalities* | 1 (9.1) | 18 (69.2) | 9 (33.3) |
| Any aneuploidy | 0 | 17 (65.4) | 7 (25.9) |
| Complex rearrangement chr7 | 1 (9.1) | 0 | 0 |
| Autosomal trisomy | 0 | 10 (38.4) | 4 (14.8) |
| Trisomy 8 | 0 | 2 (7.7) | 0 |
| Trisomy 9 | 0 | 1 (3.8) | 0 |
| Trisomy 13 | 0 | 0 | 2 (7.4) |
| Trisomy 15 | 0 | 2 (7.7) | 0 |
| Trisomy 16 | 0 | 1 (3.8)† | 0 |
| Trisomy 18 | 0 | 0 | 2 (7.4) |
| Trisomy 21 | 0 | 1 (3.8) | 0 |
| Trisomy 22 | 0 | 3 (11.5) | 0 |
| Sex chromosome abnormality | 0 | 4 (15.4) | 1 (3.7) |
| 45,X | 0 | 4 (15.4) | 0 |
| 47,XXX | 0 | 0 | 1 (3.7) |
| Triploidy | 0 | 3 (11.5) | 2 (7.4) |
| 69,XXY/70,XXY,+18 | 0 | 1 (3.8)† | 0 |
| 69,XXX | 0 | 2 (7.7) | 2 (7.4) |
Data are given as n (%).
*
Includes variants of unknown significance.
†
Includes one with mosaicism. chr, chromosome.