Table 1.
Results of GDA on spontaneously discharged POC
| Case | Maternal age(years) | Gestational weeks | Position of copy-number changes | Estimated karyotype (gendera) | |
|---|---|---|---|---|---|
| Gain | Loss | ||||
| 1 | 37 | 6 | 22q11.1q11.22, 22q13.31 | – | Trisomy 22 (F) |
| 2 | 33 | 5 | – | 1p36.33p36.32 | 1p36 deletion (M) |
| 3 | 38 | 5 | – | – | Normal (F) |
| 4 | 37 | 6 | – | – | Normal (F) |
| 5 | 37 | 6 | 11p13p12, 11q25 | – | Trisomy 11 (M) |
| 6 | 36 | 5 | 16p13.3, 16q24.3 | – | Trisomy 16 (F) |
| 7 | 33 | 6 | – | 21q22.13q22.2, 21q22.3 | Monosomy 21 (M) |
| 8 | 36 | 5 | – | – | Normal (F) |
| 9 | 37 | 5 | 22q11.1q11.21, 22q13.31q13.32 | – | Trisomy 22 (F) |
| 10 | 36 | 5 | 2p25.3, 2p11.2, 2q11.1q11.2, 2q22.3, 2q37.3 | – | Trisomy 2 (M) |
| 11 | 39 | 5 | 15q11.2q12, 15q24.1, 15q26.3 | – | Trisomy 15 (M)b |
| 12 | 40 | 6 | – | 21q11.2, 21q21.3, 21q22.13q22.2, 21q22.3 | Monosomy 21 (M) |
| 13 | 39 | 8 | 15q11.2q13.1, 15q24.1q24.2, 15q26.3 | – | Trisomy 15 (M) |
| 14 | 29 | 9 | – | – | Normal (M) |
| 15 | 28 | 7 | – | – | Normal (M)b |
aEstimated gender of POC; M = male, F = female. bCases 11 and 15 showed unsatisfactory signals on X/Y regions, suggesting to be mosaicism of XX and XY resulted from contamination with maternal DNA or triploidy as 70,XXY, + 15, 69,XXY, respectively. Two women had undergone miscarriage twice during this study and provided both miscarriage specimens: Cases 1/5 and Cases 2/7. Cases 1–6 were analyzed by GDA Ver. 2 (550BACs), Cases 7–9 by GDA Ver. 3 (660BACs) and Cases 10–15 by GD-700 (712BACs)