Table 4. The results of prenatal diagnosis in the AMA women who selected both karyotype analysis and CMA.
| Group | Classification | Simple AMA (n=607) | AMA combined with other indications (n=96) | |||
|---|---|---|---|---|---|---|
| Number | Results | Number | Results | |||
| K+C+ | Number abnormalities | 6 | T21 (n=5); 47,XXY (n=1) | 10 | T21 (n=6); T18 (n=1); 47,XXY (n=3) | |
| Structural abnormalities | 2 | 46,XN,add10(q26); 46,XX,t(2;7)(q13;p22) | 0 | – | ||
| K−C+ | Pathogenic | 3 | Xp22.31dup 1.68M; Yp11.2q11.23 dup18.72M; Xp22.33p22.31 loss 6.28 M | 1 | 17q12loss1.5M | |
| Like pathogenic | 6 | 12q24.33 dup0.5M; 18q21.32q21.33 loss 2.4M; LOH; Xq27.1 dup 1.32M; 16p13.11p12.3 dup 2.91 M | 0 | – | ||
| No subclassification | 25 | – | 3 | – | ||
| Like benign | 3 | – | 1 | – | ||
| Benign | 2 | – | 2 | – | ||
| K+C− | Number abnormalities | 2 | 47,XN,+21[22]/46,XN[10]; 47,XY,+20/46,XY[44] | 0 | ||
| Structural abnormalities | 5 | 46,XN,add(4)(q12); 46,XY,t(5;16)(q15;p10)[3]/46,XY[47]; 46,XY,add(15)(p13); polymorphism 2 | 3 | 45,XX,rob(15;22)(q10;q10); 45,XX,rob(13;14)(q10;q10); 46,XY,9qh+,add(15)(p13) | ||
| K−C− | – | 553 | – | 76 | – | |
K+C+, both results of karyotype analysis and CMA were positive. K−C+, the results of CMA were positive, while karyotype analysis were negative. K+C−, the results of were karyotype analysis positive, while CMA were negative. K−C−, both results of karyotype analysis and CMA were negative. CMA, chromosomal microarray; AMA, advanced maternal age.