Table 2. CMA results according to the indication for prenatal diagnosis.
|
No. Samples with a pathogenic CNV (%) |
|||||
|---|---|---|---|---|---|
| Indication | No. of Samples analyzed (%) | Detected by conventional karyotyping | Not detected by conventional karyotyping | Total | CMA detection rate (%) |
| Abnormal ultrasound findings | 95 (3.2) | 20 (76.9) | 6 (23.1) | 26 (27.4) | 6.3 |
| Advanced maternal age | 1118 (37.3) | 28 (82.4) | 6 (17.6) | 34 (3.0) | 0.5 |
| Parental anxiety | 1675 (55.8) | 17 (60.7) | 11 (39.3) | 28 (1.7) | 0.7 |
| Abnormal fetal karyotype | 25 (0.8) | 3 (75.0) | 1 (25.0) | 4 (16.0) | 4.0 |
| Abnormal maternal serum screening test | 29 (1.0) | 3 (100.0) | 0 (0.0) | 3 (10.3) | 0.0 |
| Family history of a genetic condition | 25 (0.8) | 0 (0.0) | 0 (0.0) | 0 (0.0) | 0.0 |
| Cell culture failure | 33 (1.1) | 0 (0.0) | 0 (0.0) | 0 (0.0) | 0.0 |
| High risk pregnancies (abnormal ultrasound findings+abnormal fetal karyotype) | 120 (4.0) | 23 (76.7) | 7 (23.3) | 30 (25.0) | 5.8 |
| Low risk pregnancies (advanced maternal age+ parental anxiety+abnormal maternal serum screening test+family history of a genetic condition+cell culture failure) | 2880 (96.0) | 48 (73.8) | 17 (26.2) | 65 (2.3) | 0.6 |
| Total | 3000 | 71 (74.7) | 24 (25.3) | 95 (3.2) | 0.8 |