Table 1.
Fetal chromosomal anomalies in the study population
| Chromosomal anomaly | Total |
Diagnoses |
Outcome |
||||
|---|---|---|---|---|---|---|---|
| 11–13 weeks | 18–22 weeks | >22 weeks | TOP | IUD | live birth | ||
| Trisomy 21 | 38 (46.9) | 28 (73.7) | 8 (21.1) | 2 (5.2) | 32 (84.2) | 1 (2.6) | 5 (13.2) |
| Trisomy 18 | 11 (l3.6) | 11 (100) | - | - | 11 (100) | - | - |
| Trisomy 13 | 6 (7.4) | 6 (100) | - | - | 6 (100) | - | - |
| Turner syndrome (45X0)a | 5 (6.2) | 3 (60) | - | 2 (40)a | 3 (60) | - | 2 (40)a |
| Triploidy | 5 (6.2) | 5 (100) | - | - | 4 (80) | 1 (20) | - |
| Microscopic aberrationsb | 15 (18.5) | 9 (60) | 5 (33.3) | 1 (6.7) | 4 (26.7) | 3 (20) | 8 (53.3) |
| Unknown | 1 (1.2) | 1 (64.3) | - | - | 1 (100) | - | - |
| Total | 81 | 63 (77.7) | 13 (16) | 5 (6.2) | 59 (75.6) | 5 (6.4) | 14 (17.9) |
Values are presented as n (%). IUD, intrauterine death; TOP, termination of pregnancy.
a
Two patients with mosaic 45X0.
b
Including: gain 16p13.11p12.3 (n = 1), gain 22q11.2 (n = 2), (1–22) x2 (XY) x1 (n = 1), 4q del (n = 1), LMX1B mutation (n = 1), del 22q11.2 (n = 2), del 2q37 (n = 1), gain 1q21.1 (n = 1), q5 del (n = 1), trans 9–13 (n = 1), q13 del (n = 1), q2 duplication (n = 1), 3q2 del (n = 1).