Table 4.
Pooled data from all fetuses presenting 1q21.1 microdeletion and microduplication.
| CNVs | 1q21.1 microdeletion | 1q21.1 microduplication | ||
|---|---|---|---|---|
| Previous reports | Our study | Previous reports | Our study | |
| Age (y) | 29 (26–34) | 29 (18–42) | 28 (23–32) | 33 (23–45) |
| Gestational age (w) | 19 (13–25) | 20 (16–29) | 21 (11–27) | 21 (17–28) |
| Ultrasound findings | ||||
| Cardiovascular abnormalities | 2/10 | 1/11 | 5/10 | 2/15 |
| Increased NT | 2/10 | 3/11 | 2/10 | 2/15 |
| Anomalies of the urinary system | 4/10 | 2/10 | ||
| Nasal bone dysplasia | 2/10 | 3/15 | ||
| Skeletal dysplasia | 1/10 | 1/10 | ||
| Nervous system abnormalities | 1/10 | 1/11 | ||
| Oligohydramnios | 2/10 | 2/10 | ||
| Cerebral ventriculomegaly | 2/15 | |||
| Fetal growth restriction | 1/11 | |||
| Aberrant right subclavian artery | 1/11 | |||
| Ventricular apical thin point | 1/11 | |||
| Single umbilical artery | 1/10 | |||
| Abdominal abnormalities | 1/10 | |||
CNVs, copy number variants; w, weeks; y, years.