Table 2.
Patient demographics among those with a variant of uncertain significance result on prenatal microarray
| Category | Results |
|---|---|
| Maternal age, median (range) | 34 (17–45) |
| Race/ethnicity, n (%) | |
| White | 19 (34.5) |
| Asian | 13 (23.6) |
| Hispanic | 12 (21.8) |
| Black | 3 (5.5) |
| Other/unknown | 8 (14.5) |
| Number of fetuses, n (%) | |
| Singleton | 48 (87.3) |
| Twins | 7 (12.7) |
| Method of invasive testing, n (%) | |
| CVS | 20 (36.4) |
| Amniocentesis | 35 (63.6) |
| Indication for testing, n (%) | |
| AMA | 25 (45.5) |
| Ultrasound abnormalities | 22 (40.0) |
| Abnormal serum analytes | 14 (25.5) |
| Family history of genetic disorder | 12 (21.8) |
| Abnormal NIPT | 3 (5.5) |
| Other | 7 (12.7) |
| Ultrasound anomalies | |
| Normal | 21 (38.2) |
| Face/neck* | 10 (18.2) |
| Cardiac | 9 (16.4) |
| Fluid** | 8 (14.5) |
| Placental/cord*** | 5 (9.1) |
| Central nervous system | 4 (7.3) |
| Skeletal | 4 (7.3) |
| Growth restriction | 3 (5.5) |
| Pulmonary/thoracic | 2 (3.6) |
| Gastrointestinal/abdominal | 2 (3.6) |
| Genitourinary | 2 (3.6) |
| Hydrops | 1 (1.8) |
| Unknown | 3 (5.5) |
| Outcome, n (%) | |
| Full-term birth | 32 (58.2) |
| Termination of pregnancy | 9 (16.4) |
| Preterm birth | 7 (12.7) |
| Unknown | 7 (12.7) |
AMA, advanced maternal age; CVS, chorionic villous sampling; NIPT, noninvasive prenatal testing.
*
Includes enlarged nuchal translucency.
**
Includes polyhydramnios and oligohydramnios.
***
Includes single umbilical artery.