TABLE 2.
Details of concordant cases.
| Observed concordance | Case no. | cfDNA screening result | Fetal fraction (%) | Interventions prompted | Pregnancy outcome | Pregnancy complications | Newborn physical exam |
|---|---|---|---|---|---|---|---|
| Fetus (mosaic) | 1 | Trisomy 7 | 13 | TOP | Elective TOP | — | — |
| Fetus (mosaic) | 2 | Trisomy 10 | N/a | TOP | Elective TOP | — | — |
| Fetus | 3 | Trisomy 14 | N/a | Fetal anatomy scan | IUFD | — | — |
| Fetus (mosaic/UPD) | 4 | Trisomy 15 | N/a | TOP | Elective TOP | — | — |
| Fetus (mosaic) | 5 | Trisomy 16 | 5 | TOP | Elective TOP | — | — |
| Fetus (UPD) | 6 | Trisomy 16 | 9 | Alteration of pregnancy monitoring a | Liveborn b | Preeclampsia | FGR, prematurity, cleft palate |
| Fetus (mosaic) | 7 | Trisomy 16 | N/a | Alteration of pregnancy monitoring a | Unknown (lost to follow-up) | Unknown | Unknown |
| Fetus (mosaic) | 8 | Trisomy 16 | 9 | Alteration of pregnancy monitoring a | Unknown (lost to follow-up) | Unknown | Unknown |
| Fetus (mosaic) | 9 | Trisomy 20 | N/a | Alteration of pregnancy monitoring a | Liveborn c | None | Normal. Baby required breathing support at birth but was otherwise well |
| Fetus | 10 | Trisomy 22 | N/a | Other | IUFD | — | — |
| Placenta (mosaic) | 11 | Trisomy 8 | N/a | Alteration of pregnancy monitoring a | Liveborn d | Severe FGR | Normal |
| Placenta (mosaic) | 12 | Trisomy 10 | N/a | Alteration of pregnancy monitoring a | Unknown (lost to follow-up) | Unknown | Unknown |
| Placenta | 13 | Trisomy 15 | N/a | Alteration of pregnancy monitoring a | Elective TOP | Severe FGR | Hypospadias |
| Placenta (mosaic) | 14 | Trisomy 16 | N/a | Alteration of pregnancy monitoring a | Liveborn e | Preeclampsia | No information provided |
| Placenta (mosaic) | 15 | Trisomy 16 | 10 | — | Liveborn f | None | No information provided |
FGR, fetal growth restriction; IUFD, intrauterine fetal demise; N/a, not available; TOP, termination of pregnancy.
a
Monitoring for fetal growth and adverse pregnancy outcomes.
b
Induced premature birth (27–32 weeks).
c
Delivery at term (38–42 weeks).
d
Induced premature birth at 36 weeks due to FGR.
e
Induced premature birth at 34 weeks due to preeclampsia.
f
Spontaneous premature birth (33–37 weeks).