Database of reproductive losses
QF-PCR results by trimester
| Trimester | Samples tested (n) | No abnormality detected (n) | Chromosomal abnormality detected (n) | Not evaluable (n) |
|---|---|---|---|---|
| 1st trimester | 10 | 4 | 5 | 1 |
| 2nd trimester | 53 | 51 | 1 | 1 |
| 3rd trimester | 12 | 12 | 0 | 0 |
| Total | 75 | 67 | 6 | 2 |
All samples were tested by QF-PCR (Devyser Extend v2 kit).
Chromosomal abnormalities detected — QF-PCR, by type
| Finding (QF-PCR) | 1st trimester | 2nd trimester | 3rd trimester | Total |
|---|---|---|---|---|
| Trisomy 21 (Down syndrome) | 1 | 1 | 0 | 2 |
| Triploidy (69,XXX) | 2 | 0 | 0 | 2 |
| Trisomy 16 | 1 | 0 | 0 | 1 |
| Monosomy X (Turner syndrome) | 1 | 0 | 0 | 1 |
| Total abnormalities | 5 | 1 | 0 | 6 |
Additional Genetic Analyses by Trimester (reflex testing beyond QF-PCR)
| Trimester | MLPA performed (n) | MLPA — findings | aCGH performed (n) | aCGH — findings |
|---|---|---|---|---|
| 1st trimester | 0 | — (not performed) | 0 | — (not performed) |
| 2nd trimester | 6 | No abnormality detected (6/6) | 10 | 3 variants identified: gain 2p25.3 — VUS, likely benign; deletion 16p12.2 — uncertain / likely pathogenic; duplication 7p15.2 (HOXA cluster) — benign variant. Remaining 7/10 no abnormality detected. |
| 3rd trimester | 0 | — (not performed) | 6 | No abnormality detected (6/6) |
| Total | 6 | 0 abnormal / 6 tested | 16 | 3 abnormal / 16 tested |
Notes
- Trimester is assigned from gestational age at loss (clinical estimate — ultrasound/CRL — where available, otherwise last menstrual period). Boundaries: 1st trimester up to 13+6 weeks, 2nd trimester 14+0–27+6 weeks, 3rd trimester from 28+0 weeks.
- "Not evaluable" (n=2): one 2nd-trimester sample where DNA analysis was not performed (prior amniocentesis on file was negative, DNA is stored), and one 1st-trimester sample where QF-PCR was repeatedly unsuccessful due to unsuitable FFPE material (potential for optimisation of the methods on FFPE tissues).
- One additional 2nd-trimester case had a documented chorionic-villus finding of trisomy 16q + monosomy 19 on the original prenatal sample (confined placental mosaicism); post-mortem QF-PCR and array-CGH on fetal tissue were both normal, so it is counted as "no abnormality detected" above and not among the array-CGH findings.
- Full per-sample detail (sample ID, trimester, and result at every test performed) can be obtained by contacting Petra Priščáková (petra.priscakova@fmed.uniba.sk).
