Table 1. Comparative profile of placental and parental autosomal CNVs.
Parental genome |
Placental genome |
||||||
---|---|---|---|---|---|---|---|
RPL cases | Controls | RPL Pregnancy loss | RPL Live birth at term | Normal 1st trimester pregnancy | Normal Term pregnancy | ||
No of samples | 25 | 24 | 10 | 3 | 9 | 8 | |
No of CNVs per sample | all | 7.0 (3–28) | 10.0 (2–15) | 9.0 (5–22)ab | 7.0 (5–12)b | 15.0 (4–39) | 31.0 (17–94) |
dupl | 2.0 (0–17) | 2.0 (0–6) | 2.5 (1–7)ab | 3.0 (1–5)ab | 8.0 (2–26) | 25.5 (7–52) | |
del | 6.0 (1–13) | 7.0 (1–12) | 6.0 (2–20) | 4.0 (4–7) | 8.0 (1–15) | 12.5 (4–56) | |
Cumulative span of all CNVs per sample, Mb | all | 0.7 (0.0–2.8) | 0.6 (0.0–1.8) | 0.6 (0.3–3.5)b | 0.9 (0.3–1.0)ab | 1.8 (0.2–4.5) | 4.4 (0.8–16.8) |
dupl | 0.4 (0.0–2.0) | 0.2 (0.0–1.6) | 0.3 (0.0–0.5)ab | 0.3 (0.3–0.3)ab | 1.7 (0.1–3.5) | 3.5 (0.8–5.8) | |
del | 0.3 (0.0–1.4) | 0.3 (0.0–0.8) | 0.3 (0.1–3.2) | 0.7 (0.0–0.7) | 0.3 (0.3–1.7) | 1.3 (0.1–11.0) |
Data are given as median (range). Group ‘Controls’ for the parental genome analysis consists of couples with normal term pregnancies and women who had undergone elective termination of pregnancy (ETP). Parental and placental datasets for ETP and term pregnancy controls have been derived from9. P-values for the differences among the groups were calculated by Welch two-sample t-test/Wilcoxon rank sum test. Statistically significant result (P < 0.05) compared to a1st trimester; bterm placental samples. All, pooled duplication and deletion CNVs; dupl, duplication; del, deletion; RPL, recurrent pregnancy loss.