Page 58 - ESHRE2019

Distribution of type 2 and 3 CPM
57 type 2 and 3 CPM (0.41%) (type 2: 64.9%; type 3: 35.1%)
10 9 8 7 6 5 4 3 2 1 0
Type 2CPM
Type 3 CPM
Chromosomal abnormalities observed in 57 confined placental mosaicisms
Aneuploidies: 89.5%; structural abnormalities: 10.5% Type 3 CPM implicated chromosomes 16 and 22 ++
1
Uniparental disomy
UPD testing for 19 cases (19/57 = 33,3% of type 2 and 3 CPM)
CPM type
Patient Chromosome
2 2 2 2 2 2
65 87 97
Birth weight (percentile) Pregnancy outcome
Maternal uniparental Maternal uniparental Maternal uniparental
heterodisomy
heterodisomy
heterodisomy < 3rd
UPD
Absent Absent Absent Absent Absent Absent
< 10th Normal at delivery
10 29 38
7 15 16
> 10th _ N/A > 10th N/A
Normal at delivery SA at 17 W A Normal at delivery Normal at delivery Normal at delivery
3
3
3
3
3
3
3
3
3
3
3
3
3
CPM = confined placental mosaicism; IUFD = intraunterine fetal death; N/A = data not available; SA = spontaneous abortion; TOP = termination of pregnancy; UPD = uniparental disomy; W A = week of amenorrhea.
Type 2 CPM: no UPD (0/6)
Type 3 CPM: 4/13 = 30.8%
- 1 maternal UPD of chromosome 15 (Σ Prader-Willi) - No influence of UPD of chromosome 16
7 11 12 16 21 30 31 32 33 34 35 36 37
6 Absent 7 Absent 7 Absent
< 3rd < 3rd > 10th
< 10th _
< 3rd < 10th < 3rd _
Normal at delivery Normal at delivery Normal at delivery
8,16 Absent
N/A N/A
9 15 16 16 16 16 16 16 16
Absent
Maternal uniparental isodisomy Absent
Absent
Normal at delivery
TOP (Prader-W illi syndrome) Normal at delivery Normal at delivery Normal at delivery IUFD at 35 W A Normal at delivery Death at 4 weeks of life Normal at delivery
Absent Absent
< 3rd < 3rd
53
56
Number of cases
+2 +2p-
+5 +6
+7 +8
+9 +10
+12 +15
+16 +17
+18 +20
+21 +22
+12p +mar
+X
-X
+Y