18.05.12 Cytogenetics of miscarriage Flashcards
What is the estimated % of conceptions that fail to implant? are lost following transient implantation??
30% fail to implant
30% lost following transient implantation
What is the estimated % of 3 day embryos that are abnormal?
50%
How is miscarriage defined?
spontaneous end of a at a stage where the or fetus is incapable of surviving independently, generally defined in humans at prior to 24 weeks of . Miscarriage is the most common complication of early pregnancy.
What % of foetuses are identified as abnormal in the first trimester? What % of these pregnancies will miscarry?
10% abnormal
10-15% SA, usually when placenta takes over nourishment and foetus is recognised as abnormal
50% of these will be chromosomally abnormal (60% trisomy)
What are the most common chromosomal abnormalities detected in first trimester pregnancy loss?
+16 (1% of all conceptions, 30% of all trisomies) arising from maternal non-disjunction, 100% inviable if full trisomy and about 10% of mosaics can get to second trimester.
+22 (10% of trisomies),
+21 (9%), +15 (7%), 90% due to maternal meiosis errors
+13 (6%), maternal meiosis I, 9/10 spontaneously aborting. Can occur as Robertsonians however familial inheritance of these is rare.
+2 (5%)
+18 (5%), ~100% due to maternal meiosis II errors
45,X (20% of all abns), triploidy (15% of all abns)
In POCs from spontaenous miscarriage, what % are autosomal trisomies? 45,X? triploidy?
60% trisomy
20% 45,X
15% trisomy
What are the most common trisomies identified in pregnancy loss?
T16 (30%)
T22 (10%)
T21 (9%)
T13 (6%)
T2 (5%)
T18 (5%)
What is the % miscarriage rate in the second trimester and the % abnormality rate of these miscarriages?
2-5% miscarriage
20% abnormality rate
Which chromosome abnormalities are more frequently detected in second trimester miscarriages?
50% of second trimester losses may have a chromosome abnormality. Usually the viable trisomies
T21 (63%)
T18 (23%)
T13 (13%)
Other structural rearrangements
What is the % pregnancy loss in the third trimester?
~0.5%
What fraction of pregnancy loss in the third trimester has an underlying chromosome abnormality? What is the most common detected?
~5% Most common is T18 XO and tetraploid rarer Structural abnormaltiies and other sex chr abnormalities more frequent T21 (32%) T18 (51%) T13 (17%)
What % of T21 pregnancies miscarry?
80%
What % of T16 pregnancies miscarry?
100% (non-mosaic)
What % of XO pregnancies miscarry?
> 95-99%
What % of triploid and tetraploid pregnancies miscarry?
Almost 100%