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Table 2 Detailed spectrum of genomic imbalances in products of conception

From: Application of chromosomal microarray analysis in products of miscarriage

Genomic imbalances ART NC Without APHs With APHs 13–19 + 6GWs <13GWs Total
A B
Single aneuploidy Autosomal trisomy 2 2 3 5 0 0 0 5 5
3 0 2 2 0 0 1 1 2
4 1 3 1 1 2 0 4 4
5 1 0 1 0 0 0 1 1
6 0 1 0 1 0 0 1 1
7 3 3 5 1 0 0 6 6
8 2 3 4 1 0 0 5 5
9 1 1 2 0 0 0 2 2
10 1 1 2 0 0 0 2 2
11 1 1 1 0 1 0 2 2
12 1 1 1 1 0 0 2 2
13 1 9 3 5 2 1 9 10
14 0 1 0 1 0 0 1 1
15 6 5 6 3 2 0 11 11
16a 15 18 19 4 10a 1 32 33
18 3 4 4 1 2 3 4 7
20 3 4 5 1 1 0 7 7
21 6 6 11 1 0 2 10 12
22 13 16 23 3 3 1 28 29
Other aneuploidy monosomy 21 3 1 4 0 0 0 4 4
monosomy X 13 13 17 3 6 5 21 26
XXY 0 1 0 0 1 0 1 1
CNV   CNV 7 9 11 2 3 1 15 16
Multiple aneuploidy   Double trisomy 7 3 7 2 1 0 10 10
  Trisomy 22 with monosomy X 2 0 2 0 0 0 2 2
Triploidy triploidy triploidy 3 10 9 3 1 3 10 13
Hyper-triplody Triploidy with tetrasomy X 0 1 1 0 0 0 1 1
Triploidy with tetrasomy 16 0 1 1 0 0 0 1 1
Triploidy with tetrasomy 8 and 14 0 1 0 0 1 0 1 1
Hypo-triplody Triploidy with disomy13 0 2 0 1 1 0 2 2
UPD   UPD 0 2 0 2 0 0 2 2
Mosaicism   Mosaic trisomy 6 1 0 1 0 0 0 1 1
  Trisomy 16 with mosaic trisomy 13 1 0 1 0 0 0 1 1
  Mosaic trisomy 18 1 0 0 1 0 0 1 1
Total abnormal 98 126 149 38 37 18 206 224
  1. A: subgroup A, POC samples of women who experienced more than two previous pregnancies with adverse outcome; B: subgroup B, POC samples of women who experienced one adverse pregnancy history
  2. ART assisted reproductive treatment, NC natural conception, APHx adverse pregnancy history, GW gestational week, CNV copy number variance, UPD uniparental disomy
  3. a two cases were trisomy-16 with CNVs