Application of Chromosomal Microarray Analysis in Genetic Reasons of Miscarriage Tissues

Figures & data

Figure 1 (A) Distribution of normal, diploid aneuploidy, polyploidy, loss of heterozygosity and copy number variants of miscarriage villous genetic results. (B) Distribution of single chromosome aneuploidy among the different human chromosomes.

Table 1 The Results of Mosaic

Type	Sample Count (31)
1 chromosome mosaic	15
T2 mosaic	1
T7 mosaic	1
T10 mosaic	1
T13 mosaic	3
T16 mosaic	5
T19 mosaic	1
T21 mosaic	1
T22 mosaic	2
X mosaic deletion	9
2 chromosomes mosaic	4
3 chromosomes mosaic	3

Table 2 The Results of Polyploidy

Type	Sample Count (69)
Triploid	54 (78.62%)
69, XXX	21
69, XXY	30
Triploid aneuploid	13 (17.39%)
70, XXN+N	11
Triploid & CNV	2
Hypo-triploid	1
Tetraploid	1(arr(93, XXXY+10))

Table 3 The Results of Uniparental Disomy

LOH	Sample Count (15)
arr[GRCh37] 4q32.3q35.2(164,655,641–190,951,996)x2 hmz	1
arr[GRCh37] 8p23.3p21.3(158,048–23,142,068)x2 hmz	2
arr[GRCh37] 10p15.3p11.1(135,330–38,645,824)x2hmz	2
arr[GRCh37] 10q11.21q26.3(42,490,962–135,426,384) x2 hmz	1
arr[GRCh37] 11q11q25(54,827,208–134,464,532)x2 hmz	1
arr[GRCh] 16p13.3p12.3(94,807–20,006,178)x2hmz	1
arr[GRCh37] 22q11.22q13.33(20,278,528–51,157,531)x2 hmz	3
arr(1–22,X)x2 hmz	3
arr(1–22,X)x2 hmz mos pat	1

Table 4 The Frequency of Abnormality Types in Maternal Age Groups

Age Group	≥35	<35	P
abnormality	146 (73.06%)	402 (60.00%)	***<0.000
aneuploidy	107 (52.33%)	234 (34.68%)	****<0.000
Polyploidy	12 (6.22%)	46 (6.45%)	0.332

Notes: ***P<0.001, ****P<0.0001.

Figure 2 (A) IHC and H&E stained results illustrated molar mole of the villous (B) STR results showed it was paternal molar mole (C) CMA results showed it was whole genome mosaic uniparental disomy. (D) and (E) showed here that this villous was chimera, its CMA results was arr(X)×1~2,(Y)×0~1,(3)×2~3,(1,2,4–22)×2 chi. STR results revealed that this sample was heterologous chimera from parental and maternal origin. (F and G) showed here that this villous was T19 mosaic.

Data Sharing Statement

All data generated during and analyzed during the current study are available upon request by contact the corresponding author.