Reproductive outcomes in couples with sporadic miscarriage after embryonic chromosomal microarray analysis

Figures & data

Table 1. Distribution and frequency of embryonic chromosomal abnormalities detected by chromosomal microarray analysis in SM.

Chromosomal abnormality	SM (n, %)
Single aneuploidy	517 (45.8)
Autosomal trisomy	416 (36.8)
Autosomal monosomy	2 (0.2)
Monosomy X	95 (8.4)
Sex chromosome trisomy	4 (0.4)
Multiple aneuploidy	25 (2.2)
Polyploidy	87 (7.7)
Triploidy	81 (7.2)
Hypotriploidy	2 (0.2)
Hypertriploidy	2 (0.2)
Tetraploidy	2 (0.2)
Partial aneuploidy (large CNV)	35 (3.1)
Terminal deletion/duplication	10 (0.9)
Interstitial deletion/duplication	2 (0.2)
Terminal deletion + terminal duplication (suggestive of unbalanced translocation)	7 (0.6)
Multiple deletions and/or duplications	16 (1.4)
Pathogenic microdeletion/duplication	12 (1.1)
Terminal microdeletion/duplication	5 (0.4)
Interstitial microdeletion/duplication	6 (0.5)
Multiple microdeletions and/or duplications	1 (0.1)
UPD (whole-genome)	4 (0.4)
Total	680 (60.2)

Notes: Data are listed as number (percentage). SM: sporadic miscarriage; CNV: copy number variation; UPD: uniparental disomy.

Table 2. Baseline characteristics of couples with sporadic miscarriage who were pregnant after chromosomal microarray analysis.

Characteristics	Abnormal group (n = 509)				Normal group (n = 338)	p Value
	Aneuploidy (n = 415)	Polyploidy (n = 62)	Partial aneuploidy (n = 21)	Microdeletion/ microduplication (n = 11)
Maternal age (years)	29.0 (21.0–44.0)	29.0 (22.0–40.0)	28.0 (23.0–41.0)	29.0 (22.0–36.0)	29.0 (18.0–44.0)	.017^a
Gestational age (weeks)	10.0 (6.0–17.6)	10.0 (6.0–15.6)	9.3 (6.0–16.5)	10.0 (6.0–14.3)	10.0 (6.0–18.0)	.565^a
Live birth ≥1	27 (6.5)	3 (4.8)	0 (0.0)	0 (0.0)	13 (3.8)	.452^b
Biochemical miscarriage ≥1	13 (3.1)	0 (0.0)	0 (0.0)	1 (9.1)	3 (0.9)	.066^b
Ectopic pregnancy ≥1	3 (0.7)	0 (0.0)	0 (0.0)	0 (0.0)	7 (2.1)	.426^b
Therapeutic abortion ≥1	7 (1.7)	2 (3.2)	0 (0.0)	0 (0.0)	7 (2.1)	.750^b

Notes: Data were present as median (range) or number (percentage). Two-tailed p value < .050 was defined as statistically significant difference.

^ap Value for Kruskal–Wallis test.

^bp Value for Fisher’s exact test.

Figure 1. Flow chart of follow-up after embryonic chromosomal microarray analysis in couples with sporadic miscarriage.

Table 3. Subsequent reproductive outcome after embryonic chromosome analysis in couples with sporadic miscarriage.

Outcome	Abnormal group					Normal group (n = 338)
	Aneuploidy (n = 415)	Polyploidy (n = 62)	Partial aneuploidy (n = 21)	Microdeletion/ microduplication (n = 11)	Total (n = 509)
Live birth	365 (88.0)	59 (95.2)	17 (81.0)	10 (90.9)	451 (88.6)	308 (91.1)
p Value	.161	.296	.133	.980	.240	Reference
OR (95% CI)	0.71 (0.44 to 1.15)	1.92 (0.57 to 6.48)	0.41 (0.13 to 1.31)	0.97 (0.12 to 7.87)	0.76 (0.48 to 1.21)	Reference
Adjusted p value	.315	.248	.119	.997	.415	Reference
Adjusted OR (95% CI)	0.78 (0.48 to 1.27)	2.06 (0.61 to 7.00)	0.40 (0.12 to 1.27)	1.00 (0.12 to 8.17)	0.82 (0.51 to 1.32)	Reference
Spontaneous abortion	38 (9.2)	3 (4.8)	4 (19.0)	0 (0.0)	45 (8.8)	22 (6.5)
p Value	.184	.619	.042	.999	.220	Reference
OR (95% CI)	1.45 (0.84 to 2.50)	0.73 (0.21 to 2.52)	3.38 (1.05 to 10.91)	–	1.39 (0.82 to 2.37)	Reference
Adjusted p Value	.321	.549	.037	.999	.355	Reference
Adjusted OR (95% CI)	1.32 (0.76 to 2.30)	0.68 (0.20 to 2.37)	3.53 (1.08 to 11.54)	–	1.29 (0.75 to 2.20)	Reference
Biochemical miscarriage	11 (2.7)	0 (0.0)	0 (0.0)	0 (0.0)	11 (2.2)	5 (1.5)
p Value	.274	.997	.998	.999	.478	Reference
OR (95% CI)	1.81 (0.62 to 5.27)	–	–	–	1.47 (0.51 to 4.27)	Reference
Adjusted p value	.361	.997	.998	.999	.588	Reference
Adjusted OR (95% CI)	1.65 (0.56 to 4.87)	–	–	–	1.35 (0.46 to 3.95)	Reference
Ectopic pregnancy	1 (0.2)	0 (0.0)	0 (0.0)	1 (9.1)	2 (0.4)	3 (0.9)
p Value	.257	.997	.999	.044	.371	Reference
OR (95% CI)	0.27 (0.03 to 2.61)	–	–	11.17 (1.07 to 116.97)	0.44 (0.07 to 2.65)	Reference
Adjusted p value	.233	.997	.998	.046	.341	Reference
Adjusted OR (95% CI)	0.25 (0.03 to 2.45)	–	–	10.95 (1.04 to 115.18)	0.42 (0.07 to 2.54)	Reference

Notes: Data were present as number (percentage). Two-tailed p value < .050 was defined as statistically significant difference. p Value and OR (95% CI) were calculated by binary logistic regression analysis. Adjusted p value and OR (95% CI) were calculated by binary logistic regression analysis adjusted for maternal age of the index miscarriage. Statistically significant differences were marked in bold.

Table 4. Cumulative reproductive outcomes after embryonic chromosomal analysis in couples with sporadic miscarriage.

Cumulative outcome	Abnormal group					Normal group (n = 338)
	Aneuploidy (n = 415)	Polyploidy (n = 62)	Partial aneuploidy (n = 21)	Microdeletion/ microduplication (n = 11)	Total (n = 509)
Live birth ≥1	389 (93.7)	60 (96.8)	21 (100.0)	11 (100.0)	481 (94.5)	327 (96.7)
p Value	.062	.991	.998	.999	.131	Reference
OR (95% CI)	0.50 (0.25 to 1.03)	1.01 (0.22 to 4.67)	–	–	0.58 (0.28 to 1.18)	Reference
Adjusted p value	.142	.890	.998	.999	.256	Reference
Adjusted OR (95% CI)	0.58 (0.28 to 1.20)	1.11 (0.24 to 5.20)	–	–	0.66 (0.32 to 1.35)	Reference
Spontaneous abortion ≥1	41 (9.9)	3 (4.8)	4 (19.0)	0 (0.0)	48 (9.4)	23 (6.8)
p Value	.134	.566	.050	.999	.179	Reference
OR (95% CI)	1.50 (0.88 to 2.56)	0.70 (0.20 to 2.39)	3.22 (1.00 to 10.37)	–	1.43 (0.85 to 2.39)	Reference
Adjusted p value	.241	.502	.044	.999	.293	Reference
Adjusted OR (95% CI)	1.38 (0.81 to 2.37)	0.65 (0.19 to 2.26)	3.36 (1.03 to 10.92)	–	1.32 (0.79 to 2.23)	Reference
Biochemical miscarriage ≥1	11 (2.7)	0 (0.0)	0 (0.0)	0 (0.0)	11 (2.2)	6 (1.8)
p Value	.424	.997	.998	.999	.695	Reference
OR (95% CI)	1.51 (0.55 to 4.12)	–	–	–	1.22 (0.45 to 3.34)	Reference
Adjusted p value	.528	.997	.998	.999	.815	Reference
Adjusted OR (95% CI)	1.39 (0.50 to 3.84)	–	–	–	1.13 (0.41 to 3.11)	Reference
Ectopic pregnancy ≥1	2 (0.5)	0 (0.0)	0 (0.0)	1 (9.1)	3 (0.6)	3 (0.9)
p Value	.502	.997	.999	.044	.615	Reference
OR (95% CI)	0.54 (0.09 to 3.26)	–	–	11.17 (1.07 to 116.97)	0.66 (0.13 to 3.30)	Reference
Adjusted p value	.475	.997	.998	.046	.589	Reference
Adjusted OR (95% CI)	0.52 (0.08 to 3.17)	–	–	11.01 (1.05 to 115.59)	0.64 (0.13 to 3.23)	Reference

Notes: Data were present as number (percentage). Two-tailed p value < .050 was defined as statistically significant difference. p Value and OR (95% CI) were calculated by binary logistic regression analysis. Adjusted p value and OR (95% CI) were calculated by binary logistic regression analysis adjusted for the maternal age of the index miscarriage. Statistically significant differences were marked in bold.

Figure 2. Embryonic genetic findings and reproductive outcomes in couples with different single aneuploid miscarriage. (a) Distribution of embryonic single aneuploidies in the index miscarriage of the 406 couples with reproductive outcomes. (b) Subsequent reproductive outcome in couples with single aneuploid miscarriage. (c) Cumulative live birth rate in couples with single aneuploid miscarriage.

Data availability statement

The datasets used and/or analysed during the current study are available from the corresponding author on reasonable request.